commit 326b99d43fdc9b210d2f5df79018ef03614ea684 Author: davidlagorce Date: Tue Dec 9 16:49:50 2025 +0100 DECEMBER 2025 diff --git a/Rare diseases and classifications/Classifications of rare diseases/en_product3_156.xml b/Rare diseases and classifications/Classifications of rare diseases/en_product3_156.xml index 35c69cc..bd3228f 100755 --- a/Rare diseases and classifications/Classifications of rare diseases/en_product3_156.xml +++ b/Rare diseases and classifications/Classifications of rare diseases/en_product3_156.xml @@ -1,226242 +1,227454 @@ - - - - - Creative Commons Attribution 4.0 International - CC-BY-4.0 - https://creativecommons.org/licenses/by/4.0/legalcode - - - - - 158293 - Orphanet classification of rare genetic diseases - - - - 98053 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98053 - Rare genetic disease - - Category - - - - - - 536391 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=536391 - RASopathy - - Category - - - - - - 634511 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=634511 - Mosaic Legius syndrome - - Disease - - - - - - - - 98733 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98733 - Noonan syndrome and Noonan-related syndrome - - Category - - - - - - 648 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=648 - Noonan syndrome - - Malformation syndrome - - - - - - - - 3071 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3071 - Costello syndrome - - Malformation syndrome - - - - - - - - 500 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500 - Noonan syndrome with multiple lentigines - - Malformation syndrome - - - - - - - - 1340 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1340 - Cardiofaciocutaneous syndrome - - Malformation syndrome - - - - - - - - 2701 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2701 - Noonan syndrome-like disorder with loose anagen hair - - Malformation syndrome - - - - - - - - 363972 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363972 - Noonan syndrome-like disorder with juvenile myelomonocytic leukemia - - Malformation syndrome - - - - - - - - 638 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=638 - Neurofibromatosis-Noonan syndrome - - Malformation syndrome - - - - - - - - - - 137605 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137605 - Legius syndrome - - Malformation syndrome - - - - - - - - 137667 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137667 - Capillary malformation-arteriovenous malformation - - Clinical group - - - - - - 693907 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=693907 - RASA1-related capillary malformation-arteriovenous malformation - - Malformation syndrome - - - - - - - - 693912 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=693912 - EPHB4-related capillary malformation-arteriovenous malformation - - Malformation syndrome - - - - - - - - - - 636 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=636 - Neurofibromatosis type 1 - - Disease - - - - - - 97685 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97685 - 17q11 microdeletion syndrome - - Clinical subtype - - - - - - - - 363700 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363700 - Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion - - Etiological subtype - - - - - - - - - - - - 447874 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447874 - Biological anomaly without phenotypic characterization - - Category - - - - - - 168612 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168612 - Congenital deficiency in alpha-fetoprotein - - Biological anomaly - - - - - - - - 168615 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168615 - Hereditary persistence of alpha-fetoprotein - - Biological anomaly - - - - - - - - 254704 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254704 - Genetic hyperferritinemia without iron overload - - Biological anomaly - - - - - - - - 1035 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1035 - Beta-mercaptolactate cysteine disulfiduria - - Biological anomaly - - - - - - - - 1361 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1361 - Carnosinase deficiency - - Biological anomaly - - - - - - - - - - 641343 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=641343 - Imprinting disorders - - Clinical group - - - - - - 72 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=72 - Angelman syndrome - - Malformation syndrome - - - - - - 98794 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98794 - Angelman syndrome due to maternal 15q11q13 deletion - - Etiological subtype - - - - - - - - 98795 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98795 - Angelman syndrome due to paternal uniparental disomy of chromosome 15 - - Etiological subtype - - - - - - - - 411511 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411511 - Angelman syndrome due to a point mutation - - Etiological subtype - - - - - - - - 411515 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411515 - Angelman syndrome due to imprinting defect in 15q11-q13 - - Etiological subtype - - - - - - - - - - 739 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=739 - Prader-Willi syndrome - - Disease - - - - - - 98754 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98754 - Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 - - Etiological subtype - - - - - - - - 98793 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98793 - Prader-Willi syndrome due to paternal 15q11q13 deletion - - Etiological subtype - - - - - - 177901 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=177901 - Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 - - Etiological subtype - - - - - - - - 177904 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=177904 - Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 - - Etiological subtype - - - - - - - - - - 177907 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=177907 - Prader-Willi syndrome due to translocation - - Etiological subtype - - - - - - - - 177910 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=177910 - Prader-Willi syndrome due to imprinting mutation - - Etiological subtype - - - - - - - - - - 398069 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398069 - Schaaf-Yang syndrome - - Disease - - - - - - - - 813 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=813 - Silver-Russell syndrome - - Disease - - - - - - 96182 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96182 - Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 - - Etiological subtype - - - - - - - - 231137 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231137 - Silver-Russell syndrome due to 7p11.2p13 microduplication - - Etiological subtype - - - - - - - - 231140 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231140 - Silver-Russell syndrome due to an imprinting defect of 11p15 - - Etiological subtype - - - - - - - - 231144 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231144 - Silver-Russell syndrome due to 11p15 microduplication - - Etiological subtype - - - - - - - - 231147 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231147 - Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 - - Etiological subtype - - - - - - - - 397590 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397590 - Silver-Russell syndrome due to a point mutation - - Etiological subtype - - - - - - - - - - 116 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=116 - Beckwith-Wiedemann syndrome - - Malformation syndrome - - - - - - 96076 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96076 - Beckwith-Wiedemann syndrome due to 11p15 microduplication - - Etiological subtype - - - - - - - - 96193 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96193 - Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11 - - Etiological subtype - - - - - - - - 231117 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231117 - Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 - - Etiological subtype - - - - - - - - 231120 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231120 - Beckwith-Wiedemann syndrome due to CDKN1C mutation - - Etiological subtype - - - - - - - - 231127 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231127 - Beckwith-Wiedemann syndrome due to 11p15 microdeletion - - Etiological subtype - - - - - - - - 231130 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231130 - Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion - - Etiological subtype - - - - - - - - 238613 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238613 - Beckwith-Wiedemann syndrome due to NSD1 mutation - - Etiological subtype - - - - - - - - - - 99886 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99886 - Transient neonatal diabetes mellitus - - Disease - - - - - - - - 254516 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254516 - Temple syndrome - - Malformation syndrome - - - - - - 96184 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96184 - Temple syndrome due to maternal uniparental disomy of chromosome 14 - - Etiological subtype - - - - - - - - 254525 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254525 - Temple syndrome due to paternal 14q32.2 microdeletion - - Etiological subtype - - - - - - - - 254531 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254531 - Temple syndrome due to paternal 14q32.2 hypomethylation - - Etiological subtype - - - - - - - - - - 254519 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254519 - Kagami-Ogata syndrome - - Malformation syndrome - - - - - - 96334 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96334 - Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 - - Etiological subtype - - - - - - - - 254528 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254528 - Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion - - Etiological subtype - - - - - - - - 254534 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254534 - Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation - - Etiological subtype - - - - - - - - - - 79443 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79443 - Pseudohypoparathyroidism type 1A - - Disease - - - - - - - - 79444 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79444 - Pseudohypoparathyroidism type 1C - - Disease - - - - - - - - 79445 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79445 - Pseudopseudohypoparathyroidism - - Disease - - - - - - - - 94089 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94089 - Pseudohypoparathyroidism type 1B - - Disease - - - - - - - - - - 68335 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=68335 - Rare chromosomal anomaly - - Category - - - - - - 1052 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1052 - Mosaic variegated aneuploidy syndrome - - Malformation syndrome - - - - - - - - 96321 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96321 - Polyploidy syndrome - - Category - - - - - - 3305 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3305 - Tetraploidy syndrome - - Malformation syndrome - - - - - - - - 3376 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3376 - Triploidy syndrome - - Malformation syndrome - - - - - - - - - - 98127 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98127 - Autosomal anomaly syndrome - - Category - - - - - - 363203 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363203 - Ring chromosome syndrome - - Category - - - - - - 96172 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96172 - Ring chromosome 3 syndrome - - Malformation syndrome - - - - - - - - 96173 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96173 - Ring chromosome 9 syndrome - - Malformation syndrome - - - - - - - - 96175 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96175 - Ring chromosome 11 syndrome - - Malformation syndrome - - - - - - - - 96176 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96176 - Ring chromosome 13 syndrome - - Malformation syndrome - - - - - - - - 96177 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96177 - Ring chromosome 15 syndrome - - Malformation syndrome - - - - - - - - 96178 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96178 - Ring chromosome 16 syndrome - - Malformation syndrome - - - - - - - - 251043 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251043 - Ring chromosome 5 syndrome - - Malformation syndrome - - - - - - - - 1442 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1442 - Ring chromosome 18 syndrome - - Malformation syndrome - - - - - - - - 1446 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1446 - Ring chromosome 22 syndrome - - Malformation syndrome - - - - - - - - 1437 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1437 - Ring chromosome 1 syndrome - - Malformation syndrome - - - - - - - - 1438 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1438 - Ring chromosome 10 syndrome - - Malformation syndrome - - - - - - - - 1439 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1439 - Ring chromosome 12 syndrome - - Malformation syndrome - - - - - - - - 1444 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1444 - Ring chromosome 20 syndrome - - Malformation syndrome - - - - - - - - 1447 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1447 - Ring chromosome 4 syndrome - - Malformation syndrome - - - - - - - - 1448 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1448 - Ring chromosome 6 syndrome - - Malformation syndrome - - - - - - - - 1450 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1450 - Ring chromosome 8 syndrome - - Malformation syndrome - - - - - - - - 1445 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1445 - Ring chromosome 21 syndrome - - Malformation syndrome - - - - - - - - 1440 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1440 - Ring chromosome 14 syndrome - - Malformation syndrome - - - - - - - - 1443 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1443 - Ring chromosome 19 syndrome - - Malformation syndrome - - - - - - - - 1449 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1449 - Ring chromosome 7 syndrome - - Malformation syndrome - - - - - - - - 1441 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1441 - Ring chromosome 17 syndrome - - Malformation syndrome - - - - - - - - 96171 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96171 - Ring chromosome 2 syndrome - - Malformation syndrome - - - - - - - - - - 98130 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98130 - Autosomal trisomy syndrome - - Category - - - - - - 98131 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98131 - Total autosomal trisomy syndrome - - Category - - - - - - 3378 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3378 - Trisomy 13 syndrome - - Malformation syndrome - - - - - - - - 3380 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3380 - Trisomy 18 syndrome - - Malformation syndrome - - - - - - - - 1703 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1703 - Mosaic trisomy 14 syndrome - - Malformation syndrome - - - - - - - - 1692 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1692 - Mosaic trisomy 1 syndrome - - Malformation syndrome - - - - - - - - 1698 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1698 - Mosaic trisomy 12 syndrome - - Malformation syndrome - - - - - - - - 1706 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1706 - Mosaic trisomy 15 syndrome - - Malformation syndrome - - - - - - - - 1708 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1708 - Mosaic trisomy 16 syndrome - - Malformation syndrome - - - - - - - - 1711 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1711 - Mosaic trisomy 17 syndrome - - Malformation syndrome - - - - - - - - 1723 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1723 - Mosaic trisomy 2 syndrome - - Malformation syndrome - - - - - - - - 1724 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1724 - Mosaic trisomy 20 syndrome - - Malformation syndrome - - - - - - - - 1747 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1747 - Mosaic trisomy 7 syndrome - - Malformation syndrome - - - - - - - - 96059 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96059 - Mosaic trisomy 4 syndrome - - Malformation syndrome - - - - - - - - 96060 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96060 - Mosaic trisomy 5 syndrome - - Malformation syndrome - - - - - - - - 96061 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96061 - Mosaic trisomy 8 syndrome - - Malformation syndrome - - - - - - - - 96063 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96063 - Mosaic trisomy 10 syndrome - - Malformation syndrome - - - - - - - - 96068 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96068 - Mosaic trisomy 22 syndrome - - Malformation syndrome - - - - - - - - 99776 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99776 - Mosaic trisomy 9 syndrome - - Malformation syndrome - - - - - - - - 100071 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100071 - Mosaic trisomy 3 syndrome - - Malformation syndrome - - - - - - - - 870 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=870 - Down syndrome - - Malformation syndrome - - - - - - - - - - 98132 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98132 - Partial autosomal duplication/triplication syndrome - - Category - - - - - - 96055 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96055 - Tetrasomy 21 syndrome - - Malformation syndrome - - - - - - - - 262191 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262191 - Partial duplication of chromosome 1 syndrome - - Category - - - - - - 262833 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262833 - Partial duplication of the long arm of chromosome 1 syndrome - - Category - - - - - - 250994 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=250994 - 1q21.1 microduplication syndrome - - Malformation syndrome - - - - - - - - 261344 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261344 - Trisomy 1q syndrome - - Malformation syndrome - - - - - - - - - - 264431 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=264431 - Partial duplication of the short arm of chromosome 1 syndrome - - Category - - - - - - 656279 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=656279 - 1p36.33 duplication syndrome - - Disease - - - - - - - - 96069 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96069 - Distal duplication 1p36 syndrome - - Malformation syndrome - - - - - - - - - - - - 262196 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262196 - Partial duplication of chromosome 2 syndrome - - Category - - - - - - 262698 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262698 - Partial duplication of the short arm of chromosome 2 syndrome - - Category - - - - - - 699850 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699850 - 2p25.3 microduplication syndrome - - Malformation syndrome - - - - - - - - 96070 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96070 - Distal duplication 2p syndrome - - Malformation syndrome - - - - - - - - - - 262842 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262842 - Partial duplication of the long arm of chromosome 2 syndrome - - Category - - - - - - 96094 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96094 - Distal duplication 2q syndrome - - Malformation syndrome - - - - - - - - 294026 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294026 - Syndactyly-nystagmus syndrome due to 2q31.1 microduplication - - Malformation syndrome - - - - - - - - 313947 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313947 - 2q23.1 microduplication syndrome - - Malformation syndrome - - - - - - - - - - - - 262201 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262201 - Partial duplication of chromosome 3 syndrome - - Category - - - - - - 262707 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262707 - Partial duplication of the short arm of chromosome 3 syndrome - - Category - - - - - - 96071 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96071 - Distal duplication 3p syndrome - - Malformation syndrome - - - - - - - - - - 262851 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262851 - Partial duplication of the long arm of chromosome 3 syndrome - - Category - - - - - - 96095 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96095 - 3q26 microduplication syndrome - - Malformation syndrome - - - - - - - - 251038 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251038 - 3q29 microduplication syndrome - - Malformation syndrome - - - - - - - - - - - - 262206 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262206 - Partial duplication of chromosome 4 syndrome - - Category - - - - - - 262716 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262716 - Partial duplication of the short arm of chromosome 4 syndrome - - Category - - - - - - 1738 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1738 - Trisomy 4p syndrome - - Malformation syndrome - - - - - - - - 96072 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96072 - 4p16.3 microduplication syndrome - - Malformation syndrome - - - - - - - - - - 262860 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262860 - Partial duplication of the long arm of chromosome 4 syndrome - - Category - - - - - - 96096 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96096 - Distal duplication 4q syndrome - - Malformation syndrome - - - - - - - - - - - - 262211 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262211 - Partial duplication/triplication of chromosome 5 syndrome - - Category - - - - - - 262725 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262725 - Partial duplication/triplication of the short arm of chromosome 5 syndrome - - Category - - - - - - 1742 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1742 - Trisomy 5p syndrome - - Malformation syndrome - - - - - - - - 3309 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3309 - Tetrasomy 5p syndrome - - Malformation syndrome - - - - - - - - 329802 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329802 - 5p13 microduplication syndrome - - Malformation syndrome - - - - - - - - - - 262869 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262869 - Partial duplication of the long arm of chromosome 5 syndrome - - Category - - - - - - 96097 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96097 - Distal duplication 5q syndrome - - Malformation syndrome - - - - - - - - 99027 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99027 - Adult-onset autosomal dominant leukodystrophy - - Disease - - - - - - - - 228415 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228415 - 5q35 microduplication syndrome - - Malformation syndrome - - - - - - - - - - - - 262628 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262628 - Partial duplication of chromosome 6 syndrome - - Category - - - - - - 262740 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262740 - Partial duplication of the short arm of chromosome 6 syndrome - - Category - - - - - - 1745 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1745 - Distal duplication 6p syndrome - - Malformation syndrome - - - - - - - - - - 262878 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262878 - Partial duplication of the long arm of chromosome 6 syndrome - - Category - - - - - - 96098 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96098 - Distal duplication 6q syndrome - - Malformation syndrome - - - - - - - - - - - - 262633 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262633 - Partial duplication of chromosome 7 syndrome - - Category - - - - - - 262749 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262749 - Partial duplication of the short arm of chromosome 7 syndrome - - Category - - - - - - 96074 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96074 - Distal duplication 7p syndrome - - Malformation syndrome - - - - - - - - 231137 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231137 - Silver-Russell syndrome due to 7p11.2p13 microduplication - - Etiological subtype - - - - - - - - 314034 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314034 - 7p22.1 microduplication syndrome - - Malformation syndrome - - - - - - - - - - 262887 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262887 - Partial duplication of the long arm of chromosome 7 syndrome - - Category - - - - - - 96121 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96121 - 7q11.23 microduplication syndrome - - Malformation syndrome - - - - - - - - 261102 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261102 - Distal 7q11.23 microduplication syndrome - - Malformation syndrome - - - - - - - - - - - - 262638 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262638 - Partial duplication of chromosome 8 syndrome - - Category - - - - - - 262758 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262758 - Partial duplication of the short arm of chromosome 8 syndrome - - Category - - - - - - 251076 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251076 - 8p23.1 duplication syndrome - - Malformation syndrome - - - - - - - - 264450 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=264450 - Trisomy 8p syndrome - - Malformation syndrome - - - - - - - - - - 262896 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262896 - Partial duplication of the long arm of chromosome 8 syndrome - - Category - - - - - - 1752 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1752 - Trisomy 8q syndrome - - Malformation syndrome - - - - - - - - 96100 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96100 - Distal duplication 8q syndrome - - Malformation syndrome - - - - - - - - 228399 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228399 - 8q12 microduplication syndrome - - Malformation syndrome - - - - - - - - - - - - 262643 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262643 - Partial duplication/triplication of chromosome 9 syndrome - - Category - - - - - - 262767 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262767 - Partial duplication/triplication of the short arm of chromosome 9 syndrome - - Category - - - - - - 236 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=236 - Trisomy 9p syndrome - - Malformation syndrome - - - - - - - - 3310 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3310 - Tetrasomy 9p syndrome - - Malformation syndrome - - - - - - - - - - 262905 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262905 - Partial duplication of the long arm of chromosome 9 syndrome - - Category - - - - - - 96101 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96101 - Distal duplication 9q syndrome - - Malformation syndrome - - - - - - - - 96112 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96112 - Non-distal duplication 9q syndrome - - Malformation syndrome - - - - - - - - - - - - 262648 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262648 - Partial duplication of chromosome 10 syndrome - - Category - - - - - - 262776 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262776 - Partial duplication of the short arm of chromosome 10 syndrome - - Category - - - - - - 171929 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171929 - Trisomy 10p syndrome - - Malformation syndrome - - - - - - - - - - 262914 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262914 - Partial duplication of the long arm of chromosome 10 syndrome - - Category - - - - - - 1695 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1695 - Non-distal duplication 10q syndrome - - Malformation syndrome - - - - - - - - 1307 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1307 - Distal limb deficiencies-micrognathia syndrome - - Malformation syndrome - - - - - - - - 96102 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96102 - Distal duplication 10q syndrome - - Malformation syndrome - - - - - - - - 276422 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276422 - 10q22.3q23.3 microduplication syndrome - - Malformation syndrome - - - - - - - - - - - - 262653 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262653 - Partial duplication of chromosome 11 syndrome - - Category - - - - - - 262785 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262785 - Partial duplication of the short arm of chromosome 11 syndrome - - Category - - - - - - 96076 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96076 - Beckwith-Wiedemann syndrome due to 11p15 microduplication - - Etiological subtype - - - - - - - - 231144 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231144 - Silver-Russell syndrome due to 11p15 microduplication - - Etiological subtype - - - - - - - - 300305 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300305 - 11p15.4 microduplication syndrome - - Malformation syndrome - - - - - - - - - - 262923 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262923 - Partial duplication of the long arm of chromosome 11 syndrome - - Category - - - - - - 96103 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96103 - Distal duplication 11q syndrome - - Malformation syndrome - - - - - - - - 289522 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289522 - Microtriplication 11q24.1 syndrome - - Malformation syndrome - - - - - - - - - - - - 262658 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262658 - Partial duplication/triplication of the short arm of chromosome 12 syndrome - - Category - - - - - - 884 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=884 - Pallister-Killian syndrome - - Malformation syndrome - - - - - - - - 1699 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1699 - Trisomy 12p syndrome - - Malformation syndrome - - - - - - - - - - 262672 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262672 - Partial duplication of chromosome 16 syndrome - - Category - - - - - - 262794 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262794 - Partial duplication of the short arm of chromosome 16 syndrome - - Category - - - - - - 96078 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96078 - 16p13.3 microduplication syndrome - - Malformation syndrome - - - - - - - - 261204 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261204 - 16p11.2p12.2 microduplication syndrome - - Malformation syndrome - - - - - - - - 261243 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261243 - 16p13.11 microduplication syndrome - - Malformation syndrome - - - - - - - - 370079 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370079 - Proximal 16p11.2 microduplication syndrome - - Malformation syndrome - - - - - - - - 485405 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=485405 - 16p12.1p12.3 triplication syndrome - - Malformation syndrome - - - - - - - - - - 262959 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262959 - Partial duplication of the long arm of chromosome 16 syndrome - - Category - - - - - - 96106 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96106 - Distal duplication 16q syndrome - - Malformation syndrome - - - - - - - - - - - - 262677 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262677 - Partial duplication of chromosome 17 syndrome - - Category - - - - - - 262803 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262803 - Partial duplication of the short arm of chromosome 17 syndrome - - Category - - - - - - 1713 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1713 - 17p11.2 microduplication syndrome - - Malformation syndrome - - - - - - - - 101081 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101081 - Charcot-Marie-Tooth disease type 1A - - Disease - - - - - - - - 217385 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217385 - 17p13.3 microduplication syndrome - - Malformation syndrome - - - - - - - - 261290 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261290 - Trisomy 17p syndrome - - Malformation syndrome - - - - - - - - - - 262968 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262968 - Partial duplication of the long arm of chromosome 17 syndrome - - Category - - - - - - 3379 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3379 - Distal duplication 17q syndrome - - Malformation syndrome - - - - - - - - 139474 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139474 - 17q11.2 microduplication syndrome - - Malformation syndrome - - - - - - - - 217340 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217340 - 17q21.31 microduplication syndrome - - Malformation syndrome - - - - - - - - 238578 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238578 - Familial clubfoot due to 17q23.1q23.2 microduplication - - Etiological subtype - - - - - - - - 261272 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261272 - 17q12 microduplication syndrome - - Malformation syndrome - - - - - - - - 477817 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477817 - PMP22-RAI1 contiguous gene duplication syndrome - - Malformation syndrome - - - - - - - - - - - - 262682 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262682 - Partial duplication/triplication of chromosome 18 syndrome - - Category - - - - - - 262812 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262812 - Partial duplication/triplication of the short arm of chromosome 18 syndrome - - Category - - - - - - 1715 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1715 - Trisomy 18p syndrome - - Malformation syndrome - - - - - - - - 3307 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3307 - Tetrasomy 18p syndrome - - Malformation syndrome - - - - - - - - - - 262977 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262977 - Partial duplication of the long arm of chromosome 18 syndrome - - Category - - - - - - 1716 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1716 - Distal duplication 18q syndrome - - Malformation syndrome - - - - - - - - - - - - 262687 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262687 - Partial duplication of chromosome 19 syndrome - - Category - - - - - - 262986 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262986 - Partial duplication of the long arm of chromosome 19 syndrome - - Category - - - - - - 1717 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1717 - Distal duplication 19q syndrome - - Malformation syndrome - - - - - - - - - - 447985 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447985 - Partial duplication of the short arm of chromosome 19 syndrome - - Category - - - - - - 447980 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447980 - 19p13.3 microduplication syndrome - - Malformation syndrome - - - - - - - - - - - - 262692 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262692 - Partial duplication of chromosome 20 syndrome - - Category - - - - - - 261318 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261318 - Trisomy 20p syndrome - - Malformation syndrome - - - - - - - - 262995 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262995 - Partial duplication of the long arm of chromosome 20 syndrome - - Category - - - - - - 96107 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96107 - Distal duplication 20q syndrome - - Malformation syndrome - - - - - - - - 363659 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363659 - 20q11.2 microduplication syndrome - - Malformation syndrome - - - - - - - - - - - - 262932 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262932 - Partial duplication of the long arm of chromosome 13 syndrome - - Category - - - - - - 1702 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1702 - Non-distal duplication 13q syndrome - - Malformation syndrome - - - - - - - - 96105 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96105 - Distal duplication 13q syndrome - - Malformation syndrome - - - - - - - - - - 262941 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262941 - Partial duplication of the long arm of chromosome 14 syndrome - - Category - - - - - - 1705 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1705 - Distal duplication 14q syndrome - - Malformation syndrome - - - - - - - - 261229 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261229 - 14q11.2 microduplication syndrome - - Malformation syndrome - - - - - - - - 488280 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488280 - 14q32 duplication syndrome - - Disease - - - - - - - - - - 262950 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262950 - Partial duplication of the long arm of chromosome 15 syndrome - - Category - - - - - - 238446 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238446 - 15q11q13 microduplication syndrome - - Malformation syndrome - - - - - - - - 314585 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314585 - 15q overgrowth syndrome - - Malformation syndrome - - - - - - 1707 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1707 - Distal duplication 15q syndrome - - Etiological subtype - - - - - - - - 314588 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314588 - Distal triplication 15q syndrome - - Etiological subtype - - - - - - - - - - - - 263004 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263004 - Partial duplication of the long arm of chromosome 22 syndrome - - Category - - - - - - 1727 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1727 - 22q11.2 duplication syndrome - - Malformation syndrome - - - - - - - - 96109 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96109 - Distal duplication 22q syndrome - - Malformation syndrome - - - - - - - - 261337 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261337 - Distal 22q11.2 microduplication syndrome - - Malformation syndrome - - - - - - - - - - - - - - 98152 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98152 - Autosomal uniparental disomy syndrome - - Category - - - - - - 98153 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98153 - Maternal uniparental disomy syndrome - - Category - - - - - - 96179 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96179 - Maternal uniparental disomy of chromosome 2 syndrome - - Malformation syndrome - - - - - - - - 96180 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96180 - Maternal uniparental disomy of chromosome 4 syndrome - - Malformation syndrome - - - - - - - - 96181 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96181 - Maternal uniparental disomy of chromosome 6 syndrome - - Malformation syndrome - - - - - - - - 96182 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96182 - Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 - - Etiological subtype - - - - - - - - 96183 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96183 - Maternal uniparental disomy of chromosome 9 syndrome - - Malformation syndrome - - - - - - - - 96184 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96184 - Temple syndrome due to maternal uniparental disomy of chromosome 14 - - Etiological subtype - - - - - - - - 96185 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96185 - Maternal uniparental disomy of chromosome 16 syndrome - - Malformation syndrome - - - - - - - - 96186 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96186 - Maternal uniparental disomy of chromosome 20 syndrome - - Malformation syndrome - - - - - - - - 96187 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96187 - Maternal uniparental disomy of chromosome 21 syndrome - - Malformation syndrome - - - - - - - - 96188 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96188 - Maternal uniparental disomy of chromosome 22 syndrome - - Malformation syndrome - - - - - - - - 97678 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97678 - Maternal uniparental disomy of chromosome 13 syndrome - - Malformation syndrome - - - - - - - - 98754 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98754 - Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 - - Etiological subtype - - - - - - - - 231147 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231147 - Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 - - Etiological subtype - - - - - - - - 251009 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251009 - Maternal uniparental disomy of chromosome 1 syndrome - - Malformation syndrome - - - - - - - - - - 98154 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98154 - Paternal uniparental disomy syndrome - - Category - - - - - - 96190 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96190 - Paternal uniparental disomy of chromosome 5 syndrome - - Malformation syndrome - - - - - - - - 96191 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96191 - Paternal uniparental disomy of chromosome 6 syndrome - - Malformation syndrome - - - - - - - - 96192 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96192 - Paternal uniparental disomy of chromosome 7 syndrome - - Malformation syndrome - - - - - - - - 96193 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96193 - Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11 - - Etiological subtype - - - - - - - - 96194 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96194 - Paternal uniparental disomy of chromosome 20 syndrome - - Malformation syndrome - - - - - - - - 96195 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96195 - Paternal uniparental disomy of chromosome 21 syndrome - - Malformation syndrome - - - - - - - - 96334 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96334 - Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 - - Etiological subtype - - - - - - - - 98795 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98795 - Angelman syndrome due to paternal uniparental disomy of chromosome 15 - - Etiological subtype - - - - - - - - 99324 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99324 - Paternal uniparental disomy of chromosome 13 syndrome - - Malformation syndrome - - - - - - - - 251004 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251004 - Paternal uniparental disomy of chromosome 1 syndrome - - Malformation syndrome - - - - - - - - - - 329813 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329813 - Mosaic genome-wide paternal uniparental disomy syndrome - - Malformation syndrome - - - - - - - - - - 102020 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=102020 - Autosomal monosomy syndrome - - Category - - - - - - 98141 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98141 - Total autosomal monosomy syndrome - - Category - - - - - - 96123 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96123 - Monosomy 22 syndrome - - Malformation syndrome - - - - - - - - - - 98142 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98142 - Partial autosomal deletion syndrome - - Category - - - - - - 261766 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261766 - Partial deletion of chromosome 1 syndrome - - Category - - - - - - 261857 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261857 - Partial deletion of the short arm of chromosome 1 syndrome - - Category - - - - - - 1606 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1606 - 1p36 deletion syndrome - - Malformation syndrome - - - - - - - - 293948 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293948 - 1p21.3 microdeletion syndrome - - Malformation syndrome - - - - - - - - 401986 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401986 - 1p31p32 microdeletion syndrome - - Malformation syndrome - - - - - - - - 615986 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=615986 - Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to biallelic deletions in the ATAD3 gene cluster - - Etiological subtype - - - - - - - - 456298 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=456298 - 1p35.2 microdeletion syndrome - - Malformation syndrome - - - - - - - - - - 262001 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262001 - Partial deletion of the long arm of chromosome 1 syndrome - - Category - - - - - - 36367 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36367 - Distal deletion 1q syndrome - - Malformation syndrome - - - - - - - - 238769 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238769 - 1q44 microdeletion syndrome - - Malformation syndrome - - - - - - - - 250989 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=250989 - 1q21.1 microdeletion syndrome - - Malformation syndrome - - - - - - - - 250999 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=250999 - 1q41q42 microdeletion syndrome - - Malformation syndrome - - - - - - - - - - - - 261771 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261771 - Partial deletion of chromosome 2 syndrome - - Category - - - - - - 261866 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261866 - Partial deletion of the short arm of chromosome 2 syndrome - - Category - - - - - - 261349 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261349 - 2p15p16.1 microdeletion syndrome - - Malformation syndrome - - - - - - - - 363680 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363680 - 2p13.2 microdeletion syndrome - - Malformation syndrome - - - - - - - - 369886 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369886 - Homozygous 2p21 microdeletion syndrome - - Clinical group - - - - - - 238517 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238517 - Hypotonia-cystinuria type 1 syndrome - - Clinical group - - - - - - 163690 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163690 - Hypotonia-cystinuria syndrome - - Disease - - - - - - - - 163693 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163693 - 2p21 microdeletion syndrome - - Disease - - - - - - - - 238523 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238523 - Atypical hypotonia-cystinuria syndrome - - Disease - - - - - - - - - - 369881 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369881 - 2p21 microdeletion syndrome without cystinuria - - Malformation syndrome - - - - - - - - - - - - 262010 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262010 - Partial deletion of the long arm of chromosome 2 syndrome - - Category - - - - - - 1001 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1001 - 2q37 microdeletion syndrome - - Malformation syndrome - - - - - - - - 1617 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1617 - Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to 2q24 microdeletion - - Etiological subtype - - - - - - - - 228402 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228402 - 2q23.1 microdeletion syndrome - - Malformation syndrome - - - - - - - - 251014 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251014 - 2q31.1 microdeletion syndrome - - Malformation syndrome - - - - - - - - 251019 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251019 - 2q32q33 deletion syndrome - - Malformation syndrome - - - - - - - - 251028 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251028 - SATB2-associated syndrome due to a chromosomal rearrangement - - Etiological subtype - - - - - - - - 261537 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261537 - Mowat-Wilson syndrome due to monosomy 2q22 - - Etiological subtype - - - - - - - - 684742 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=684742 - 2q13 microdeletion syndrome - - Malformation syndrome - - - - - - - - - - - - 261776 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261776 - Partial deletion of chromosome 3 syndrome - - Category - - - - - - 261875 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261875 - Partial deletion of the short arm of chromosome 3 syndrome - - Category - - - - - - 1620 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1620 - Distal deletion 3p syndrome - - Malformation syndrome - - - - - - - - 435638 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435638 - 3p25.3 microdeletion syndrome - - Malformation syndrome - - - - - - - - - - 262019 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262019 - Partial deletion of the long arm of chromosome 3 syndrome - - Category - - - - - - 1621 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1621 - 3q13 microdeletion syndrome - - Malformation syndrome - - - - - - - - 572333 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572333 - Blepharophimosis-ptosis-epicanthus inversus syndrome plus - - Malformation syndrome - - - - - - - - 65286 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65286 - 3q29 microdeletion syndrome - - Malformation syndrome - - - - - - - - 695611 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=695611 - 3q26q28 deletion syndrome - - Malformation syndrome - - - - - - - - - - - - 261781 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261781 - Partial deletion of chromosome 4 syndrome - - Category - - - - - - 261884 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261884 - Partial deletion of the short arm of chromosome 4 syndrome - - Category - - - - - - 280 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280 - Wolf-Hirschhorn syndrome - - Malformation syndrome - - - - - - - - - - 262029 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262029 - Partial deletion of the long arm of chromosome 4 syndrome - - Category - - - - - - 96145 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96145 - Distal deletion 4q syndrome - - Malformation syndrome - - - - - - - - 238750 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238750 - 4q21 microdeletion syndrome - - Malformation syndrome - - - - - - - - 502437 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=502437 - 4q25 proximal deletion syndrome - - Malformation syndrome - - - - - - - - - - - - 261786 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261786 - Partial deletion of chromosome 5 syndrome - - Category - - - - - - 261893 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261893 - Partial deletion of the short arm of chromosome 5 syndrome - - Category - - - - - - 281 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=281 - Monosomy 5p syndrome - - Malformation syndrome - - - - - - - - - - 262038 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262038 - Partial deletion of the long arm of chromosome 5 syndrome - - Category - - - - - - 821 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=821 - Sotos syndrome - - Disease - - - - - - - - 1627 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1627 - Deletion 5q35 syndrome - - Malformation syndrome - - - - - - - - 228384 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228384 - 5q14.3 microdeletion syndrome - - Etiological subtype - - - - - - - - 261584 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261584 - 5q22 microdeletion syndrome - - Disease - - - - - - - - 314655 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314655 - Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion - - Etiological subtype - - - - - - - - 436003 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436003 - Contractures-developmental delay-Pierre Robin syndrome - - Malformation syndrome - - - - - - - - - - - - 261791 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261791 - Partial deletion of chromosome 6 syndrome - - Category - - - - - - 261902 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261902 - Partial deletion of the short arm of chromosome 6 syndrome - - Category - - - - - - 96125 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96125 - Distal deletion 6p syndrome - - Malformation syndrome - - - - - - - - 251046 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251046 - 6p22 microdeletion syndrome - - Malformation syndrome - - - - - - - - - - 262047 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262047 - Partial deletion of the long arm of chromosome 6 syndrome - - Category - - - - - - 664404 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=664404 - 6q25.1 microdeletion syndrome - - Etiological subtype - - - - - - - - 75857 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75857 - 6q terminal deletion syndrome - - Malformation syndrome - - - - - - - - 171829 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171829 - 6q16 microdeletion syndrome - - Disease - - - - - - - - 251056 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251056 - 6q25.2q25.3 microdeletion syndrome - - Malformation syndrome - - - - - - - - - - - - 261796 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261796 - Partial deletion of chromosome 7 syndrome - - Category - - - - - - 261911 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261911 - Partial deletion of the short arm of chromosome 7 syndrome - - Category - - - - - - 96126 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96126 - Distal deletion 7p syndrome - - Malformation syndrome - - - - - - - - 658805 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=658805 - Greig cephalopolysyndactyly-contiguous gene syndrome - - Malformation syndrome - - - - - - - - - - 262056 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262056 - Partial deletion of the long arm of chromosome 7 syndrome - - Category - - - - - - 904 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=904 - Williams syndrome - - Malformation syndrome - - - - - - - - 1636 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1636 - Distal monosomy 7q36 syndrome - - Malformation syndrome - - - - - - - - 251061 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251061 - 7q31 microdeletion syndrome - - Malformation syndrome - - - - - - - - 254351 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254351 - Distal 7q11.23 microdeletion syndrome - - Malformation syndrome - - - - - - - - - - - - 261801 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261801 - Partial deletion of chromosome 8 syndrome - - Category - - - - - - 261920 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261920 - Partial deletion of the short arm of chromosome 8 syndrome - - Category - - - - - - 251066 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251066 - 8p11.2 deletion syndrome - - Malformation syndrome - - - - - - - - 251071 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251071 - 8p23.1 microdeletion syndrome - - Malformation syndrome - - - - - - - - - - 262065 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262065 - Partial deletion of the long arm of chromosome 8 syndrome - - Category - - - - - - 502 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=502 - Trichorhinophalangeal syndrome type 2 - - Malformation syndrome - - - - - - - - 2496 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2496 - Mesomelia-synostoses syndrome - - Malformation syndrome - - - - - - - - 178303 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178303 - 8q22.1 microdeletion syndrome - - Malformation syndrome - - - - - - - - 284160 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284160 - 8q21.11 microdeletion syndrome - - Malformation syndrome - - - - - - - - 508488 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508488 - 8q24.3 microdeletion syndrome - - Malformation syndrome - - - - - - - - - - - - 261806 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261806 - Partial deletion of chromosome 9 syndrome - - Category - - - - - - 261929 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261929 - Partial deletion of the short arm of chromosome 9 syndrome - - Category - - - - - - 1642 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1642 - Distal deletion 9p syndrome - - Malformation syndrome - - - - - - - - 261112 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261112 - Monosomy 9p syndrome - - Malformation syndrome - - - - - - - - 324313 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324313 - 9p13 microdeletion syndrome - - Malformation syndrome - - - - - - - - - - 262074 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262074 - Partial deletion of the long arm of chromosome 9 syndrome - - Category - - - - - - 77301 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77301 - Monosomy 9q22.3 syndrome - - Malformation syndrome - - - - - - - - 96147 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96147 - Kleefstra syndrome due to 9q34 microdeletion - - Etiological subtype - - - - - - - - 352665 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352665 - Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion - - Etiological subtype - - - - - - - - 401923 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401923 - 9q31.1q31.3 microdeletion syndrome - - Malformation syndrome - - - - - - - - 495818 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=495818 - 9q33.3q34.11 microdeletion syndrome - - Malformation syndrome - - - - - - - - 531151 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=531151 - 9q21.13 microdeletion syndrome - - Malformation syndrome - - - - - - - - - - - - 261811 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261811 - Partial deletion of chromosome 10 syndrome - - Category - - - - - - 261938 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261938 - Partial deletion of the short arm of chromosome 10 syndrome - - Category - - - - - - 1580 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1580 - Distal deletion 10p syndrome - - Clinical group - - - - - - 687695 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=687695 - 10p13-p14 deletion syndrome - - Malformation syndrome - - - - - - - - 687424 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=687424 - ZMYND11-related developmental delay-speech delay-seizures-behavioral abnormalities-craniofacial dysmorphism syndrome due to 10p15.3 microdeletion - - Etiological subtype - - - - - - - - - - 2237 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2237 - Hypoparathyroidism-sensorineural deafness-renal disease syndrome - - Malformation syndrome - - - - - - - - 284169 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284169 - Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion - - Clinical subtype - - - - - - - - - - 262083 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262083 - Partial deletion of the long arm of chromosome 10 syndrome - - Category - - - - - - 79076 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79076 - Juvenile polyposis of infancy - - Clinical subtype - - - - - - - - 1581 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1581 - Non-distal deletion 10q syndrome - - Malformation syndrome - - - - - - - - 96148 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96148 - Distal deletion 10q syndrome - - Malformation syndrome - - - - - - - - 276413 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276413 - 10q22.3q23.3 microdeletion syndrome - - Malformation syndrome - - - - - - - - - - - - 261816 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261816 - Partial deletion of chromosome 11 syndrome - - Category - - - - - - 261947 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261947 - Partial deletion of the short arm of chromosome 11 syndrome - - Category - - - - - - 893 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=893 - WAGR syndrome - - Malformation syndrome - - - - - - - - 52022 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52022 - Potocki-Shaffer syndrome - - Malformation syndrome - - - - - - - - 231127 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231127 - Beckwith-Wiedemann syndrome due to 11p15 microdeletion - - Etiological subtype - - - - - - - - - - 262092 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262092 - Partial deletion of the long arm of chromosome 11 syndrome - - Category - - - - - - 2308 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2308 - Jacobsen syndrome - - Malformation syndrome - - - - - - - - 2791 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2791 - Otodental syndrome - - Malformation syndrome - - - - - - - - 851 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=851 - Paris-Trousseau thrombocytopenia - - Disease - - - - - - - - 99806 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99806 - Oculootodental syndrome - - Malformation syndrome - - - - - - - - 444002 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444002 - 11q22.2q22.3 microdeletion syndrome - - Malformation syndrome - - - - - - - - - - - - 261826 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261826 - Partial deletion of chromosome 16 syndrome - - Category - - - - - - 261956 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261956 - Partial deletion of the short arm of chromosome 16 syndrome - - Category - - - - - - 88924 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88924 - Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis - - Disease - - - - - - - - 98791 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98791 - Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 - - Malformation syndrome - - - - - - - - 261197 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261197 - Proximal 16p11.2 microdeletion syndrome - - Malformation syndrome - - - - - - - - 261211 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261211 - 16p11.2p12.2 microdeletion syndrome - - Malformation syndrome - - - - - - - - 261222 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261222 - Distal 16p11.2 microdeletion syndrome - - Malformation syndrome - - - - - - - - 261236 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261236 - 16p13.11 microdeletion syndrome - - Malformation syndrome - - - - - - - - 353281 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353281 - Rubinstein-Taybi syndrome due to 16p13.3 microdeletion - - Etiological subtype - - - - - - - - 500055 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500055 - Hao-Fountain syndrome due to 16p13.2 microdeletion - - Etiological subtype - - - - - - - - - - 262128 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262128 - Partial deletion of the long arm of chromosome 16 syndrome - - Category - - - - - - 658540 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=658540 - 16q22 deletion syndrome - - Malformation syndrome - - - - - - - - 261250 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261250 - 16q24.3 microdeletion syndrome - - Malformation syndrome - - - - - - - - 352629 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352629 - 16q24.1 microdeletion syndrome - - Disease - - - - - - - - - - - - 261831 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261831 - Partial deletion of chromosome 17 syndrome - - Category - - - - - - 261965 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261965 - Partial deletion of the short arm of chromosome 17 syndrome - - Category - - - - - - 640 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=640 - Hereditary neuropathy with liability to pressure palsies - - Malformation syndrome - - - - - - - - 819 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=819 - Smith-Magenis syndrome - - Malformation syndrome - - - - - - - - 531 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=531 - Miller-Dieker syndrome - - Malformation syndrome - - - - - - - - 261257 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261257 - Distal 17p13.3 microdeletion syndrome - - Malformation syndrome - - - - - - - - 319171 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319171 - Distal 17p13.1 microdeletion syndrome - - Malformation syndrome - - - - - - - - - - 262137 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262137 - Partial deletion of the long arm of chromosome 17 syndrome - - Category - - - - - - 529962 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=529962 - 17q24.2 microdeletion syndrome - - Malformation syndrome - - - - - - - - 1597 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1597 - Distal deletion 17q syndrome - - Malformation syndrome - - - - - - - - 97685 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97685 - 17q11 microdeletion syndrome - - Clinical subtype - - - - - - - - 261265 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261265 - 17q12 microdeletion syndrome - - Malformation syndrome - - - - - - - - 261279 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261279 - 17q23.1q23.2 microdeletion syndrome - - Malformation syndrome - - - - - - - - 363958 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363958 - 17q21.31 microdeletion syndrome - - Etiological subtype - - - - - - - - - - - - 261836 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261836 - Partial deletion of chromosome 18 syndrome - - Category - - - - - - 261974 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261974 - Partial deletion of the short arm of chromosome 18 syndrome - - Category - - - - - - 1598 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1598 - Monosomy 18p syndrome - - Disease - - - - - - - - - - 262146 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262146 - Partial deletion of the long arm of chromosome 18 syndrome - - Category - - - - - - 1600 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1600 - Monosomy 18q syndrome - - Malformation syndrome - - - - - - - - - - - - 261841 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261841 - Partial deletion of chromosome 19 syndrome - - Category - - - - - - 261983 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261983 - Partial deletion of the short arm of chromosome 19 syndrome - - Category - - - - - - 96129 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96129 - Distal deletion 19p syndrome - - Malformation syndrome - - - - - - - - 254346 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254346 - 19p13.12 microdeletion syndrome - - Malformation syndrome - - - - - - - - 357001 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357001 - 19p13.13 microdeletion syndrome - - Malformation syndrome - - - - - - - - - - 262155 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262155 - Partial deletion of the long arm of chromosome 19 syndrome - - Category - - - - - - 217346 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217346 - 19q13.11 microdeletion syndrome - - Malformation syndrome - - - - - - - - - - - - 261846 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261846 - Partial deletion of chromosome 20 syndrome - - Category - - - - - - 261992 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261992 - Partial deletion of the short arm of chromosome 20 syndrome - - Category - - - - - - 261295 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261295 - 20p12.3 microdeletion syndrome - - Malformation syndrome - - - - - - - - 261600 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261600 - Alagille syndrome due to 20p12 microdeletion - - Etiological subtype - - - - - - - - 313781 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313781 - 20p13 microdeletion syndrome - - Malformation syndrome - - - - - - - - - - 262164 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262164 - Partial deletion of the long arm of chromosome 20 syndrome - - Category - - - - - - 261304 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261304 - Paternal 20q13.2q13.3 microdeletion syndrome - - Malformation syndrome - - - - - - - - 261311 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261311 - 20q13.33 microdeletion syndrome - - Malformation syndrome - - - - - - - - 261638 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261638 - Okihiro syndrome due to 20q13 microdeletion - - Etiological subtype - - - - - - - - 444051 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444051 - 20q11.2 microdeletion syndrome - - Malformation syndrome - - - - - - - - - - - - 262101 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262101 - Partial deletion of the long arm of chromosome 13 syndrome - - Category - - - - - - 1587 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1587 - Monosomy 13q14 syndrome - - Malformation syndrome - - - - - - - - 1590 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1590 - Distal deletion 13q syndrome - - Malformation syndrome - - - - - - - - 96168 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96168 - Monosomy 13q34 syndrome - - Malformation syndrome - - - - - - - - 412035 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=412035 - 13q12.3 microdeletion syndrome - - Malformation syndrome - - - - - - - - - - 262110 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262110 - Partial deletion of the long arm of chromosome 14 syndrome - - Category - - - - - - 96150 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96150 - Distal deletion 14q syndrome - - Malformation syndrome - - - - - - - - 254525 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254525 - Temple syndrome due to paternal 14q32.2 microdeletion - - Etiological subtype - - - - - - - - 254528 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254528 - Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion - - Etiological subtype - - - - - - - - 261120 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261120 - 14q11.2 microdeletion syndrome - - Malformation syndrome - - - - - - - - 261144 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261144 - FOXG1 syndrome due to 14q12 microdeletion - - Clinical subtype - - - - - - - - 264200 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=264200 - 14q22q23 microdeletion syndrome - - Malformation syndrome - - - - - - - - 401935 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401935 - 14q24.1q24.3 microdeletion syndrome - - Malformation syndrome - - - - - - - - - - 262119 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262119 - Partial deletion of the long arm of chromosome 15 syndrome - - Category - - - - - - 1596 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1596 - Distal deletion 15q syndrome - - Malformation syndrome - - - - - - - - 94064 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94064 - Deafness-infertility syndrome - - Malformation syndrome - - - - - - - - 94065 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94065 - 15q24 microdeletion syndrome - - Etiological subtype - - - - - - - - 98793 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98793 - Prader-Willi syndrome due to paternal 15q11q13 deletion - - Etiological subtype - - - - - - 177901 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=177901 - Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 - - Etiological subtype - - - - - - - - 177904 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=177904 - Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 - - Etiological subtype - - - - - - - - - - 98794 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98794 - Angelman syndrome due to maternal 15q11q13 deletion - - Etiological subtype - - - - - - - - 199318 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199318 - 15q13.3 microdeletion syndrome - - Malformation syndrome - - - - - - - - 261183 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261183 - 15q11.2 microdeletion syndrome - - Malformation syndrome - - - - - - - - 261190 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261190 - Cleft palate-congenital heart defect-intellectual disability syndrome due to 15q14 microdeletion - - Clinical subtype - - - - - - - - - - 262173 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262173 - Partial deletion of the long arm of chromosome 21 syndrome - - Category - - - - - - 574 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=574 - 21q deletion syndrome - - Malformation syndrome - - - - - - - - 261323 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261323 - 21q22.11q22.12 microdeletion syndrome - - Malformation syndrome - - - - - - - - 268261 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268261 - DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion - - Etiological subtype - - - - - - - - - - 262182 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262182 - Partial deletion of the long arm of chromosome 22 syndrome - - Category - - - - - - 567 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=567 - 22q11.2 deletion syndrome - - Malformation syndrome - - - - - - - - 662169 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662169 - Phelan-McDermid syndrome due to 22q13.3 deletion - - Etiological subtype - - - - - - - - 261330 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261330 - Distal 22q11.2 microdeletion syndrome - - Malformation syndrome - - - - - - - - - - 282124 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=282124 - Partial deletion of chromosome 12 syndrome - - Category - - - - - - 261821 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261821 - Partial deletion of the long arm of chromosome 12 syndrome - - Category - - - - - - 94063 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94063 - 12q14 microdeletion syndrome - - Malformation syndrome - - - - - - - - 96149 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96149 - Distal deletion 12q syndrome - - Malformation syndrome - - - - - - - - 96160 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96160 - Non-distal deletion 12q syndrome - - Malformation syndrome - - - - - - - - 289513 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289513 - 12q15q21 microdeletion syndrome - - Etiological subtype - - - - - - - - - - 316244 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=316244 - Partial deletion of the short arm of chromosome 12 syndrome - - Category - - - - - - 280325 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280325 - Distal deletion 12p syndrome - - Malformation syndrome - - - - - - - - 313884 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313884 - 12p12.1 microdeletion syndrome - - Clinical subtype - - - - - - - - - - - - - - - - 263708 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263708 - Complex chromosomal rearrangement syndrome - - Category - - - - - - 498488 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498488 - Overgrowth syndrome with 2q37 translocation - - Malformation syndrome - - - - - - - - 195 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=195 - Cat-eye syndrome - - Malformation syndrome - - - - - - - - 3306 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3306 - Inverted duplicated chromosome 15 syndrome - - Malformation syndrome - - - - - - - - 96092 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96092 - 8p inverted duplication/deletion syndrome - - Malformation syndrome - - - - - - - - 96167 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96167 - Recombinant 8 syndrome - - Malformation syndrome - - - - - - - - 96170 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96170 - Emanuel syndrome - - Malformation syndrome - - - - - - - - 231130 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231130 - Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion - - Etiological subtype - - - - - - - - 369950 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369950 - Intellectual disability-seizures-macrocephaly-obesity syndrome - - Disease - - - - - - - - - - - - 98155 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98155 - Sex-chromosome anomaly syndrome - - Category - - - - - - 98156 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98156 - Sex-chromosome number anomaly syndrome - - Category - - - - - - 263714 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263714 - X chromosome number anomaly syndrome - - Category - - - - - - 263717 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263717 - X chromosome number anomaly with female phenotype syndrome - - Category - - - - - - 881 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=881 - Turner syndrome - - Malformation syndrome - - - - - - 99226 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99226 - Monosomy X syndrome - - Etiological subtype - - - - - - - - 99228 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99228 - Mosaic monosomy X syndrome - - Etiological subtype - - - - - - - - 99413 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99413 - Turner syndrome due to structural X chromosome anomalies - - Etiological subtype - - - - - - - - - - 263723 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263723 - Polysomy of X chromosome syndrome - - Category - - - - - - 11 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=11 - Pentasomy X syndrome - - Malformation syndrome - - - - - - - - 9 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=9 - Tetrasomy X syndrome - - Malformation syndrome - - - - - - - - 3375 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3375 - Trisomy X syndrome - - Malformation syndrome - - - - - - - - - - - - 263720 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263720 - X chromosome number anomaly with male phenotype syndrome - - Category - - - - - - 96263 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96263 - 48,XXXY syndrome - - Malformation syndrome - - - - - - - - 96264 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96264 - 49,XXXXY syndrome - - Malformation syndrome - - - - - - - - - - - - 263746 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263746 - Y chromosome number anomaly syndrome - - Category - - - - - - 8 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=8 - 47,XYY syndrome - - Malformation syndrome - - - - - - - - 1772 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1772 - 45,X/46,XY mixed gonadal dysgenesis - - Malformation syndrome - - - - - - - - 99329 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99329 - 48,XYYY syndrome - - Malformation syndrome - - - - - - - - 99330 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99330 - 49,XYYYY syndrome - - Malformation syndrome - - - - - - - - - - 263749 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263749 - X and Y chromosomal anomaly syndrome - - Category - - - - - - 10 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=10 - 48,XXYY syndrome - - Malformation syndrome - - - - - - - - 199310 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199310 - Tetragametic chimerism syndrome - - Malformation syndrome - - - - - - - - 261534 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261534 - 49,XXXYY syndrome - - Malformation syndrome - - - - - - - - - - - - 98157 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98157 - Sex-chromosome structural anomaly syndrome - - Category - - - - - - 98158 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98158 - Chromosome Y structural anomaly syndrome - - Category - - - - - - 1646 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1646 - Chromosome Y microdeletion syndrome - - Malformation syndrome - - - - - - - - 96325 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96325 - Isochromosome Y syndrome - - Category - - - - - - 98797 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98797 - Isochromosomy Yp syndrome - - Malformation syndrome - - - - - - - - 98798 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98798 - Isochromosomy Yq syndrome - - Malformation syndrome - - - - - - - - - - 261529 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261529 - Ring chromosome Y syndrome - - Malformation syndrome - - - - - - - - - - 98159 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98159 - Chromosome X structural anomaly syndrome - - Category - - - - - - 96201 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96201 - X small rings syndrome - - Malformation syndrome - - - - - - - - 263726 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263726 - Partial deletion of chromosome X syndrome - - Category - - - - - - 263731 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263731 - Partial deletion of the short arm of the chromosome X syndrome - - Category - - - - - - 1643 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1643 - Xp22.3 microdeletion syndrome - - Malformation syndrome - - - - - - - - 85332 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85332 - X-linked intellectual disability-retinitis pigmentosa syndrome - - Disease - - - - - - - - 261476 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261476 - Xp21 deletion syndrome - - Disease - - - - - - - - 261501 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261501 - Atypical Norrie disease due to Xp11.3 microdeletion - - Malformation syndrome - - - - - - - - - - 263756 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263756 - Partial deletion of the long arm of chromosome X syndrome - - Category - - - - - - 1018 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1018 - X-linked Alport syndrome-diffuse leiomyomatosis - - Clinical subtype - - - - - - - - 86818 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86818 - Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome - - Disease - - - - - - - - 456328 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=456328 - X-linked myotubular myopathy-abnormal genitalia syndrome - - Disease - - - - - - - - - - - - 263768 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263768 - Partial duplication of chromosome X syndrome - - Category - - - - - - 263775 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263775 - Partial duplication of the short arm of chromosome X syndrome - - Category - - - - - - 217377 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217377 - Microduplication Xp11.22p11.23 syndrome - - Malformation syndrome - - - - - - - - 284180 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284180 - Xp22.13p22.2 duplication syndrome - - Malformation syndrome - - - - - - - - - - 263783 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263783 - Partial duplication of the long arm of chromosome X syndrome - - Category - - - - - - 521258 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521258 - Xq25 microduplication syndrome - - Malformation syndrome - - - - - - - - 1762 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1762 - Proximal Xq28 duplication syndrome - - Malformation syndrome - - - - - - - - 261483 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261483 - Xq27.3q28 duplication syndrome - - Malformation syndrome - - - - - - - - 293939 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293939 - Distal Xq28 microduplication syndrome - - Malformation syndrome - - - - - - - - 314389 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314389 - Xq12-q13.3 duplication syndrome - - Malformation syndrome - - - - - - - - - - - - 263793 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263793 - Uniparental disomy of chromosome X syndrome - - Category - - - - - - 261519 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261519 - Maternal uniparental disomy of chromosome X syndrome - - Malformation syndrome - - - - - - - - 261524 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261524 - Paternal uniparental disomy of chromosome X syndrome - - Malformation syndrome - - - - - - - - - - - - - - - - - - 68336 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=68336 - Rare genetic tumor - - Category - - - - - - 183487 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183487 - Genetic skin tumor or hamartoma - - Category - - - - - - 636 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=636 - Neurofibromatosis type 1 - - Disease - - - - - - 97685 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97685 - 17q11 microdeletion syndrome - - Clinical subtype - - - - - - - - 363700 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363700 - Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion - - Etiological subtype - - - - - - - - - - 805 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=805 - Tuberous sclerosis complex - - Disease - - - - - - - - 638 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=638 - Neurofibromatosis-Noonan syndrome - - Malformation syndrome - - - - - - - - 377 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=377 - Gorlin syndrome - - Malformation syndrome - - - - - - - - 113 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=113 - Bazex-Dupré-Christol syndrome - - Disease - - - - - - - - 2396 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2396 - Encephalocraniocutaneous lipomatosis - - Disease - - - - - - - - 840 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=840 - Syringocystadenoma papilliferum - - Disease - - - - - - - - 3110 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3110 - Rombo syndrome - - Disease - - - - - - - - 2591 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2591 - Infantile myofibromatosis - - Disease - - - - - - - - 618 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=618 - Familial melanoma - - Disease - - - - - - - - 122 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=122 - Birt-Hogg-Dubé syndrome - - Malformation syndrome - - - - - - - - 493 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=493 - Familial keratoacanthoma - - Disease - - - - - - - - 523 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=523 - Hereditary leiomyomatosis and renal cell cancer - - Disease - - - - - - - - 31112 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=31112 - Dermatofibrosarcoma protuberans - - Disease - - - - - - - - 53715 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53715 - Familial tumoral calcinosis - - Disease - - - - - - 306658 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306658 - Familial normophosphatemic tumoral calcinosis - - Clinical subtype - - - - - - - - 306661 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306661 - Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome - - Clinical subtype - - - - - - - - - - 65748 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65748 - Multiple self-healing squamous epithelioma - - Disease - - - - - - - - 79493 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79493 - Brooke-Spiegler syndrome - - Disease - - - - - - 211 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=211 - Familial cylindromatosis - - Clinical subtype - - - - - - - - 867 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=867 - Familial multiple trichoepithelioma - - Clinical subtype - - - - - - - - - - 306498 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306498 - PTEN hamartoma tumor syndrome - - Disease - - - - - - 201 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=201 - Cowden syndrome - - Clinical subtype - - - - - - - - 65285 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65285 - Lhermitte-Duclos disease - - Clinical subtype - - - - - - - - 109 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=109 - Bannayan-Riley-Ruvalcaba syndrome - - Clinical subtype - - - - - - - - 2969 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2969 - Proteus-like syndrome - - Clinical subtype - - - - - - - - 137608 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137608 - Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome - - Clinical subtype - - - - - - - - - - 168632 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168632 - Generalized basaloid follicular hamartoma syndrome - - Disease - - - - - - - - 276280 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276280 - Hemihyperplasia-multiple lipomatosis syndrome - - Malformation syndrome - - - - - - - - 404560 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404560 - Familial atypical multiple mole melanoma syndrome - - Disease - - - - - - - - 622914 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=622914 - Rare genetic nevus - - Category - - - - - - 201 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=201 - Cowden syndrome - - Clinical subtype - - - - - - - - 744 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=744 - Proteus syndrome - - Malformation syndrome - - - - - - - - 139 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139 - CHILD syndrome - - Disease - - - - - - - - 35125 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35125 - Epidermal nevus syndrome - - Disease - - - - - - - - 497737 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=497737 - Epidermolytic nevus - - Disease - - - - - - - - 497757 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=497757 - MME-related autosomal dominant Charcot Marie Tooth disease type 2 - - Disease - - - - - - - - 626 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=626 - Large/giant congenital melanocytic nevus - - Disease - - - - - - - - 2612 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2612 - Linear nevus sebaceus syndrome - - Disease - - - - - - - - 2874 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2874 - Phakomatosis pigmentokeratotica - - Malformation syndrome - - - - - - - - 2969 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2969 - Proteus-like syndrome - - Clinical subtype - - - - - - - - 64754 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64754 - Nevus comedonicus syndrome - - Disease - - - - - - - - 64755 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64755 - Becker nevus syndrome - - Disease - - - - - - - - 137608 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137608 - Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome - - Clinical subtype - - - - - - - - 140944 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140944 - CLOVES syndrome - - Malformation syndrome - - - - - - - - 166286 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166286 - Porokeratotic eccrine ostial and dermal duct nevus - - Disease - - - - - - - - 171723 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171723 - White sponge nevus - - Disease - - - - - - - - 313936 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313936 - PENS syndrome - - Disease - - - - - - - - - - 538756 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=538756 - Familial multiple discoid fibromas - - Disease - - - - - - - - - - 183527 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183527 - Genetic bone tumor - - Category - - - - - - 296 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=296 - Ollier disease - - Disease - - - - - - - - 2760 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2760 - OSLAM syndrome - - Malformation syndrome - - - - - - - - 321 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=321 - Multiple osteochondromas - - Disease - - - - - - - - 178 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178 - Chordoma - - Disease - - - - - - - - 85182 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85182 - Diaphyseal medullary stenosis-bone malignancy syndrome - - Disease - - - - - - - - 163634 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163634 - Maffucci syndrome - - Disease - - - - - - - - 435329 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435329 - Familial ossifying fibroma - - Disease - - - - - - - - - - 183595 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183595 - Genetic renal tumor - - Category - - - - - - 654 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=654 - Nephroblastoma - - Disease - - - - - - - - 457246 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457246 - Clear cell sarcoma of kidney - - Disease - - - - - - - - - - 183619 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183619 - Genetic eye tumor - - Category - - - - - - 357027 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357027 - Hereditary retinoblastoma - - Clinical subtype - - - - - - - - 636 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=636 - Neurofibromatosis type 1 - - Disease - - - - - - 97685 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97685 - 17q11 microdeletion syndrome - - Clinical subtype - - - - - - - - 363700 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363700 - Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion - - Etiological subtype - - - - - - - - - - 91481 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91481 - Ring dermoid of cornea - - Disease - - - - - - - - - - 183734 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183734 - Genetic gynecological tumor - - Category - - - - - - 227535 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=227535 - Hereditary breast cancer - - Disease - - - - - - - - - - 271832 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=271832 - Genetic soft tissue tumor - - Category - - - - - - 2591 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2591 - Infantile myofibromatosis - - Disease - - - - - - - - 31112 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=31112 - Dermatofibrosarcoma protuberans - - Disease - - - - - - - - - - 271835 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=271835 - Genetic digestive tract tumor - - Category - - - - - - 733 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=733 - Familial adenomatous polyposis - - Disease - - - - - - - - 2869 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2869 - Peutz-Jeghers syndrome - - Disease - - - - - - - - 201 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=201 - Cowden syndrome - - Clinical subtype - - - - - - - - 26106 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=26106 - Hereditary diffuse gastric cancer - - Disease - - - - - - - - 44890 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=44890 - Gastrointestinal stromal tumor - - Disease - - - - - - - - 220460 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220460 - Attenuated familial adenomatous polyposis - - Disease - - - - - - - - 443909 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443909 - Hereditary nonpolyposis colon cancer - - Clinical group - - - - - - 144 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=144 - Lynch syndrome - - Disease - - - - - - - - 440437 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=440437 - Familial colorectal cancer Type X - - Disease - - - - - - - - - - - - 271841 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=271841 - Genetic cardiac tumor - - Category - - - - - - 1359 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1359 - Carney complex - - Disease - - - - - - - - 615 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=615 - Familial atrial myxoma - - Disease - - - - - - - - 319340 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319340 - Carney complex-trismus-pseudocamptodactyly syndrome - - Disease - - - - - - - - - - 271844 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=271844 - Genetic urogenital tumor - - Category - - - - - - 1331 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1331 - Familial prostate cancer - - Disease - - - - - - - - - - 271847 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=271847 - Genetic neuroendocrine tumor - - Category - - - - - - 178 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178 - Chordoma - - Disease - - - - - - - - 404 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404 - Familial hyperaldosteronism type II - - Disease - - - - - - - - 29072 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=29072 - Hereditary pheochromocytoma-paraganglioma - - Disease - - - - - - - - 100094 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100094 - Multiple polyglandular tumor - - Category - - - - - - 892 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=892 - Von Hippel-Lindau disease - - Disease - - - - - - - - 1359 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1359 - Carney complex - - Disease - - - - - - - - 97286 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97286 - Carney-Stratakis syndrome - - Disease - - - - - - - - 139411 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139411 - Carney triad - - Disease - - - - - - - - 276161 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276161 - Multiple endocrine neoplasia - - Clinical group - - - - - - 652 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=652 - Multiple endocrine neoplasia type 1 - - Disease - - - - - - - - 653 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=653 - Multiple endocrine neoplasia type 2 - - Disease - - - - - - 247698 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247698 - Multiple endocrine neoplasia type 2A - - Clinical subtype - - - - - - - - 247709 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247709 - Multiple endocrine neoplasia type 2B - - Clinical subtype - - - - - - - - - - 276152 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276152 - Multiple endocrine neoplasia type 4 - - Disease - - - - - - - - - - - - 319494 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319494 - Familial nonmedullary thyroid carcinoma - - Clinical group - - - - - - 97290 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97290 - Familial papillary thyroid carcinoma with renal papillary neoplasia - - Disease - - - - - - - - 319487 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319487 - Familial papillary or follicular thyroid carcinoma - - Disease - - - - - - - - - - 324299 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324299 - Multiple paragangliomas associated with polycythemia - - Disease - - - - - - - - - - 322126 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=322126 - Genetic tumor of hematopoietic and lymphoid tissues - - Category - - - - - - 319465 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319465 - Inherited acute myeloid leukemia - - Disease - - - - - - - - 319480 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319480 - Acute myeloid leukemia with CEBPA somatic mutations - - Disease - - - - - - - - - - - - 68346 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=68346 - Rare genetic skin disease - - Category - - - - - - 622720 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=622720 - Genetic autoinflammatory syndrome with skin involvement - - Category - - - - - - 617919 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=617919 - F12-associated cold autoinflammatory syndrome - - Disease - - - - - - - - 32960 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=32960 - Tumor necrosis factor receptor 1 associated periodic syndrome - - Disease - - - - - - - - 77297 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77297 - Majeed syndrome - - Disease - - - - - - - - 90340 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90340 - Blau syndrome - - Disease - - - - - - - - 208650 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=208650 - NLRP3-associated autoinflammatory disease - - Clinical group - - - - - - 575 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=575 - Muckle-Wells syndrome - - Disease - - - - - - - - 1451 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1451 - CINCA syndrome - - Disease - - - - - - - - 47045 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=47045 - Familial cold urticaria - - Disease - - - - - - - - 647815 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=647815 - Keratitis fugax hereditaria - - Disease - - - - - - - - - - 210115 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210115 - Sterile multifocal osteomyelitis with periostitis and pustulosis - - Disease - - - - - - - - 247868 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247868 - NLRP12-associated hereditary periodic fever syndrome - - Disease - - - - - - - - 251523 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251523 - Hyperzincemia and hypercalprotectinemia - - Disease - - - - - - - - 294023 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294023 - Neonatal inflammatory skin and bowel disease - - Disease - - - - - - - - 309025 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309025 - Mevalonate kinase deficiency - - Disease - - - - - - 29 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=29 - Mevalonic aciduria - - Clinical subtype - - - - - - - - 343 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=343 - Hyperimmunoglobulinemia D with periodic fever - - Clinical subtype - - - - - - - - - - 324977 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324977 - Proteasome-associated autoinflammatory syndrome - - Disease - - - - - - - - 404546 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404546 - DITRA - - Disease - - - - - - - - 425120 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=425120 - STING-associated vasculopathy with onset in infancy - - Disease - - - - - - - - 436166 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436166 - Periodic fever-infantile enterocolitis-autoinflammatory syndrome - - Disease - - - - - - - - 576349 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=576349 - NLRC4-related familial cold autoinflammatory syndrome - - Disease - - - - - - - - 619367 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=619367 - SAMD9L-associated autoinflammatory syndrome - - Disease - - - - - - - - 3243 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3243 - Sweet syndrome - - Disease - - - - - - - - 619363 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=619363 - NOCARH syndrome - - Disease - - - - - - - - 674762 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=674762 - Early-onset autoinflammatory syndrome due to A20 haploinsufficiency - - Disease - - - - - - - - 652510 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=652510 - Genetic autoinflammatory syndrome with acne and/or hidradenitis suppurativa - - Clinical group - - - - - - 641380 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=641380 - PAPASH syndrome - - Disease - - - - - - - - 69126 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69126 - PAPA syndrome - - Disease - - - - - - - - 289478 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289478 - PASH syndrome - - Disease - - - - - - - - - - - - 183487 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183487 - Genetic skin tumor or hamartoma - - Category - - - - - - 636 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=636 - Neurofibromatosis type 1 - - Disease - - - - - - 97685 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97685 - 17q11 microdeletion syndrome - - Clinical subtype - - - - - - - - 363700 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363700 - Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion - - Etiological subtype - - - - - - - - - - 805 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=805 - Tuberous sclerosis complex - - Disease - - - - - - - - 638 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=638 - Neurofibromatosis-Noonan syndrome - - Malformation syndrome - - - - - - - - 377 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=377 - Gorlin syndrome - - Malformation syndrome - - - - - - - - 113 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=113 - Bazex-Dupré-Christol syndrome - - Disease - - - - - - - - 2396 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2396 - Encephalocraniocutaneous lipomatosis - - Disease - - - - - - - - 840 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=840 - Syringocystadenoma papilliferum - - Disease - - - - - - - - 3110 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3110 - Rombo syndrome - - Disease - - - - - - - - 2591 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2591 - Infantile myofibromatosis - - Disease - - - - - - - - 618 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=618 - Familial melanoma - - Disease - - - - - - - - 122 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=122 - Birt-Hogg-Dubé syndrome - - Malformation syndrome - - - - - - - - 493 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=493 - Familial keratoacanthoma - - Disease - - - - - - - - 523 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=523 - Hereditary leiomyomatosis and renal cell cancer - - Disease - - - - - - - - 31112 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=31112 - Dermatofibrosarcoma protuberans - - Disease - - - - - - - - 53715 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53715 - Familial tumoral calcinosis - - Disease - - - - - - 306658 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306658 - Familial normophosphatemic tumoral calcinosis - - Clinical subtype - - - - - - - - 306661 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306661 - Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome - - Clinical subtype - - - - - - - - - - 65748 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65748 - Multiple self-healing squamous epithelioma - - Disease - - - - - - - - 79493 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79493 - Brooke-Spiegler syndrome - - Disease - - - - - - 211 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=211 - Familial cylindromatosis - - Clinical subtype - - - - - - - - 867 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=867 - Familial multiple trichoepithelioma - - Clinical subtype - - - - - - - - - - 306498 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306498 - PTEN hamartoma tumor syndrome - - Disease - - - - - - 201 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=201 - Cowden syndrome - - Clinical subtype - - - - - - - - 65285 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65285 - Lhermitte-Duclos disease - - Clinical subtype - - - - - - - - 109 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=109 - Bannayan-Riley-Ruvalcaba syndrome - - Clinical subtype - - - - - - - - 2969 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2969 - Proteus-like syndrome - - Clinical subtype - - - - - - - - 137608 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137608 - Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome - - Clinical subtype - - - - - - - - - - 168632 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168632 - Generalized basaloid follicular hamartoma syndrome - - Disease - - - - - - - - 276280 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276280 - Hemihyperplasia-multiple lipomatosis syndrome - - Malformation syndrome - - - - - - - - 404560 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404560 - Familial atypical multiple mole melanoma syndrome - - Disease - - - - - - - - 622914 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=622914 - Rare genetic nevus - - Category - - - - - - 201 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=201 - Cowden syndrome - - Clinical subtype - - - - - - - - 744 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=744 - Proteus syndrome - - Malformation syndrome - - - - - - - - 139 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139 - CHILD syndrome - - Disease - - - - - - - - 35125 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35125 - Epidermal nevus syndrome - - Disease - - - - - - - - 497737 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=497737 - Epidermolytic nevus - - Disease - - - - - - - - 497757 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=497757 - MME-related autosomal dominant Charcot Marie Tooth disease type 2 - - Disease - - - - - - - - 626 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=626 - Large/giant congenital melanocytic nevus - - Disease - - - - - - - - 2612 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2612 - Linear nevus sebaceus syndrome - - Disease - - - - - - - - 2874 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2874 - Phakomatosis pigmentokeratotica - - Malformation syndrome - - - - - - - - 2969 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2969 - Proteus-like syndrome - - Clinical subtype - - - - - - - - 64754 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64754 - Nevus comedonicus syndrome - - Disease - - - - - - - - 64755 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64755 - Becker nevus syndrome - - Disease - - - - - - - - 137608 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137608 - Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome - - Clinical subtype - - - - - - - - 140944 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140944 - CLOVES syndrome - - Malformation syndrome - - - - - - - - 166286 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166286 - Porokeratotic eccrine ostial and dermal duct nevus - - Disease - - - - - - - - 171723 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171723 - White sponge nevus - - Disease - - - - - - - - 313936 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313936 - PENS syndrome - - Disease - - - - - - - - - - 538756 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=538756 - Familial multiple discoid fibromas - - Disease - - - - - - - - - - 77240 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77240 - Primary lymphedema - - Category - - - - - - 568041 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=568041 - Primary lymphedema without systemic or visceral involvement - - Category - - - - - - 2416 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2416 - Congenital primary lymphedema without systemic or visceral involvement - - Clinical group - - - - - - 295000 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295000 - Amniotic band syndrome - - Malformation syndrome - - - - - - - - 79452 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79452 - Milroy disease - - Disease - - - - - - - - 2526 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2526 - Microcephaly-lymphedema-chorioretinopathy syndrome - - Malformation syndrome - - - - - - - - 2077 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2077 - German syndrome - - Malformation syndrome - - - - - - - - 569821 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=569821 - Congenital primary lymphedema of Gordon - - Disease - - - - - - - - - - 289825 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289825 - Late-onset primary lymphedema without systemic or visceral involvement - - Clinical group - - - - - - 568051 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=568051 - GJC2-related late-onset primary lymphedema - - Disease - - - - - - - - 1414 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1414 - Cholestasis-lymphedema syndrome - - Disease - - - - - - - - 99141 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99141 - Lymphedema-posterior choanal atresia syndrome - - Malformation syndrome - - - - - - - - 33001 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33001 - Lymphedema-distichiasis syndrome - - Malformation syndrome - - - - - - - - 569816 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=569816 - CELSR1-related late-onset primary lymphedema - - Disease - - - - - - - - 90186 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90186 - Meige disease - - Disease - - - - - - - - - - - - 568044 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=568044 - Primary lymphedema with systemic or visceral involvement - - Category - - - - - - 1563 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1563 - Dahlberg-Borer-Newcomer syndrome - - Malformation syndrome - - - - - - - - 662 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662 - Lymphedema with yellow nails - - Disease - - - - - - - - 69735 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69735 - Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome - - Disease - - - - - - - - 1116 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1116 - Aplasia cutis congenita-intestinal lymphangiectasia syndrome - - Disease - - - - - - - - 86915 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86915 - Lymphedema-atrial septal defects-facial changes syndrome - - Malformation syndrome - - - - - - - - 568056 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=568056 - Warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome - - Disease - - - - - - - - 568062 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=568062 - PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis - - Disease - - - - - - - - 568065 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=568065 - EPHB4-related lymphatic-related hydrops fetalis - - Disease - - - - - - - - 2136 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2136 - Hennekam syndrome - - Malformation syndrome - - - - - - - - - - 568047 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=568047 - Disorder with multisystemic involvement and primary lymphedema - - Category - - - - - - 324 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324 - Fabry disease - - Disease - - - - - - - - 487796 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=487796 - Takenouchi-Kosaki syndrome - - Malformation syndrome - - - - - - - - 648 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=648 - Noonan syndrome - - Malformation syndrome - - - - - - - - 881 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=881 - Turner syndrome - - Malformation syndrome - - - - - - 99226 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99226 - Monosomy X syndrome - - Etiological subtype - - - - - - - - 99228 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99228 - Mosaic monosomy X syndrome - - Etiological subtype - - - - - - - - 99413 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99413 - Turner syndrome due to structural X chromosome anomalies - - Etiological subtype - - - - - - - - - - 805 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=805 - Tuberous sclerosis complex - - Disease - - - - - - - - 1340 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1340 - Cardiofaciocutaneous syndrome - - Malformation syndrome - - - - - - - - 742 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=742 - Prolidase deficiency - - Disease - - - - - - - - 2710 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2710 - Oculodentodigital dysplasia - - Malformation syndrome - - - - - - - - 2836 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2836 - PEHO syndrome - - Disease - - - - - - - - 1655 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1655 - Müllerian derivatives-lymphangiectasia-polydactyly syndrome - - Malformation syndrome - - - - - - - - 48652 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=48652 - Phelan-McDermid syndrome - - Malformation syndrome - - - - - - 662172 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662172 - Phelan-McDermid syndrome due to SHANK3 mutation - - Etiological subtype - - - - - - - - 662169 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662169 - Phelan-McDermid syndrome due to 22q13.3 deletion - - Etiological subtype - - - - - - - - - - 69088 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69088 - Hypohidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome - - Disease - - - - - - - - 99807 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99807 - PEHO-like syndrome - - Disease - - - - - - - - - - - - 79385 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79385 - Unclassified genetic skin disorder - - Category - - - - - - 1954 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1954 - Congenital lethal erythroderma - - Disease - - - - - - - - 2505 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2505 - Multiple benign circumferential skin creases on limbs - - Disease - - - - - - - - 2812 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2812 - Parana hard skin syndrome - - Disease - - - - - - - - 2833 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2833 - Stiff skin syndrome - - Disease - - - - - - - - 83628 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83628 - LUMBAR syndrome - - Malformation syndrome - - - - - - - - 231031 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231031 - Erythema palmare hereditarium - - Disease - - - - - - - - - - 79387 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79387 - Metabolic disease with skin involvement - - Category - - - - - - 251523 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251523 - Hyperzincemia and hypercalprotectinemia - - Disease - - - - - - - - 56 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=56 - Alkaptonuria - - Disease - - - - - - - - 148 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=148 - Multiple carboxylase deficiency - - Clinical group - - - - - - - - 738 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=738 - Porphyria - - Clinical group - - - - - - 659681 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=659681 - Erythropoietic porphyria - - Clinical group - - - - - - 79277 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79277 - Congenital erythropoietic porphyria - - Disease - - - - - - - - 79278 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79278 - Autosomal erythropoietic protoporphyria - - Disease - - - - - - - - 443197 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443197 - X-linked erythropoietic protoporphyria - - Disease - - - - - - - - 280379 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280379 - Erythropoietic uroporphyria associated with myeloid malignancy - - Disease - - - - - - - - 95159 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95159 - Hepatoerythropoietic porphyria - - Disease - - - - - - - - 659672 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=659672 - Harderoporphyria - - Disease - - - - - - - - - - 659694 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=659694 - Hepatic porphyria - - Clinical group - - - - - - 95157 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95157 - Acute hepatic porphyria - - Clinical group - - - - - - 79273 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79273 - Hereditary coproporphyria - - Disease - - - - - - - - 79276 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79276 - Acute intermittent porphyria - - Disease - - - - - - - - 79473 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79473 - Variegate porphyria - - Disease - - - - - - - - 100924 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100924 - Porphyria due to ALA dehydratase deficiency - - Disease - - - - - - - - - - 659698 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=659698 - Hepatic cutaneous porphyria - - Clinical group - - - - - - 101330 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101330 - Porphyria cutanea tarda - - Disease - - - - - - 443057 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443057 - Sporadic porphyria cutanea tarda - - Clinical subtype - - - - - - - - 443062 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443062 - Familial porphyria cutanea tarda - - Clinical subtype - - - - - - - - - - - - - - - - 37 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=37 - Acrodermatitis enteropathica - - Disease - - - - - - - - 742 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=742 - Prolidase deficiency - - Disease - - - - - - - - 79388 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79388 - Mucopolysaccharidosis with skin involvement - - Category - - - - - - 580 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=580 - Mucopolysaccharidosis type 2 - - Disease - - - - - - 217085 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217085 - Mucopolysaccharidosis type 2, severe form - - Clinical subtype - - - - - - - - 217093 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217093 - Mucopolysaccharidosis type 2, attenuated form - - Clinical subtype - - - - - - - - - - - - 371200 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=371200 - Congenital disorder of glycosylation with skin involvement - - Category - - - - - - 2953 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2953 - Musculocontractural Ehlers-Danlos syndrome - - Disease - - - - - - - - 3474 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3474 - CHIME syndrome - - Malformation syndrome - - - - - - - - 79145 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79145 - Dowling-Degos disease - - Disease - - - - - - - - 79318 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79318 - PMM2-CDG - - Disease - - - - - - - - 79323 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79323 - MPDU1-CDG - - Disease - - - - - - - - 79333 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79333 - COG7-CDG - - Disease - - - - - - - - 91131 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91131 - DK1-CDG - - Disease - - - - - - - - 692790 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=692790 - ATP6AP1-CDG - - Disease - - - - - - - - 306661 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306661 - Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome - - Clinical subtype - - - - - - - - 324737 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324737 - SRD5A3-CDG - - Disease - - - - - - - - 357058 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357058 - Autosomal recessive cutis laxa type 2A - - Disease - - - - - - 2834 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2834 - Wrinkly skin syndrome - - Clinical subtype - - - - - - - - 357074 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357074 - Autosomal recessive cutis laxa type 2, classic type - - Clinical subtype - - - - - - - - - - 370933 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370933 - GM3 synthase deficiency - - Disease - - - - - - - - - - - - 79389 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79389 - Premature aging - - Category - - - - - - 2109 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2109 - Hallermann-Streiff-like syndrome - - Malformation syndrome - - - - - - - - 191 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=191 - Cockayne syndrome - - Disease - - - - - - 1466 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1466 - COFS syndrome - - Clinical subtype - - - - - - - - 90321 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90321 - Cockayne syndrome type 1 - - Clinical subtype - - - - - - - - 90322 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90322 - Cockayne syndrome type 2 - - Clinical subtype - - - - - - - - 90324 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90324 - Cockayne syndrome type 3 - - Clinical subtype - - - - - - - - - - 902 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=902 - Werner syndrome - - Disease - - - - - - - - 2047 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2047 - Flynn-Aird syndrome - - Disease - - - - - - - - 2108 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2108 - Hallermann-Streiff syndrome - - Malformation syndrome - - - - - - - - 2500 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2500 - Acrogeria - - Malformation syndrome - - - - - - - - 740 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=740 - Hutchinson-Gilford progeria syndrome - - Disease - - - - - - - - 2959 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2959 - Progeria-short stature-pigmented nevi syndrome - - Malformation syndrome - - - - - - - - 2962 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2962 - De Barsy syndrome - - Disease - - - - - - 35664 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35664 - ALDH18A1-related De Barsy syndrome - - Etiological subtype - - - - - - - - 293633 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293633 - PYCR1-related De Barsy syndrome - - Etiological subtype - - - - - - - - - - 3455 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3455 - Wiedemann-Rautenstrauch syndrome - - Malformation syndrome - - - - - - - - 697101 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=697101 - Fontaine progeroid syndrome - - Disease - - - - - - 2963 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2963 - Progeroid syndrome, Petty type - - Clinical subtype - - - - - - - - 2095 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2095 - Gorlin-Chaudhry-Moss syndrome - - Clinical subtype - - - - - - - - - - 220295 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220295 - Xeroderma pigmentosum-Cockayne syndrome complex - - Disease - - - - - - - - 280576 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280576 - Nestor-Guillermo progeria syndrome - - Malformation syndrome - - - - - - - - 363618 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363618 - LMNA-related cardiocutaneous progeria syndrome - - Disease - - - - - - - - 363649 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363649 - Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome - - Disease - - - - - - - - 363665 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363665 - Acroosteolysis-keloid-like lesions-premature aging syndrome - - Disease - - - - - - - - 438134 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=438134 - PCNA-related progressive neurodegenerative photosensitivity syndrome - - Disease - - - - - - - - - - 183426 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183426 - Genetic epidermal disorder - - Category - - - - - - 2841 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2841 - Hailey-Hailey disease - - Disease - - - - - - - - 79357 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79357 - Hereditary palmoplantar keratoderma - - Category - - - - - - 307141 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=307141 - Diffuse palmoplantar keratoderma - - Category - - - - - - 307148 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=307148 - Isolated diffuse palmoplantar keratoderma - - Clinical group - - - - - - 98349 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98349 - Autosomal dominant isolated diffuse palmoplantar keratoderma - - Category - - - - - - 495 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=495 - Transgrediens et progrediens palmoplantar keratoderma - - Disease - - - - - - - - 2199 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2199 - Epidermolytic palmoplantar keratoderma - - Disease - - - - - - - - 2337 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2337 - Diffuse palmoplantar keratoderma, Bothnian type - - Disease - - - - - - - - 369999 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369999 - Diffuse palmoplantar keratoderma with painful fissures - - Disease - - - - - - - - 530838 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=530838 - KRT1-related diffuse nonepidermolytic keratoderma - - Disease - - - - - - - - - - 98356 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98356 - Autosomal recessive isolated diffuse palmoplantar keratoderma - - Category - - - - - - 87503 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=87503 - Mal de Meleda - - Disease - - - - - - - - 140966 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140966 - Palmoplantar keratoderma, Nagashima type - - Disease - - - - - - - - - - - - 307711 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=307711 - Disease with diffuse palmoplantar keratoderma as a major feature - - Category - - - - - - 98352 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98352 - Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature - - Category - - - - - - 477 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477 - KID syndrome - - Disease - - - - - - - - 189 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=189 - Hidrotic ectodermal dysplasia - - Disease - - - - - - - - 1010 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1010 - Autosomal dominant palmoplantar keratoderma and congenital alopecia - - Disease - - - - - - - - 2202 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2202 - Palmoplantar keratoderma-deafness syndrome - - Disease - - - - - - - - 2698 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2698 - Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome - - Disease - - - - - - - - 316 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=316 - Progressive symmetric erythrokeratodermia - - Disease - - - - - - - - 384 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=384 - Huriez syndrome - - Disease - - - - - - - - 69087 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69087 - Naegeli-Franceschetti-Jadassohn syndrome - - Disease - - - - - - - - 86918 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86918 - Diffuse palmoplantar keratoderma-acrocyanosis syndrome - - Disease - - - - - - - - 86919 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86919 - Keratosis palmaris et plantaris-clinodactyly syndrome - - Disease - - - - - - - - 86920 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86920 - Dermatopathia pigmentosa reticularis - - Disease - - - - - - - - 307766 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=307766 - Curly hair-acral keratoderma-caries syndrome - - Disease - - - - - - - - 307773 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=307773 - Autosomal dominant diffuse mutilating palmoplantar keratoderma - - Clinical group - - - - - - 494 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=494 - Keratoderma hereditarium mutilans - - Disease - - - - - - - - 659 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=659 - Mutilating palmoplantar keratoderma with periorificial keratotic plaques - - Disease - - - - - - - - 79395 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79395 - Keratoderma hereditarium mutilans with ichthyosis - - Disease - - - - - - - - 281201 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=281201 - Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome - - Disease - - - - - - - - - - 352662 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352662 - Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome - - Disease - - - - - - - - 538574 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=538574 - Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome - - Disease - - - - - - - - - - 307804 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=307804 - Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature - - Category - - - - - - 477 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477 - KID syndrome - - Disease - - - - - - - - 1366 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1366 - Autosomal recessive palmoplantar keratoderma and congenital alopecia - - Disease - - - - - - - - 2342 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2342 - Haim-Munk syndrome - - Disease - - - - - - - - 2721 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2721 - Odonto-onycho-dermal dysplasia - - Disease - - - - - - - - 678 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=678 - Papillon-Lefèvre syndrome - - Disease - - - - - - - - 34217 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=34217 - Naxos disease - - Disease - - - - - - - - 50944 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50944 - Schöpf-Schulz-Passarge syndrome - - Disease - - - - - - - - 85112 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85112 - Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome - - Disease - - - - - - - - 293165 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293165 - Skin fragility-woolly hair-palmoplantar keratoderma syndrome - - Disease - - - - - - - - 363523 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363523 - Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome - - Disease - - - - - - - - 447961 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447961 - Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome - - Disease - - - - - - - - 66631 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66631 - CEDNIK syndrome - - Disease - - - - - - - - - - - - - - 307837 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=307837 - Focal palmoplantar keratoderma - - Category - - - - - - 307846 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=307846 - Isolated focal palmoplantar keratoderma - - Clinical group - - - - - - 50942 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50942 - Striate palmoplantar keratoderma - - Disease - - - - - - - - 79141 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79141 - Hereditary painful callosities - - Disease - - - - - - - - 370002 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370002 - Focal palmoplantar keratoderma with joint keratoses - - Disease - - - - - - - - 402003 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=402003 - Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering - - Disease - - - - - - - - 448264 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=448264 - Isolated focal non-epidermolytic palmoplantar keratoderma - - Disease - - - - - - - - - - 307871 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=307871 - Disease with focal palmoplantar keratoderma as a major feature - - Category - - - - - - 98353 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98353 - Autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature - - Category - - - - - - 2198 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2198 - Palmoplantar keratoderma-esophageal carcinoma syndrome - - Disease - - - - - - - - 2200 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2200 - Focal palmoplantar and gingival keratoderma - - Disease - - - - - - - - 2309 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2309 - Pachyonychia congenita - - Disease - - - - - - - - 307936 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=307936 - Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome - - Disease - - - - - - - - - - 98357 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98357 - Autosomal recessive disease with focal palmoplantar keratoderma as a major feature - - Category - - - - - - 28378 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=28378 - Tyrosinemia type 2 - - Disease - - - - - - - - 65282 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65282 - Carvajal syndrome - - Disease - - - - - - - - 420686 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420686 - Woolly hair-palmoplantar keratoderma syndrome - - Disease - - - - - - - - 423454 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423454 - Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome - - Disease - - - - - - - - - - - - - - 307967 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=307967 - Punctate palmoplantar keratoderma - - Category - - - - - - 2338 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2338 - Isolated punctate palmoplantar keratoderma - - Clinical group - - - - - - 737 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=737 - Porokeratosis plantaris palmaris et disseminata - - Disease - - - - - - - - 79501 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79501 - Punctate palmoplantar keratoderma type 1 - - Disease - - - - - - - - 79502 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79502 - Punctate palmoplantar keratoderma type 2 - - Disease - - - - - - - - 307995 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=307995 - Marginal papular palmoplantar keratoderma - - Clinical group - - - - - - 38 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=38 - Acrokeratoelastoidosis of Costa - - Disease - - - - - - - - 308013 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308013 - Focal acral hyperkeratosis - - Disease - - - - - - - - - - 444138 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444138 - Peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome - - Disease - - - - - - - - - - 308023 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308023 - Disease with punctate palmoplantar keratoderma as a major feature - - Category - - - - - - 308031 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308031 - Autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature - - Category - - - - - - 1336 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1336 - Hyperkeratosis-hyperpigmentation syndrome - - Disease - - - - - - - - 2201 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2201 - Palmoplantar keratoderma-spastic paralysis syndrome - - Disease - - - - - - - - 324561 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324561 - Hypopigmentation-punctate palmoplantar keratoderma syndrome - - Disease - - - - - - - - - - 308041 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308041 - Autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature - - Category - - - - - - 2386 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2386 - Leukoencephalopathy-palmoplantar keratoderma syndrome - - Disease - - - - - - - - - - - - - - - - 79360 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79360 - Other genetic epidermal disease - - Category - - - - - - 482606 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=482606 - X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome - - Malformation syndrome - - - - - - - - 158687 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158687 - Lethal acantholytic erosive disorder - - Disease - - - - - - - - 218 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=218 - Darier disease - - Disease - - - - - - - - 1658 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1658 - Absence of fingerprints-congenital milia syndrome - - Disease - - - - - - - - 1867 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1867 - Hereditary bullous dystrophy, macular type - - Disease - - - - - - - - 2339 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2339 - Keratosis follicularis-dwarfism-cerebral atrophy syndrome - - Malformation syndrome - - - - - - - - 2388 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2388 - Choreoacanthocytosis - - Disease - - - - - - - - 409 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=409 - Hyperkeratosis lenticularis perstans - - Disease - - - - - - - - 498 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498 - Keratosis pilaris atrophicans - - Clinical group - - - - - - 2340 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2340 - Keratosis follicularis spinulosa decalvans - - Disease - - - - - - - - 3406 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3406 - Ulerythema ophryogenesis - - Disease - - - - - - - - 79100 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79100 - Atrophoderma vermiculata - - Disease - - - - - - - - - - 50943 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50943 - Keratolytic winter erythema - - Disease - - - - - - - - 85165 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85165 - Severe achondroplasia-developmental delay-acanthosis nigricans syndrome - - Disease - - - - - - - - 90301 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90301 - Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome - - Disease - - - - - - - - 247353 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247353 - Generalized pustular psoriasis - - Disease - - - - - - - - 294023 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294023 - Neonatal inflammatory skin and bowel disease - - Disease - - - - - - - - 369992 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369992 - Severe dermatitis-multiple allergies-metabolic wasting syndrome - - Disease - - - - - - - - 163927 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163927 - Pustulosis palmaris et plantaris - - Disease - - - - - - - - 163931 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163931 - Acrodermatitis continua of Hallopeau - - Disease - - - - - - - - - - 79361 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79361 - Inherited epidermolysis bullosa - - Category - - - - - - 303 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=303 - Dystrophic epidermolysis bullosa - - Clinical group - - - - - - 79408 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79408 - Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form - - Disease - - - - - - - - 79409 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79409 - Recessive dystrophic epidermolysis bullosa inversa - - Disease - - - - - - - - 595356 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=595356 - Localized dystrophic epidermolysis bullosa - - Disease - - - - - - 79410 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79410 - Localized dystrophic epidermolysis bullosa, pretibial form - - Clinical subtype - - - - - - - - 158673 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158673 - Localized dystrophic epidermolysis bullosa, acral form - - Clinical subtype - - - - - - - - 158676 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158676 - Localized dystrophic epidermolysis bullosa, nails only - - Clinical subtype - - - - - - - - - - 79411 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79411 - Self-improving dystrophic epidermolysis bullosa - - Disease - - - - - - - - 89842 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=89842 - Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form - - Disease - - - - - - - - 89843 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=89843 - Dystrophic epidermolysis bullosa pruriginosa - - Disease - - - - - - - - 231568 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231568 - Autosomal dominant generalized dystrophic epidermolysis bullosa - - Disease - - - - - - - - - - 304 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=304 - Epidermolysis bullosa simplex - - Clinical group - - - - - - 595346 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=595346 - Epidermolysis bullosa simplex without extracutaneous involvement - - Category - - - - - - 412181 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=412181 - Epidermolysis bullosa simplex due to BP230 deficiency - - Disease - - - - - - - - 412189 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=412189 - Epidermolysis bullosa simplex due to exophilin 5 deficiency - - Disease - - - - - - - - 79396 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79396 - Autosomal dominant generalized epidermolysis bullosa simplex, severe form - - Disease - - - - - - - - 79397 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79397 - Epidermolysis bullosa simplex with mottled pigmentation - - Disease - - - - - - - - 79399 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79399 - Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form - - Disease - - - - - - - - 79400 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79400 - Localized epidermolysis bullosa simplex - - Disease - - - - - - - - 79401 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79401 - PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement - - Disease - - - - - - - - 89838 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=89838 - Autosomal recessive generalized epidermolysis bullosa simplex - - Disease - - - - - - - - 158681 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158681 - Epidermolysis bullosa simplex with circinate migratory erythema - - Disease - - - - - - - - - - 595351 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=595351 - Epidermolysis bullosa simplex with extracutaneous involvement - - Category - - - - - - 508529 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508529 - Intermediate epidermolysis bullosa simplex with cardiomyopathy - - Disease - - - - - - - - 2325 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2325 - Epidermolysis bullosa simplex with anodontia/hypodontia - - Malformation syndrome - - - - - - - - 257 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=257 - Epidermolysis bullosa simplex with muscular dystrophy - - Disease - - - - - - - - 158684 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158684 - Epidermolysis bullosa simplex with pyloric atresia - - Disease - - - - - - - - 300333 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300333 - Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome - - Disease - - - - - - - - - - - - 2908 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2908 - Kindler epidermolysis bullosa - - Disease - - - - - - - - 305 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=305 - Junctional epidermolysis bullosa - - Clinical group - - - - - - 2407 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2407 - Laryngo-onycho-cutaneous syndrome - - Disease - - - - - - - - 79403 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79403 - Junctional epidermolysis bullosa with pyloric atresia - - Disease - - - - - - - - 79404 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79404 - Severe generalized junctional epidermolysis bullosa - - Disease - - - - - - - - 79405 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79405 - Junctional epidermolysis bullosa inversa - - Disease - - - - - - - - 79406 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79406 - Late-onset junctional epidermolysis bullosa - - Disease - - - - - - - - 251393 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251393 - Localized junctional epidermolysis bullosa - - Disease - - - - - - - - 231556 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231556 - Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome - - Disease - - - - - - - - 306504 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306504 - Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome - - Disease - - - - - - - - 79402 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79402 - Intermediate generalized junctional epidermolysis bullosa - - Disease - - - - - - - - - - - - 168606 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168606 - Seborrhea-like dermatitis with psoriasiform elements - - Disease - - - - - - - - 183435 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183435 - Inherited ichthyosis - - Category - - - - - - 281082 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=281082 - Inherited non-syndromic ichthyosis - - Category - - - - - - 461 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=461 - Recessive X-linked ichthyosis - - Disease - - - - - - - - 317 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=317 - Erythrokeratodermia variabilis - - Disease - - - - - - - - 817 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=817 - Peeling skin syndrome - - Clinical group - - - - - - 263534 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263534 - Acral peeling skin syndrome - - Disease - - - - - - - - 263543 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263543 - Generalized peeling skin syndrome - - Disease - - - - - - 263553 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263553 - Peeling skin syndrome type B - - Clinical subtype - - - - - - - - 263548 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263548 - Peeling skin syndrome type A - - Clinical subtype - - - - - - - - - - - - 79395 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79395 - Keratoderma hereditarium mutilans with ichthyosis - - Disease - - - - - - - - 281097 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=281097 - Autosomal recessive congenital ichthyosis - - Clinical group - - - - - - 313 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313 - Lamellar ichthyosis - - Disease - - - - - - - - 457 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457 - Harlequin ichthyosis - - Disease - - - - - - - - 79394 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79394 - Congenital ichthyosiform erythroderma - - Disease - - - - - - - - 100976 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100976 - Bathing suit ichthyosis - - Disease - - - - - - - - 281122 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=281122 - Self-improving collodion baby - - Disease - - - - - - - - 281127 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=281127 - Acral self-healing collodion baby - - Disease - - - - - - - - 289586 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289586 - Exfoliative ichthyosis - - Disease - - - - - - - - - - 281103 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=281103 - Keratinopathic ichthyosis - - Clinical group - - - - - - 281190 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=281190 - Congenital reticular ichthyosiform erythroderma - - Disease - - - - - - - - 312 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=312 - Autosomal dominant epidermolytic ichthyosis - - Disease - - - - - - - - 455 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=455 - Superficial epidermolytic ichthyosis - - Disease - - - - - - - - 79503 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79503 - Ichthyosis hystrix of Curth-Macklin - - Disease - - - - - - - - 281139 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=281139 - Annular epidermolytic ichthyosis - - Disease - - - - - - - - 512103 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=512103 - Autosomal recessive epidermolytic ichthyosis - - Disease - - - - - - - - 497737 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=497737 - Epidermolytic nevus - - Disease - - - - - - - - - - 281201 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=281201 - Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome - - Disease - - - - - - - - 444138 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444138 - Peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome - - Disease - - - - - - - - - - 281085 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=281085 - Inherited ichthyosis syndromic form - - Category - - - - - - 281210 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=281210 - X-linked ichthyosis syndrome - - Clinical group - - - - - - 139 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139 - CHILD syndrome - - Disease - - - - - - - - 2273 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2273 - Ichthyosis follicularis-alopecia-photophobia syndrome - - Disease - - - - - - - - 35173 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35173 - X-linked dominant chondrodysplasia punctata - - Disease - - - - - - - - 281090 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=281090 - Syndromic recessive X-linked ichthyosis - - Disease - - - - - - - - - - 281217 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=281217 - Autosomal ichthyosis syndrome - - Category - - - - - - 281222 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=281222 - Autosomal ichthyosis syndrome with prominent hair abnormalities - - Category - - - - - - 634 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=634 - Netherton syndrome - - Disease - - - - - - - - 59303 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=59303 - Neonatal ichthyosis-sclerosing cholangitis syndrome - - Disease - - - - - - - - 91132 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91132 - Ichthyosis-hypotrichosis syndrome - - Disease - - - - - - - - 33364 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33364 - Trichothiodystrophy - - Disease - - - - - - - - - - 281238 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=281238 - Autosomal ichthyosis syndrome with prominent neurologic signs - - Category - - - - - - 773 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=773 - Refsum disease - - Disease - - - - - - - - 816 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=816 - Sjögren-Larsson syndrome - - Disease - - - - - - - - 2269 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2269 - Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome - - Disease - - - - - - - - 2271 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2271 - Congenital ichthyosis-microcephalus-tetraplegia syndrome - - Disease - - - - - - - - 2671 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2671 - Neu-Laxova syndrome - - Malformation syndrome - - - - - - 583602 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=583602 - Neu-Laxova syndrome due to phosphoserine aminotransferase deficiency - - Etiological subtype - - - - - - - - 583607 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=583607 - Neu-Laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency - - Etiological subtype - - - - - - - - 583612 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=583612 - Neu-Laxova syndrome due to 3-phosphoserine phosphatase deficiency - - Etiological subtype - - - - - - - - - - 171851 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171851 - MEDNIK syndrome - - Disease - - - - - - - - 352333 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352333 - Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome - - Disease - - - - - - - - - - 281241 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=281241 - Autosomal ichthyosis syndrome with fatal disease course - - Category - - - - - - 585 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=585 - Multiple sulfatase deficiency - - Disease - - - - - - - - 2697 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2697 - Arthrogryposis-renal dysfunction-cholestasis syndrome - - Malformation syndrome - - - - - - - - 66631 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66631 - CEDNIK syndrome - - Disease - - - - - - - - 85212 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85212 - Fetal Gaucher disease - - Clinical subtype - - - - - - - - 2671 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2671 - Neu-Laxova syndrome - - Malformation syndrome - - - - - - 583602 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=583602 - Neu-Laxova syndrome due to phosphoserine aminotransferase deficiency - - Etiological subtype - - - - - - - - 583607 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=583607 - Neu-Laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency - - Etiological subtype - - - - - - - - 583612 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=583612 - Neu-Laxova syndrome due to 3-phosphoserine phosphatase deficiency - - Etiological subtype - - - - - - - - - - - - 281244 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=281244 - Autosomal ichthyosis syndrome with other associated signs - - Category - - - - - - 477 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477 - KID syndrome - - Disease - - - - - - - - 3151 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3151 - Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome - - Disease - - - - - - - - 2272 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2272 - Ichthyosis-oral and digital anomalies syndrome - - Malformation syndrome - - - - - - - - 2274 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2274 - Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome - - Disease - - - - - - - - 2278 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2278 - Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome - - Malformation syndrome - - - - - - - - 75325 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75325 - Osteosclerosis-ichthyosis-premature ovarian failure syndrome - - Disease - - - - - - - - 3055 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3055 - X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome - - Malformation syndrome - - - - - - - - 88621 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88621 - Ichthyosis-prematurity syndrome - - Disease - - - - - - - - 91131 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91131 - DK1-CDG - - Disease - - - - - - - - 98907 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98907 - Neutral lipid storage disease with ichthyosis - - Disease - - - - - - - - 363992 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363992 - Ichthyosis-short stature-brachydactyly-microspherophakia syndrome - - Disease - - - - - - - - 404454 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404454 - Alacrimia-choreoathetosis-liver dysfunction syndrome - - Disease - - - - - - - - - - - - - - - - 183438 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183438 - Genetic erythrokeratoderma - - Category - - - - - - 2897 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2897 - Pityriasis rubra pilaris - - Disease - - - - - - - - 1955 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1955 - Spinocerebellar ataxia type 34 - - Disease - - - - - - - - 315 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=315 - Erythrokeratoderma ''en cocardes'' - - Disease - - - - - - - - 171851 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171851 - MEDNIK syndrome - - Disease - - - - - - - - 308166 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308166 - Erythrokeratoderma variabilis progressiva - - Clinical group - - - - - - 317 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=317 - Erythrokeratodermia variabilis - - Disease - - - - - - - - 316 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=316 - Progressive symmetric erythrokeratodermia - - Disease - - - - - - - - 330029 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=330029 - Hypotrichosis-deafness syndrome - - Disease - - - - - - - - - - 476096 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=476096 - Erythrokeratodermia-cardiomyopathy syndrome - - Disease - - - - - - - - - - 183441 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183441 - Genetic acrokeratoderma - - Category - - - - - - 3417 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3417 - Van den Bosch syndrome - - Malformation syndrome - - - - - - - - 38 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=38 - Acrokeratoelastoidosis of Costa - - Disease - - - - - - - - 79151 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79151 - Acrokeratosis verruciformis of Hopf - - Disease - - - - - - - - 99710 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99710 - Punctate acrokeratoderma freckle-like pigmentation - - Disease - - - - - - - - - - 183444 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183444 - Genetic porokeratosis - - Category - - - - - - 735 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=735 - Porokeratosis of Mibelli - - Disease - - - - - - - - 737 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=737 - Porokeratosis plantaris palmaris et disseminata - - Disease - - - - - - - - 79152 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79152 - Disseminated superficial actinic porokeratosis - - Disease - - - - - - - - - - 222628 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=222628 - Hereditary poikiloderma - - Category - - - - - - 1775 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1775 - Dyskeratosis congenita - - Disease - - - - - - - - 902 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=902 - Werner syndrome - - Disease - - - - - - - - 2909 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2909 - Rothmund-Thomson syndrome - - Disease - - - - - - 221008 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221008 - Rothmund-Thomson syndrome type 1 - - Clinical subtype - - - - - - - - 221016 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221016 - Rothmund-Thomson syndrome type 2 - - Clinical subtype - - - - - - - - - - 221039 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221039 - Hereditary sclerosing poikiloderma, Weary type - - Disease - - - - - - - - 221043 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221043 - Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome - - Disease - - - - - - - - 221046 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221046 - Poikiloderma with neutropenia - - Disease - - - - - - - - 2907 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2907 - Hereditary acrokeratotic poikiloderma - - Disease - - - - - - - - - - 488168 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488168 - Microcephaly-congenital cataract-psoriasiform dermatitis syndrome - - Malformation syndrome - - - - - - - - - - 183447 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183447 - Genetic epidermal appendage anomaly - - Category - - - - - - 79373 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79373 - Ectodermal dysplasia syndrome - - Category - - - - - - 3200 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3200 - Arthrogryposis-ectodermal dysplasia syndrome - - Malformation syndrome - - - - - - - - 289 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289 - Ellis Van Creveld syndrome - - Malformation syndrome - - - - - - - - 464 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464 - Incontinentia pigmenti - - Malformation syndrome - - - - - - - - 235 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=235 - Dubowitz syndrome - - Malformation syndrome - - - - - - - - 1775 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1775 - Dyskeratosis congenita - - Disease - - - - - - - - 477 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477 - KID syndrome - - Disease - - - - - - - - 560 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=560 - Marshall syndrome - - Malformation syndrome - - - - - - - - 189 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=189 - Hidrotic ectodermal dysplasia - - Disease - - - - - - - - 1946 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1946 - Amelocerebrohypohidrotic syndrome - - Malformation syndrome - - - - - - - - 952 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=952 - Acrofacial dysostosis, Weyers type - - Malformation syndrome - - - - - - - - 1005 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1005 - Alopecia-contractures-dwarfism-intellectual disability syndrome - - Malformation syndrome - - - - - - - - 1010 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1010 - Autosomal dominant palmoplantar keratoderma and congenital alopecia - - Disease - - - - - - - - 1028 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1028 - Amelo-onycho-hypohidrotic syndrome - - Malformation syndrome - - - - - - - - 1071 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1071 - Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome - - Malformation syndrome - - - - - - 1072 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1072 - Ankyloblepharon filiforme adnatum-cleft palate syndrome - - Clinical subtype - - - - - - - - 1074 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1074 - Ankyloblepharon filiforme adnatum-imperforate anus syndrome - - Clinical subtype - - - - - - - - - - 1133 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1133 - AREDYLD syndrome - - Malformation syndrome - - - - - - - - 1174 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1174 - Cerebellar ataxia-ectodermal dysplasia syndrome - - Malformation syndrome - - - - - - - - 1234 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1234 - Bartsocas-Papas syndrome - - Malformation syndrome - - - - - - - - 1262 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1262 - Böök syndrome - - Malformation syndrome - - - - - - - - 1264 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1264 - Tricho-retino-dento-digital syndrome - - Malformation syndrome - - - - - - - - 1340 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1340 - Cardiofaciocutaneous syndrome - - Malformation syndrome - - - - - - - - 1366 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1366 - Autosomal recessive palmoplantar keratoderma and congenital alopecia - - Disease - - - - - - - - 1375 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1375 - Cataract-hypertrichosis-intellectual disability syndrome - - Malformation syndrome - - - - - - - - 1433 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1433 - Choroidal atrophy-alopecia syndrome - - Malformation syndrome - - - - - - - - 1484 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1484 - Contractures-ectodermal dysplasia-cleft lip/palate syndrome - - Malformation syndrome - - - - - - - - 1515 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1515 - Cranioectodermal dysplasia - - Malformation syndrome - - - - - - - - 1563 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1563 - Dahlberg-Borer-Newcomer syndrome - - Malformation syndrome - - - - - - - - 1573 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1573 - Hypotrichosis with juvenile macular degeneration - - Malformation syndrome - - - - - - - - 1657 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1657 - Dermatoosteolysis, Kirghizian type - - Malformation syndrome - - - - - - - - 1660 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1660 - Dermoodontodysplasia - - Malformation syndrome - - - - - - - - 1231 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1231 - Barber-Say syndrome - - Malformation syndrome - - - - - - - - 2251 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2251 - Thumb deformity-alopecia-pigmentation anomaly syndrome - - Malformation syndrome - - - - - - - - 1806 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1806 - Ectodermal dysplasia-blindness syndrome - - Malformation syndrome - - - - - - - - 1808 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1808 - Hidrotic ectodermal dysplasia, Christianson-Fourie type - - Malformation syndrome - - - - - - - - 1809 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1809 - Hidrotic ectodermal dysplasia, Halal type - - Malformation syndrome - - - - - - - - 1812 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1812 - Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome - - Malformation syndrome - - - - - - - - 1882 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1882 - Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome - - Malformation syndrome - - - - - - - - 1883 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1883 - Ectodermal dysplasia-sensorineural deafness syndrome - - Malformation syndrome - - - - - - - - 1816 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1816 - Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome - - Malformation syndrome - - - - - - - - 1818 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1818 - Ectodermal dysplasia, trichoodontoonychial type - - Malformation syndrome - - - - - - - - 1897 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1897 - EEM syndrome - - Malformation syndrome - - - - - - - - 1997 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1997 - Blepharo-cheilo-odontic syndrome - - Malformation syndrome - - - - - - - - 2026 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2026 - Gingival fibromatosis-hypertrichosis syndrome - - Malformation syndrome - - - - - - - - 2036 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2036 - Scalp-ear-nipple syndrome - - Malformation syndrome - - - - - - - - 2067 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2067 - GAPO syndrome - - Malformation syndrome - - - - - - - - 2092 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2092 - Focal dermal hypoplasia - - Malformation syndrome - - - - - - - - 2108 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2108 - Hallermann-Streiff syndrome - - Malformation syndrome - - - - - - - - 2220 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2220 - Hypertrichosis cubiti - - Malformation syndrome - - - - - - - - 2222 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2222 - Hypertrichosis lanuginosa congenita - - Disease - - - - - - 1023 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1023 - Congenital generalized hypertrichosis, Ambras type - - Clinical subtype - - - - - - - - 79495 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79495 - X-linked congenital generalized hypertrichosis - - Clinical subtype - - - - - - - - - - 2228 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2228 - Hypodontia-dysplasia of nails syndrome - - Malformation syndrome - - - - - - - - 2269 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2269 - Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome - - Disease - - - - - - - - 2315 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2315 - Johanson-Blizzard syndrome - - Malformation syndrome - - - - - - - - 2316 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2316 - Johnson neuroectodermal syndrome - - Malformation syndrome - - - - - - - - 2561 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2561 - Pyramidal molars-abnormal upper lip syndrome - - Malformation syndrome - - - - - - - - 2710 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2710 - Oculodentodigital dysplasia - - Malformation syndrome - - - - - - - - 2713 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2713 - Oculoosteocutaneous syndrome - - Malformation syndrome - - - - - - - - 2718 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2718 - Oculotrichodysplasia - - Malformation syndrome - - - - - - - - 2721 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2721 - Odonto-onycho-dermal dysplasia - - Disease - - - - - - - - 2722 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2722 - Odonto-onycho dysplasia-alopecia syndrome - - Malformation syndrome - - - - - - - - 2723 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2723 - Odontotrichomelic syndrome - - Malformation syndrome - - - - - - - - 2750 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2750 - Orofaciodigital syndrome type 1 - - Malformation syndrome - - - - - - - - 678 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=678 - Papillon-Lefèvre syndrome - - Disease - - - - - - - - 2890 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2890 - Pili torti-onychodysplasia syndrome - - Malformation syndrome - - - - - - - - 2892 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2892 - Pilodental dysplasia-refractive errors syndrome - - Malformation syndrome - - - - - - - - 3194 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3194 - Corneodermatoosseous syndrome - - Malformation syndrome - - - - - - - - 3220 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3220 - Deafness-enamel hypoplasia-nail defects syndrome - - Malformation syndrome - - - - - - - - 3231 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3231 - Deafness-onychodystrophy syndrome - - Clinical group - - - - - - 79499 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79499 - Autosomal dominant deafness-onychodystrophy syndrome - - Malformation syndrome - - - - - - - - 79500 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79500 - DOORS syndrome - - Malformation syndrome - - - - - - - - - - 3236 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3236 - Conductive deafness-ptosis-skeletal anomalies syndrome - - Malformation syndrome - - - - - - - - 3291 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3291 - Teebi-Shaltout syndrome - - Malformation syndrome - - - - - - - - 3339 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3339 - Oculoectodermal syndrome - - Malformation syndrome - - - - - - - - 3351 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3351 - Trichodental syndrome - - Malformation syndrome - - - - - - - - 3352 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3352 - Tricho-dento-osseous syndrome - - Malformation syndrome - - - - - - - - 3353 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3353 - Trichodermodysplasia-dental alterations syndrome - - Malformation syndrome - - - - - - - - 3355 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3355 - Trichoodontoonychial dysplasia - - Malformation syndrome - - - - - - - - 3363 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3363 - Trichomegaly-retina pigmentary degeneration-dwarfism syndrome - - Malformation syndrome - - - - - - - - 3474 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3474 - CHIME syndrome - - Malformation syndrome - - - - - - - - 175 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=175 - Cartilage-hair hypoplasia - - Disease - - - - - - - - 33364 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33364 - Trichothiodystrophy - - Disease - - - - - - - - 50944 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50944 - Schöpf-Schulz-Passarge syndrome - - Disease - - - - - - - - 65282 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65282 - Carvajal syndrome - - Disease - - - - - - - - 69082 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69082 - Odonto-tricho-ungual-digito-palmar syndrome - - Malformation syndrome - - - - - - - - 69083 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69083 - Ectodermal dysplasia with natal teeth, Turnpenny type - - Malformation syndrome - - - - - - - - 69084 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69084 - Pure hair and nail ectodermal dysplasia - - Malformation syndrome - - - - - - - - 69087 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69087 - Naegeli-Franceschetti-Jadassohn syndrome - - Disease - - - - - - - - 69088 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69088 - Hypohidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome - - Disease - - - - - - - - 69125 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69125 - Anonychia with flexural pigmentation - - Malformation syndrome - - - - - - - - 79129 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79129 - Trichodysplasia-amelogenesis imperfecta syndrome - - Malformation syndrome - - - - - - - - 86920 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86920 - Dermatopathia pigmentosa reticularis - - Disease - - - - - - - - 98609 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98609 - EEC syndrome and related disorders - - Category - - - - - - 978 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=978 - ADULT syndrome - - Malformation syndrome - - - - - - - - 1896 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1896 - EEC syndrome - - Malformation syndrome - - - - - - - - 2363 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2363 - Lacrimoauriculodentodigital syndrome - - Malformation syndrome - - - - - - - - 69085 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69085 - Limb-mammary syndrome - - Malformation syndrome - - - - - - - - - - 99672 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99672 - Fried's tooth and nail syndrome - - Malformation syndrome - - - - - - - - 99688 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99688 - Dermotrichic syndrome - - Malformation syndrome - - - - - - - - 140936 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140936 - Lelis syndrome - - Malformation syndrome - - - - - - - - 158668 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158668 - Ectodermal dysplasia-skin fragility syndrome - - Disease - - - - - - - - 238468 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238468 - Hypohidrotic ectodermal dysplasia - - Disease - - - - - - 181 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=181 - X-linked hypohidrotic ectodermal dysplasia - - Etiological subtype - - - - - - - - 248 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=248 - Autosomal recessive hypohidrotic ectodermal dysplasia - - Etiological subtype - - - - - - - - 1810 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1810 - Autosomal dominant hypohidrotic ectodermal dysplasia - - Etiological subtype - - - - - - - - - - 247820 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247820 - Ectodermal dysplasia-pili torti-cutaneous syndactyly syndrome - - Malformation syndrome - - - - - - - - 247827 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247827 - Ectodermal dysplasia-hyperhidrosis-cutaneous syndactyly syndrome - - Malformation syndrome - - - - - - - - 307766 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=307766 - Curly hair-acral keratoderma-caries syndrome - - Disease - - - - - - - - 307936 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=307936 - Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome - - Disease - - - - - - - - 319195 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319195 - Chondroectodermal dysplasia with night blindness - - Disease - - - - - - - - 3253 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3253 - Cleft lip/palate-ectodermal dysplasia syndrome - - Malformation syndrome - - - - - - - - 324764 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324764 - Trichorhinophalangeal syndrome - - Clinical group - - - - - - 502 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=502 - Trichorhinophalangeal syndrome type 2 - - Malformation syndrome - - - - - - - - 77258 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77258 - Trichorhinophalangeal syndrome type 1 - - Malformation syndrome - - - - - - - - - - 398166 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398166 - Focal facial dermal dysplasia - - Malformation syndrome - - - - - - 1807 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1807 - Focal facial dermal dysplasia type III - - Clinical subtype - - - - - - - - 79133 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79133 - Focal facial dermal dysplasia type I - - Clinical subtype - - - - - - - - 398173 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398173 - Focal facial dermal dysplasia type II - - Clinical subtype - - - - - - - - 398189 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398189 - Focal facial dermal dysplasia type IV - - Clinical subtype - - - - - - - - - - 423454 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423454 - Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome - - Disease - - - - - - - - 1401 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1401 - CHAND syndrome - - Malformation syndrome - - - - - - - - 2109 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2109 - Hallermann-Streiff-like syndrome - - Malformation syndrome - - - - - - - - 293165 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293165 - Skin fragility-woolly hair-palmoplantar keratoderma syndrome - - Disease - - - - - - - - 2266 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2266 - Hypotrichosis-intellectual disability, Lopes type - - Disease - - - - - - - - 447961 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447961 - Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome - - Disease - - - - - - - - 685067 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=685067 - Hypodontia-scalp hypotrichosis-facial dysmorphism syndrome - - Disease - - - - - - - - 589608 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589608 - Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies - - Disease - - - - - - - - 98813 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98813 - Hypohidrotic ectodermal dysplasia with immunodeficiency - - Disease - - - - - - - - - - 183450 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183450 - Genetic hair anomaly - - Category - - - - - - 481771 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=481771 - Genetic alopecia - - Category - - - - - - 1008 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1008 - Alopecia-epilepsy-pyorrhea-intellectual disability syndrome - - Disease - - - - - - - - 701 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=701 - Alopecia universalis - - Disease - - - - - - - - 1014 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1014 - Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome - - Disease - - - - - - - - 2273 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2273 - Ichthyosis follicularis-alopecia-photophobia syndrome - - Disease - - - - - - - - 2701 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2701 - Noonan syndrome-like disorder with loose anagen hair - - Malformation syndrome - - - - - - - - 2850 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2850 - Alopecia-intellectual disability syndrome - - Disease - - - - - - - - 168 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168 - Loose anagen syndrome - - Disease - - - - - - - - 444 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444 - Marie Unna hereditary hypotrichosis - - Disease - - - - - - - - 55654 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=55654 - Hypotrichosis simplex - - Disease - - - - - - - - 86819 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86819 - Atrichia with papular lesions - - Disease - - - - - - - - 90368 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90368 - Hypotrichosis simplex of the scalp - - Disease - - - - - - - - 157954 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157954 - ANE syndrome - - Disease - - - - - - - - 217407 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217407 - Hereditary hypotrichosis with recurrent skin vesicles - - Disease - - - - - - - - 228390 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228390 - Frontonasal dysplasia-alopecia-genital anomalies syndrome - - Malformation syndrome - - - - - - - - 330029 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=330029 - Hypotrichosis-deafness syndrome - - Disease - - - - - - - - 443995 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443995 - Mandibulofacial dysostosis with alopecia - - Malformation syndrome - - - - - - - - 447961 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447961 - Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome - - Disease - - - - - - - - 91132 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91132 - Ichthyosis-hypotrichosis syndrome - - Disease - - - - - - - - - - 79365 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79365 - Rare disorder with hypertrichosis - - Category - - - - - - 1021 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1021 - Amaurosis-hypertrichosis syndrome - - Disease - - - - - - - - 508 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508 - Donohue syndrome - - Malformation syndrome - - - - - - - - 1231 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1231 - Barber-Say syndrome - - Malformation syndrome - - - - - - - - 1375 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1375 - Cataract-hypertrichosis-intellectual disability syndrome - - Malformation syndrome - - - - - - - - 2026 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2026 - Gingival fibromatosis-hypertrichosis syndrome - - Malformation syndrome - - - - - - - - 2218 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2218 - Cervical hypertrichosis-peripheral neuropathy syndrome - - Disease - - - - - - - - 2220 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2220 - Hypertrichosis cubiti - - Malformation syndrome - - - - - - - - 2222 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2222 - Hypertrichosis lanuginosa congenita - - Disease - - - - - - 1023 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1023 - Congenital generalized hypertrichosis, Ambras type - - Clinical subtype - - - - - - - - 79495 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79495 - X-linked congenital generalized hypertrichosis - - Clinical subtype - - - - - - - - - - 769 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=769 - Rabson-Mendenhall syndrome - - Malformation syndrome - - - - - - - - 3387 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3387 - Isolated anterior cervical hypertrichosis - - Disease - - - - - - - - 476119 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=476119 - Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome - - Malformation syndrome - - - - - - - - 694946 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=694946 - Alazami-Yuan syndrome - - Malformation syndrome - - - - - - - - 598603 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=598603 - Facial dysmorphism-hypertrichosis-epilepsy-intellectual disability/developmental delay-gingival overgrowth syndrome - - Malformation syndrome - - - - - - - - - - 79366 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79366 - Isolated hair shaft abnormality - - Category - - - - - - 1410 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1410 - Uncombable hair syndrome - - Disease - - - - - - - - 2889 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2889 - Pili torti - - Disease - - - - - - - - 169 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169 - Ringed hair disease - - Disease - - - - - - - - 170 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=170 - Woolly hair - - Disease - - - - - - - - 573 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=573 - Monilethrix - - Disease - - - - - - - - 720 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=720 - Pili bifurcati - - Disease - - - - - - - - 79414 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79414 - Woolly hair nevus - - Disease - - - - - - - - 79492 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79492 - Pili gemini - - Disease - - - - - - - - - - 79367 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79367 - Syndromic hair shaft abnormality - - Category - - - - - - 123 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=123 - Björnstad syndrome - - Disease - - - - - - - - 565 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=565 - Menkes disease - - Disease - - - - - - - - 2891 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2891 - Pili torti-developmental delay-neurological abnormalities syndrome - - Malformation syndrome - - - - - - - - 3351 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3351 - Trichodental syndrome - - Malformation syndrome - - - - - - - - 3352 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3352 - Tricho-dento-osseous syndrome - - Malformation syndrome - - - - - - - - 3361 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3361 - Trichodysplasia-xeroderma syndrome - - Malformation syndrome - - - - - - - - 33364 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33364 - Trichothiodystrophy - - Disease - - - - - - - - 434809 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=434809 - Syndrome with woolly hair - - Category - - - - - - 34217 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=34217 - Naxos disease - - Disease - - - - - - - - 65282 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65282 - Carvajal syndrome - - Disease - - - - - - - - 293165 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293165 - Skin fragility-woolly hair-palmoplantar keratoderma syndrome - - Disease - - - - - - - - 420686 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420686 - Woolly hair-palmoplantar keratoderma syndrome - - Disease - - - - - - - - - - - - 411788 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411788 - Familial isolated trichomegaly - - Disease - - - - - - - - - - 183454 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183454 - Genetic nail anomaly - - Category - - - - - - 79369 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79369 - Isolated nail anomaly - - Category - - - - - - 2387 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2387 - Leukonychia totalis - - Disease - - - - - - - - 79143 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79143 - Isolated congenital anonychia - - Disease - - - - - - 90390 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90390 - Anonychia-onychodystrophy syndrome - - Clinical subtype - - - - - - - - 94150 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94150 - Anonychia congenita totalis - - Clinical subtype - - - - - - - - - - 79153 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79153 - Idiopathic trachyonychia - - Disease - - - - - - - - 217059 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217059 - Isolated nail clubbing - - Morphological anomaly - - - - - - - - 280654 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280654 - Autosomal recessive nail dysplasia - - Disease - - - - - - - - - - 79370 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79370 - Syndromic nail anomaly - - Category - - - - - - 488232 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488232 - Split-foot malformation-mesoaxial polydactyly syndrome - - Malformation syndrome - - - - - - - - 2793 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2793 - Otoonychoperoneal syndrome - - Malformation syndrome - - - - - - - - 2614 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2614 - Nail-patella syndrome - - Malformation syndrome - - - - - - - - 1487 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1487 - Cooks syndrome - - Malformation syndrome - - - - - - - - 1811 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1811 - Odontomicronychial dysplasia - - Malformation syndrome - - - - - - - - 2045 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2045 - FLOTCH syndrome - - Disease - - - - - - - - 2309 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2309 - Pachyonychia congenita - - Disease - - - - - - - - 3231 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3231 - Deafness-onychodystrophy syndrome - - Clinical group - - - - - - 79499 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79499 - Autosomal dominant deafness-onychodystrophy syndrome - - Malformation syndrome - - - - - - - - 79500 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79500 - DOORS syndrome - - Malformation syndrome - - - - - - - - - - 69125 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69125 - Anonychia with flexural pigmentation - - Malformation syndrome - - - - - - - - 210133 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210133 - Leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome - - Disease - - - - - - - - 330029 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=330029 - Hypotrichosis-deafness syndrome - - Disease - - - - - - - - 420561 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420561 - Temple-Baraitser syndrome - - Disease - - - - - - - - 2153 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2153 - Hirschsprung disease-nail hypoplasia-dysmorphism syndrome - - Malformation syndrome - - - - - - - - 2835 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2835 - Pectus excavatum-macrocephaly-dysplastic nails syndrome - - Malformation syndrome - - - - - - - - 495818 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=495818 - 9q33.3q34.11 microdeletion syndrome - - Malformation syndrome - - - - - - - - 697356 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=697356 - Congenital scalp aplasia cutis-enamel hypoplasia-developmental delay-intellectual disability syndrome - - Malformation syndrome - - - - - - - - - - - - 183460 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183460 - Genetic sebaceous gland anomaly - - Category - - - - - - 2750 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2750 - Orofaciodigital syndrome type 1 - - Malformation syndrome - - - - - - - - 3184 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3184 - Steatocystoma multiplex-natal teeth syndrome - - Malformation syndrome - - - - - - - - 841 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=841 - Sebocystomatosis - - Disease - - - - - - - - - - 542657 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=542657 - Isolated hyperchlorhidrosis - - Disease - - - - - - - - - - 183463 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183463 - Genetic pigmentation anomaly of the skin - - Category - - - - - - 2435 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2435 - Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome - - Disease - - - - - - - - 183466 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183466 - Genetic hyperpigmentation of the skin - - Category - - - - - - 636 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=636 - Neurofibromatosis type 1 - - Disease - - - - - - 97685 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97685 - 17q11 microdeletion syndrome - - Clinical subtype - - - - - - - - 363700 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363700 - Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion - - Etiological subtype - - - - - - - - - - 2869 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2869 - Peutz-Jeghers syndrome - - Disease - - - - - - - - 562 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=562 - McCune-Albright syndrome - - Disease - - - - - - - - 1775 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1775 - Dyskeratosis congenita - - Disease - - - - - - - - 84 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=84 - Fanconi anemia - - Malformation syndrome - - - - - - - - 638 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=638 - Neurofibromatosis-Noonan syndrome - - Malformation syndrome - - - - - - - - 500 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500 - Noonan syndrome with multiple lentigines - - Malformation syndrome - - - - - - - - 1336 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1336 - Hyperkeratosis-hyperpigmentation syndrome - - Disease - - - - - - - - 2069 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2069 - Gastrocutaneous syndrome - - Disease - - - - - - - - 2574 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2574 - Moynahan syndrome - - Malformation syndrome - - - - - - - - 1359 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1359 - Carney complex - - Disease - - - - - - - - 2678 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2678 - Familial isolated café-au-lait macules - - Malformation syndrome - - - - - - - - 2779 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2779 - Osteopathia striata-pigmentary dermopathy-white forelock syndrome - - Malformation syndrome - - - - - - - - 2875 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2875 - Phakomatosis pigmentovascularis - - Disease - - - - - - 79483 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79483 - Phakomatosis cesioflammea - - Clinical subtype - - - - - - - - 79484 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79484 - Phakomatosis cesiomarmorata - - Clinical subtype - - - - - - - - 79485 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79485 - Phakomatosis spilorosea - - Clinical subtype - - - - - - - - - - 41 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=41 - Dyschromatosis symmetrica hereditaria - - Disease - - - - - - - - 241 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=241 - Dyschromatosis universalis hereditaria - - Disease - - - - - - - - 33445 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33445 - Neuroectodermal melanolysosomal disease - - Malformation syndrome - - - - - - - - 69087 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69087 - Naegeli-Franceschetti-Jadassohn syndrome - - Disease - - - - - - - - 79145 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79145 - Dowling-Degos disease - - Disease - - - - - - - - 79146 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79146 - Familial progressive hyperpigmentation - - Disease - - - - - - - - 79150 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79150 - Linear and whorled nevoid hypermelanosis - - Disease - - - - - - - - 85453 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85453 - X-linked reticulate pigmentary disorder - - Disease - - - - - - - - 86920 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86920 - Dermatopathia pigmentosa reticularis - - Disease - - - - - - - - 88630 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88630 - Terminal osseous dysplasia-pigmentary defects syndrome - - Malformation syndrome - - - - - - - - 93921 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93921 - Full schwannomatosis - - Disease - - - - - - - - 137605 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137605 - Legius syndrome - - Malformation syndrome - - - - - - - - 168569 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168569 - H syndrome - - Malformation syndrome - - - - - - - - 178307 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178307 - Reticulate acropigmentation of Kitamura - - Disease - - - - - - - - 231040 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231040 - Familial generalized lentiginosis - - Disease - - - - - - - - 319340 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319340 - Carney complex-trismus-pseudocamptodactyly syndrome - - Disease - - - - - - - - 423454 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423454 - Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome - - Disease - - - - - - - - 488627 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488627 - Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome - - Malformation syndrome - - - - - - - - 508512 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508512 - Intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome - - Disease - - - - - - - - 634511 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=634511 - Mosaic Legius syndrome - - Disease - - - - - - - - 1964 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1964 - Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome - - Malformation syndrome - - - - - - - - - - 183469 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183469 - Genetic hypopigmentation of the skin - - Category - - - - - - 998 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=998 - Albinism-deafness syndrome - - Malformation syndrome - - - - - - - - 55 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=55 - Oculocutaneous albinism - - Clinical group - - - - - - 79432 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79432 - Oculocutaneous albinism type 2 - - Disease - - - - - - - - 79433 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79433 - Oculocutaneous albinism type 3 - - Disease - - - - - - - - 79435 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79435 - Oculocutaneous albinism type 4 - - Disease - - - - - - - - 352731 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352731 - Oculocutaneous albinism type 1 - - Disease - - - - - - 79431 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79431 - Oculocutaneous albinism type 1A - - Clinical subtype - - - - - - - - 79434 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79434 - Oculocutaneous albinism type 1B - - Clinical subtype - - - - - - - - 352734 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352734 - Minimal pigment oculocutaneous albinism type 1 - - Clinical subtype - - - - - - - - 352737 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352737 - Temperature-sensitive oculocutaneous albinism type 1 - - Clinical subtype - - - - - - - - - - 352745 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352745 - Oculocutaneous albinism type 7 - - Disease - - - - - - - - 370091 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370091 - Oculocutaneous albinism type 5 - - Disease - - - - - - - - 370097 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370097 - Oculocutaneous albinism type 6 - - Disease - - - - - - - - 597733 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=597733 - Oculocutaneous albinism type 8 - - Disease - - - - - - - - - - 3440 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3440 - Waardenburg syndrome - - Disease - - - - - - 894 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=894 - Waardenburg syndrome type 1 - - Clinical subtype - - - - - - - - 895 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=895 - Waardenburg syndrome type 2 - - Clinical subtype - - - - - - - - 896 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=896 - Waardenburg syndrome type 3 - - Clinical subtype - - - - - - - - - - 897 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=897 - Waardenburg-Shah syndrome - - Disease - - - - - - - - 1493 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1493 - Vici syndrome - - Malformation syndrome - - - - - - - - 2884 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2884 - Piebaldism - - Disease - - - - - - - - 2885 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2885 - Piebald trait-neurologic defects syndrome - - Malformation syndrome - - - - - - - - 3214 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3214 - Deaf blind hypopigmentation syndrome, Yemenite type - - Malformation syndrome - - - - - - - - 42665 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=42665 - Tietz syndrome - - Malformation syndrome - - - - - - - - 163746 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163746 - Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease - - Disease - - - - - - - - 284811 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284811 - Syndromic oculocutaneous albinism - - Category - - - - - - 603494 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=603494 - Coloboma-osteopetrosis-microphthalmia-macrocephaly-albinism-deafness syndrome - - Malformation syndrome - - - - - - - - 167 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=167 - Chédiak-Higashi syndrome - - Disease - - - - - - - - 381 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=381 - Griscelli syndrome - - Disease - - - - - - 79476 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79476 - Griscelli syndrome type 1 - - Clinical subtype - - - - - - - - 79477 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79477 - Griscelli syndrome type 2 - - Clinical subtype - - - - - - - - 79478 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79478 - Griscelli syndrome type 3 - - Clinical subtype - - - - - - - - - - 2719 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2719 - Oculocerebral hypopigmentation syndrome, Cross type - - Malformation syndrome - - - - - - - - 79430 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79430 - Hermansky-Pudlak syndrome - - Disease - - - - - - 183678 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183678 - Hermansky-Pudlak syndrome due to AP-3 deficiency - - Clinical subtype - - - - - - 664500 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=664500 - Hermansky-Pudlak syndrome due to AP3B1 deficiency - - Clinical subtype - - - - - - - - 664511 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=664511 - Early-onset severe Hermansky-Pudlak syndrome with hearing loss, due to AP3D1 deficiency - - Clinical subtype - - - - - - - - - - 231500 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231500 - Hermansky-Pudlak syndrome due to BLOC-3 deficiency - - Clinical subtype - - - - - - - - 231512 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231512 - Hermansky-Pudlak syndrome due to BLOC-2 deficiency - - Clinical subtype - - - - - - - - 231531 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231531 - Hermansky-Pudlak syndrome due to BLOC-1 deficiency - - Clinical subtype - - - - - - - - - - 2720 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2720 - Oculocerebral hypopigmentation syndrome, Preus type - - Malformation syndrome - - - - - - - - - - - - 280628 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280628 - Familial progressive hyper- and hypopigmentation - - Disease - - - - - - - - 447961 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447961 - Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome - - Disease - - - - - - - - - - 183472 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183472 - Genetic dermis disorder - - Category - - - - - - 183478 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183478 - Genetic skin vascular disorder - - Category - - - - - - 481662 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=481662 - Familial Chilblain lupus - - Disease - - - - - - - - 656071 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=656071 - Atrophic papulosis - - Disease - - - - - - 656085 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=656085 - Benign atrophic papulosis - - Clinical subtype - - - - - - - - 679 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=679 - Malignant atrophic papulosis - - Clinical subtype - - - - - - - - - - 324 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324 - Fabry disease - - Disease - - - - - - - - 100 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100 - Ataxia-telangiectasia - - Disease - - - - - - - - 774 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=774 - Hereditary hemorrhagic telangiectasia - - Disease - - - - - - - - 1059 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1059 - Blue rubber bleb nevus - - Malformation syndrome - - - - - - - - 2346 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2346 - Angioosteohypertrophic syndrome - - Clinical group - - - - - - 90308 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90308 - Capillary-lymphatic-venous malformation with segmental distribution - - Disease - - - - - - - - 90307 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90307 - Parkes Weber syndrome - - Disease - - - - - - - - - - 624 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=624 - Familial multiple nevi flammei - - Morphological anomaly - - - - - - - - 60040 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=60040 - Megalencephaly-capillary malformation-polymicrogyria syndrome - - Malformation syndrome - - - - - - - - 90280 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90280 - Chilblain lupus - - Disease - - - - - - - - 95429 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95429 - Angioma serpiginosum - - Disease - - - - - - - - 163634 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163634 - Maffucci syndrome - - Disease - - - - - - - - 313846 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313846 - Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome - - Disease - - - - - - - - - - 183481 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183481 - Genetic mixed dermis disorder - - Category - - - - - - 805 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=805 - Tuberous sclerosis complex - - Disease - - - - - - - - 974 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=974 - Adams-Oliver syndrome - - Malformation syndrome - - - - - - - - 1003 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1003 - Scalp defects-postaxial polydactyly syndrome - - Malformation syndrome - - - - - - - - 1116 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1116 - Aplasia cutis congenita-intestinal lymphangiectasia syndrome - - Disease - - - - - - - - 1117 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1117 - Aplasia cutis-myopia syndrome - - Disease - - - - - - - - 2036 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2036 - Scalp-ear-nipple syndrome - - Malformation syndrome - - - - - - - - 2092 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2092 - Focal dermal hypoplasia - - Malformation syndrome - - - - - - - - 2556 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2556 - Microphthalmia with linear skin defects syndrome - - Malformation syndrome - - - - - - - - 1114 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1114 - Aplasia cutis congenita - - Malformation syndrome - - - - - - - - - - 228215 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228215 - Genetic dermis elastic tissue disorder - - Category - - - - - - 230857 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=230857 - Ehlers-Danlos/osteogenesis imperfecta syndrome - - Disease - - - - - - - - 3071 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3071 - Costello syndrome - - Malformation syndrome - - - - - - - - 209 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209 - Cutis laxa - - Clinical group - - - - - - 2078 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2078 - Geroderma osteodysplastica - - Malformation syndrome - - - - - - - - 2962 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2962 - De Barsy syndrome - - Disease - - - - - - 35664 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35664 - ALDH18A1-related De Barsy syndrome - - Etiological subtype - - - - - - - - 293633 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293633 - PYCR1-related De Barsy syndrome - - Etiological subtype - - - - - - - - - - 3134 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3134 - SCARF syndrome - - Malformation syndrome - - - - - - - - 3342 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3342 - Arterial tortuosity syndrome - - Malformation syndrome - - - - - - - - 198 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=198 - Occipital horn syndrome - - Disease - - - - - - - - 90348 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90348 - Autosomal dominant cutis laxa - - Disease - - - - - - - - 90349 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90349 - Autosomal recessive cutis laxa type 1 - - Disease - - - - - - - - 90350 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90350 - Autosomal recessive cutis laxa type 2 - - Clinical group - - - - - - 357058 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357058 - Autosomal recessive cutis laxa type 2A - - Disease - - - - - - 2834 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2834 - Wrinkly skin syndrome - - Clinical subtype - - - - - - - - 357074 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357074 - Autosomal recessive cutis laxa type 2, classic type - - Clinical subtype - - - - - - - - - - 357064 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357064 - Autosomal recessive cutis laxa type 2B - - Disease - - - - - - - - - - 217335 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217335 - RIN2 syndrome - - Malformation syndrome - - - - - - - - 221145 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221145 - Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies - - Malformation syndrome - - - - - - - - 363705 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363705 - Craniofaciofrontodigital syndrome - - Disease - - - - - - - - 314718 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314718 - Lethal arteriopathy syndrome due to fibulin-4 deficiency - - Disease - - - - - - - - - - 758 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=758 - Pseudoxanthoma elasticum - - Disease - - - - - - - - 53296 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53296 - Familial cutaneous collagenoma - - Disease - - - - - - - - 79147 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79147 - Familial reactive perforating collagenosis - - Disease - - - - - - - - 91135 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91135 - Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency - - Disease - - - - - - - - 98249 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98249 - Ehlers-Danlos syndrome - - Clinical group - - - - - - 287 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=287 - Classical Ehlers-Danlos syndrome - - Disease - - - - - - - - 2953 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2953 - Musculocontractural Ehlers-Danlos syndrome - - Disease - - - - - - - - 285 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=285 - Hypermobile Ehlers-Danlos syndrome - - Disease - - - - - - - - 286 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=286 - Vascular Ehlers-Danlos syndrome - - Disease - - - - - - - - 536545 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=536545 - Kyphoscoliotic Ehlers-Danlos syndrome - - Disease - - - - - - 1900 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1900 - Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency - - Clinical subtype - - - - - - - - 300179 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300179 - Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency - - Clinical subtype - - - - - - - - - - 1899 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1899 - Arthrochalasia Ehlers-Danlos syndrome - - Disease - - - - - - - - 1901 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1901 - Dermatosparaxis Ehlers-Danlos syndrome - - Disease - - - - - - - - 75392 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75392 - Periodontal Ehlers-Danlos syndrome - - Disease - - - - - - - - 536471 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=536471 - Spondylodysplastic Ehlers-Danlos syndrome - - Disease - - - - - - 75496 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75496 - B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome - - Clinical subtype - - - - - - - - 536467 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=536467 - B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome - - Clinical subtype - - - - - - - - 157965 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157965 - SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome - - Clinical subtype - - - - - - - - - - 75497 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75497 - X-linked Ehlers-Danlos syndrome - - Disease - - - - - - - - 90354 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90354 - Brittle cornea syndrome - - Disease - - - - - - - - 536516 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=536516 - Myopathic Ehlers-Danlos syndrome - - Disease - - - - - - - - 230839 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=230839 - Classical-like Ehlers-Danlos syndrome type 1 - - Disease - - - - - - - - 230851 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=230851 - Cardiac-valvular Ehlers-Danlos syndrome - - Disease - - - - - - - - 536532 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=536532 - Classical-like Ehlers-Danlos syndrome type 2 - - Disease - - - - - - - - 636941 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=636941 - Vascular Ehlers-Danlos-polymicrogyria syndrome - - Disease - - - - - - - - - - 228277 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228277 - Familial anetoderma - - Disease - - - - - - - - 436274 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436274 - Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa - - Disease - - - - - - - - 1659 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1659 - Dermatoleukodystrophy - - Disease - - - - - - - - 2295 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2295 - Familial articular hypermobility syndrome - - Disease - - - - - - - - - - 477808 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477808 - Other genetic dermis disorder - - Category - - - - - - 1764 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1764 - Familial dysautonomia - - Disease - - - - - - - - 1555 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1555 - Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome - - Malformation syndrome - - - - - - - - 2028 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2028 - Juvenile hyaline fibromatosis - - Clinical subtype - - - - - - - - 2762 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2762 - Progressive osseous heteroplasia - - Malformation syndrome - - - - - - - - 2796 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2796 - Pachydermoperiostosis - - Malformation syndrome - - - - - - - - 2987 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2987 - Antecubital pterygium syndrome - - Malformation syndrome - - - - - - - - 530 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=530 - Lipoid proteinosis - - Malformation syndrome - - - - - - - - 79149 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79149 - Dermochondrocorneal dystrophy - - Disease - - - - - - - - 90340 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90340 - Blau syndrome - - Disease - - - - - - - - 140933 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140933 - Linear atrophoderma of Moulin - - Disease - - - - - - - - 353220 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353220 - Familial primary localized cutaneous amyloidosis - - Disease - - - - - - - - 357225 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357225 - Primary non-essential cutis verticis gyrata - - Disease - - - - - - - - 457059 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457059 - Pseudohypoparathyroidism with Albright hereditary osteodystrophy - - Clinical group - - - - - - 79443 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79443 - Pseudohypoparathyroidism type 1A - - Disease - - - - - - - - 79444 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79444 - Pseudohypoparathyroidism type 1C - - Disease - - - - - - - - 79445 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79445 - Pseudopseudohypoparathyroidism - - Disease - - - - - - - - - - 468666 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=468666 - Isolated generalized anhidrosis with normal sweat glands - - Disease - - - - - - - - - - - - 183484 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183484 - Genetic subcutaneous tissue disorder - - Category - - - - - - 333 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=333 - Farber disease - - Disease - - - - - - - - 337 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=337 - Fibrodysplasia ossificans progressiva - - Disease - - - - - - - - 909 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=909 - Cerebrotendinous xanthomatosis - - Disease - - - - - - - - 2398 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2398 - Multiple symmetric lipomatosis - - Disease - - - - - - - - 2396 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2396 - Encephalocraniocutaneous lipomatosis - - Disease - - - - - - - - 529 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=529 - Roch-Leri mesosomatous lipomatosis - - Disease - - - - - - - - 98305 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98305 - Genetic lipodystrophy - - Category - - - - - - 324977 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324977 - Proteasome-associated autoinflammatory syndrome - - Disease - - - - - - - - 528 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=528 - Congenital generalized lipodystrophy - - Disease - - - - - - 696289 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=696289 - Congenital generalized lipodystrophy type 2 - - Clinical subtype - - - - - - - - 696242 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=696242 - PPARG-associated congenital generalized lipodystrophy - - Clinical subtype - - - - - - - - 696206 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=696206 - Congenital generalized lipodystrophy type 3 - - Clinical subtype - - - - - - - - 696189 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=696189 - Congenital generalized lipodystrophy type 1 - - Clinical subtype - - - - - - - - 228429 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228429 - Congenital generalized lipodystrophy type 4 - - Clinical subtype - - - - - - - - - - 1979 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1979 - Lipodystrophy due to peptidic growth factors deficiency - - Disease - - - - - - - - 2457 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2457 - Mandibuloacral dysplasia - - Malformation syndrome - - - - - - 90153 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90153 - Mandibuloacral dysplasia with type A lipodystrophy - - Clinical subtype - - - - - - - - 90154 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90154 - Mandibuloacral dysplasia with type B lipodystrophy - - Clinical subtype - - - - - - - - - - 3163 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3163 - SHORT syndrome - - Malformation syndrome - - - - - - - - 3455 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3455 - Wiedemann-Rautenstrauch syndrome - - Malformation syndrome - - - - - - - - 50811 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50811 - Lipodystrophy-intellectual disability-deafness syndrome - - Disease - - - - - - - - 98306 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98306 - Familial partial lipodystrophy - - Clinical group - - - - - - 2348 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2348 - Familial partial lipodystrophy, Dunnigan type - - Disease - - - - - - - - 79083 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79083 - PPARG-related familial partial lipodystrophy - - Disease - - - - - - - - 79084 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79084 - Familial partial lipodystrophy, Köbberling type - - Disease - - - - - - - - 79085 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79085 - AKT2-related familial partial lipodystrophy - - Disease - - - - - - - - 280356 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280356 - PLIN1-related familial partial lipodystrophy - - Disease - - - - - - - - 280365 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280365 - Autosomal semi-dominant severe lipodystrophic laminopathy - - Disease - - - - - - - - 435651 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435651 - CIDEC-related familial partial lipodystrophy - - Disease - - - - - - - - 435660 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435660 - LIPE-related familial partial lipodystrophy - - Disease - - - - - - - - - - 363400 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363400 - Progressive encephalopathy-severe neurodegeneration-lipodystrophy syndrome - - Disease - - - - - - - - 435628 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435628 - Keppen-Lubinsky syndrome - - Malformation syndrome - - - - - - - - 686999 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=686999 - Lipodystrophy-demyelinating peripheral sensory-motor neuropathy syndrome - - Disease - - - - - - - - 363649 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363649 - Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome - - Disease - - - - - - - - 280576 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280576 - Nestor-Guillermo progeria syndrome - - Malformation syndrome - - - - - - - - - - 140944 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140944 - CLOVES syndrome - - Malformation syndrome - - - - - - - - 199276 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199276 - Familial multiple lipomatosis - - Disease - - - - - - - - 199279 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199279 - Familial angiolipomatosis - - Disease - - - - - - - - 404454 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404454 - Alacrimia-choreoathetosis-liver dysfunction syndrome - - Disease - - - - - - - - 468666 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=468666 - Isolated generalized anhidrosis with normal sweat glands - - Disease - - - - - - - - - - 183490 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183490 - Genetic photodermatosis - - Category - - - - - - 90342 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90342 - Xeroderma pigmentosum variant - - Disease - - - - - - - - 125 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=125 - Bloom syndrome - - Disease - - - - - - - - 2116 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2116 - Hartnup disease - - Disease - - - - - - - - 738 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=738 - Porphyria - - Clinical group - - - - - - 659681 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=659681 - Erythropoietic porphyria - - Clinical group - - - - - - 79277 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79277 - Congenital erythropoietic porphyria - - Disease - - - - - - - - 79278 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79278 - Autosomal erythropoietic protoporphyria - - Disease - - - - - - - - 443197 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443197 - X-linked erythropoietic protoporphyria - - Disease - - - - - - - - 280379 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280379 - Erythropoietic uroporphyria associated with myeloid malignancy - - Disease - - - - - - - - 95159 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95159 - Hepatoerythropoietic porphyria - - Disease - - - - - - - - 659672 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=659672 - Harderoporphyria - - Disease - - - - - - - - - - 659694 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=659694 - Hepatic porphyria - - Clinical group - - - - - - 95157 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95157 - Acute hepatic porphyria - - Clinical group - - - - - - 79273 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79273 - Hereditary coproporphyria - - Disease - - - - - - - - 79276 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79276 - Acute intermittent porphyria - - Disease - - - - - - - - 79473 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79473 - Variegate porphyria - - Disease - - - - - - - - 100924 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100924 - Porphyria due to ALA dehydratase deficiency - - Disease - - - - - - - - - - 659698 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=659698 - Hepatic cutaneous porphyria - - Clinical group - - - - - - 101330 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101330 - Porphyria cutanea tarda - - Disease - - - - - - 443057 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443057 - Sporadic porphyria cutanea tarda - - Clinical subtype - - - - - - - - 443062 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443062 - Familial porphyria cutanea tarda - - Clinical subtype - - - - - - - - - - - - - - - - 2909 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2909 - Rothmund-Thomson syndrome - - Disease - - - - - - 221008 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221008 - Rothmund-Thomson syndrome type 1 - - Clinical subtype - - - - - - - - 221016 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221016 - Rothmund-Thomson syndrome type 2 - - Clinical subtype - - - - - - - - - - 910 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=910 - Xeroderma pigmentosum - - Disease - - - - - - - - 178338 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178338 - UV-sensitive syndrome - - Disease - - - - - - - - 220295 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220295 - Xeroderma pigmentosum-Cockayne syndrome complex - - Disease - - - - - - - - 2908 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2908 - Kindler epidermolysis bullosa - - Disease - - - - - - - - - - 183494 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183494 - Genetic immune deficiency with skin involvement - - Category - - - - - - 568056 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=568056 - Warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome - - Disease - - - - - - - - 906 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=906 - Wiskott-Aldrich syndrome - - Disease - - - - - - - - 379 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=379 - Chronic granulomatous disease - - Disease - - - - - - - - 167 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=167 - Chédiak-Higashi syndrome - - Disease - - - - - - - - 1334 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1334 - Chronic mucocutaneous candidiasis - - Disease - - - - - - - - 2314 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2314 - Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency - - Disease - - - - - - - - 1839 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1839 - Hereditary mucoepithelial dysplasia - - Malformation syndrome - - - - - - - - 302 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=302 - Inherited epidermodysplasia verruciformis - - Disease - - - - - - - - 314 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314 - Erythroderma desquamativum - - Disease - - - - - - - - 79477 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79477 - Griscelli syndrome type 2 - - Clinical subtype - - - - - - - - 83617 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83617 - Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome - - Malformation syndrome - - - - - - - - 157949 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157949 - Combined immunodeficiency with granulomatosis - - Disease - - - - - - - - 51636 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=51636 - WHIM syndrome - - Disease - - - - - - - - 641368 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=641368 - Autosomal recessive hyper-IgE syndrome due to ZNF341 deficiency - - Disease - - - - - - - - 656912 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=656912 - Autosomal dominant combined immunodeficiency due to ERBIN deficiency - - Disease - - - - - - - - 656300 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=656300 - Autosomal recessive combined immunodeficiency due to partial IL6ST deficiency - - Disease - - - - - - - - 656326 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=656326 - Autosomal recessive combined immunodeficiency due to IL6R deficiency - - Disease - - - - - - - - 658946 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=658946 - Early-onset immune dysregulation with autoimmunity due to DOCK11 partial deficiency - - Disease - - - - - - - - 596759 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=596759 - Combined immunodeficiency due to RELA haploinsufficiency - - Disease - - - - - - - - - - 182734 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=182734 - Genetic urticaria - - Clinical group - - - - - - 493342 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=493342 - Vibratory urticaria - - Disease - - - - - - - - - - - - 68367 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=68367 - Rare inborn errors of metabolism - - Category - - - - - - 137 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137 - Congenital disorder of glycosylation - - Category - - - - - - 309347 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309347 - Disorder of protein N-glycosylation - - Category - - - - - - 79318 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79318 - PMM2-CDG - - Disease - - - - - - - - 79319 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79319 - MPI-CDG - - Disease - - - - - - - - 79320 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79320 - ALG6-CDG - - Disease - - - - - - - - 79321 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79321 - ALG3-CDG - - Disease - - - - - - - - 79324 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79324 - ALG12-CDG - - Disease - - - - - - - - 79325 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79325 - ALG8-CDG - - Disease - - - - - - - - 79326 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79326 - ALG2-CDG - - Disease - - - - - - - - 79327 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79327 - ALG1-CDG - - Disease - - - - - - - - 79328 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79328 - ALG9-CDG - - Disease - - - - - - - - 79329 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79329 - MGAT2-CDG - - Disease - - - - - - - - 79330 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79330 - MOGS-CDG - - Disease - - - - - - - - 86309 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86309 - DPAGT1-CDG - - Disease - - - - - - - - 244310 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=244310 - RFT1-CDG - - Disease - - - - - - - - 280071 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280071 - ALG11-CDG - - Disease - - - - - - - - 300536 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300536 - DDOST-CDG - - Disease - - - - - - - - 314667 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314667 - TMEM165-CDG - - Disease - - - - - - - - 319646 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319646 - PGM1-CDG - - Disease - - - - - - - - 324422 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324422 - ALG13-CDG - - Disease - - - - - - - - 353327 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353327 - Congenital myasthenic syndromes with glycosylation defect - - Etiological subtype - - - - - - - - 370921 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370921 - STT3A-CDG - - Disease - - - - - - - - 370924 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370924 - STT3B-CDG - - Disease - - - - - - - - 370927 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370927 - SSR4-CDG - - Disease - - - - - - - - 370943 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370943 - Autism spectrum disorder-epilepsy-arthrogryposis syndrome - - Disease - - - - - - - - 397941 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397941 - MAN1B1-CDG - - Disease - - - - - - - - 697734 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=697734 - ST3GAL3-CDG - - Disease - - - - - - - - 468699 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=468699 - SLC39A8-CDG - - Disease - - - - - - - - 695110 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=695110 - MAN2B2-CDG - - Disease - - - - - - - - 695783 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=695783 - EDEM3-CDG - - Disease - - - - - - - - - - 309447 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309447 - Disorder of protein O-glycosylation - - Category - - - - - - 309450 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309450 - Disorder of O-xylosylglycan synthesis - - Category - - - - - - 466926 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466926 - Seizures-scoliosis-macrocephaly syndrome - - Disease - - - - - - - - 480682 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480682 - POGLUT1-related limb-girdle muscular dystrophy R21 - - Disease - - - - - - - - 321 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=321 - Multiple osteochondromas - - Disease - - - - - - - - 2953 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2953 - Musculocontractural Ehlers-Danlos syndrome - - Disease - - - - - - - - 75496 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75496 - B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome - - Clinical subtype - - - - - - - - 263463 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263463 - CHST3-related skeletal dysplasia - - Disease - - - - - - - - 284139 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284139 - Larsen-like syndrome, B3GAT3 type - - Malformation syndrome - - - - - - - - 363417 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363417 - Temtamy preaxial brachydactyly syndrome - - Malformation syndrome - - - - - - - - 370930 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370930 - XYLT1-CDG - - Disease - - - - - - - - 536467 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=536467 - B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome - - Clinical subtype - - - - - - - - - - 309458 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309458 - Disorder of O-N-acetylgalactosaminylglycan synthesis - - Category - - - - - - 306661 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306661 - Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome - - Clinical subtype - - - - - - - - - - 309463 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309463 - Disorder of O-xylosyl/N-acetylgalactosaminylglycan synthesis - - Category - - - - - - 3144 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3144 - Schneckenbecken dysplasia - - Malformation syndrome - - - - - - - - - - 309469 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309469 - Disorder of O-mannosylglycan synthesis - - Category - - - - - - 272 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=272 - Congenital muscular dystrophy, Fukuyama type - - Malformation syndrome - - - - - - - - 899 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=899 - Walker-Warburg syndrome - - Disease - - - - - - - - 588 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=588 - Muscle-eye-brain disease - - Malformation syndrome - - - - - - - - 34515 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=34515 - FKRP-related limb-girdle muscular dystrophy R9 - - Disease - - - - - - - - 86812 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86812 - POMT1-related limb-girdle muscular dystrophy R11 - - Disease - - - - - - - - 206554 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206554 - Fukutin-related limb-girdle muscular dystrophy R13 - - Disease - - - - - - - - 206559 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206559 - POMT2-related limb-girdle muscular dystrophy R14 - - Disease - - - - - - - - 206564 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206564 - POMGNT1-related limb-girdle muscular dystrophy R15 - - Disease - - - - - - - - 352479 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352479 - ISPD-related limb-girdle muscular dystrophy R20 - - Disease - - - - - - - - 363623 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363623 - GMPPB-related limb-girdle muscular dystrophy R19 - - Disease - - - - - - - - 370959 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370959 - Congenital muscular dystrophy with cerebellar involvement - - Disease - - - - - - - - 370968 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370968 - Congenital muscular dystrophy with intellectual disability - - Disease - - - - - - - - 370980 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370980 - Congenital muscular dystrophy without intellectual disability - - Disease - - - - - - - - 445110 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=445110 - Limb-girdle muscular dystrophy due to POMK deficiency - - Disease - - - - - - - - - - 309505 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309505 - Disorder of fucoglycosan synthesis - - Category - - - - - - 709 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=709 - Peters plus syndrome - - Malformation syndrome - - - - - - - - 2311 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2311 - Autosomal recessive spondylocostal dysostosis - - Malformation syndrome - - - - - - - - 79145 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79145 - Dowling-Degos disease - - Disease - - - - - - - - - - - - 309515 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309515 - Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation - - Category - - - - - - 401820 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401820 - Autosomal recessive spastic paraplegia type 67 - - Disease - - - - - - - - 300496 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300496 - Multiple congenital anomalies-hypotonia-seizures syndrome type 2 - - Malformation syndrome - - - - - - - - 370933 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370933 - GM3 synthase deficiency - - Disease - - - - - - - - 397922 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397922 - Ferro-cerebro-cutaneous syndrome - - Disease - - - - - - - - 447 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447 - Paroxysmal nocturnal hemoglobinuria - - Disease - - - - - - - - 3474 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3474 - CHIME syndrome - - Malformation syndrome - - - - - - - - 83639 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83639 - Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency - - Disease - - - - - - - - 247262 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247262 - Hyperphosphatasia-intellectual disability syndrome - - Disease - - - - - - - - 280633 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280633 - Multiple congenital anomalies-hypotonia-seizures syndrome - - Malformation syndrome - - - - - - - - 488635 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488635 - Early-onset epilepsy-intellectual disability-brain anomalies syndrome - - Disease - - - - - - - - 369837 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369837 - Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome - - Malformation syndrome - - - - - - - - - - 309526 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309526 - Disorder of multiple glycosylation - - Category - - - - - - 602 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=602 - GNE myopathy - - Disease - - - - - - - - 79322 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79322 - DPM1-CDG - - Disease - - - - - - - - 79323 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79323 - MPDU1-CDG - - Disease - - - - - - - - 79332 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79332 - B4GALT1-CDG - - Disease - - - - - - - - 91131 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91131 - DK1-CDG - - Disease - - - - - - - - 98873 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98873 - Congenital dyserythropoietic anemia type II - - Disease - - - - - - - - 99843 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99843 - Leukocyte adhesion deficiency type II - - Clinical subtype - - - - - - - - 238459 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238459 - SLC35A1-CDG - - Disease - - - - - - - - 263494 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263494 - DPM3-CDG - - Disease - - - - - - - - 309568 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309568 - Defect in conserved oligomeric Golgi complex - - Category - - - - - - 464443 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464443 - COG6-CGD - - Disease - - - - - - - - 79333 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79333 - COG7-CDG - - Disease - - - - - - - - 95428 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95428 - COG8-CDG - - Disease - - - - - - - - 263487 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263487 - COG5-CDG - - Disease - - - - - - - - 263501 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263501 - COG4-CDG - - Disease - - - - - - - - 263508 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263508 - COG1-CDG - - Disease - - - - - - - - 435934 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435934 - COG2-CDG - - Disease - - - - - - - - - - 309778 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309778 - Defect in V-ATPase - - Category - - - - - - 357058 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357058 - Autosomal recessive cutis laxa type 2A - - Disease - - - - - - 2834 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2834 - Wrinkly skin syndrome - - Clinical subtype - - - - - - - - 357074 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357074 - Autosomal recessive cutis laxa type 2, classic type - - Clinical subtype - - - - - - - - - - 692790 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=692790 - ATP6AP1-CDG - - Disease - - - - - - - - - - 324737 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324737 - SRD5A3-CDG - - Disease - - - - - - - - 329178 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329178 - Congenital muscular dystrophy with intellectual disability and severe epilepsy - - Disease - - - - - - - - 356961 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=356961 - SLC35A2-CDG - - Disease - - - - - - - - 443811 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443811 - PGM3-CDG - - Disease - - - - - - - - 448010 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=448010 - CAD-CDG - - Disease - - - - - - - - 466703 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466703 - TMEM199-CDG - - Disease - - - - - - - - 468684 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=468684 - CCDC115-CDG - - Disease - - - - - - - - - - - - 68366 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=68366 - Lysosomal disease - - Category - - - - - - 306511 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306511 - Autosomal recessive spastic paraplegia type 48 - - Disease - - - - - - - - 763 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=763 - Pycnodysostosis - - Disease - - - - - - - - 216 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216 - Neuronal ceroid lipofuscinosis - - Clinical group - - - - - - 228329 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228329 - CLN1 disease - - Disease - - - - - - 699718 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699718 - Infantile CLN1 disease - - Clinical subtype - - - - - - - - 699739 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699739 - Juvenile CLN1 disease - - Clinical subtype - - - - - - - - 699745 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699745 - Adult CLN1 disease - - Clinical subtype - - - - - - - - 699734 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699734 - Late infantile CLN1 disease - - Clinical subtype - - - - - - - - - - 228349 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228349 - CLN2 disease - - Disease - - - - - - 699751 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699751 - Infantile CLN2 disease - - Clinical subtype - - - - - - - - 699769 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699769 - Juvenile CLN2 disease - - Clinical subtype - - - - - - - - 699761 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699761 - Late infantile CLN2 disease - - Clinical subtype - - - - - - - - - - 228346 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228346 - CLN3 disease - - Disease - - - - - - 699780 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699780 - Juvenile CLN3 disease - - Clinical subtype - - - - - - - - 699796 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699796 - Protracted juvenile CLN3 disease - - Clinical subtype - - - - - - - - - - 228343 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228343 - CLN4 disease - - Disease - - - - - - - - 314632 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314632 - CLN12 disease - - Disease - - - - - - - - 314629 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314629 - CLN11 disease - - Disease - - - - - - - - 699708 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699708 - CLN14 disease - - Disease - - - - - - - - 228360 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228360 - CLN5 disease - - Disease - - - - - - 699802 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699802 - Late infantile CLN5 disease - - Clinical subtype - - - - - - - - 699807 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699807 - Juvenile CLN5 disease - - Clinical subtype - - - - - - - - 699812 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699812 - Adult CLN5 disease - - Clinical subtype - - - - - - - - - - 228363 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228363 - CLN6 disease - - Disease - - - - - - 700477 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700477 - Adult CLN6 disease - - Clinical subtype - - - - - - - - 700467 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700467 - Late infantile CLN6 disease - - Clinical subtype - - - - - - - - 700472 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700472 - Juvenile CLN6 disease - - Clinical subtype - - - - - - - - - - 228366 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228366 - CLN7 disease - - Disease - - - - - - - - 228354 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228354 - CLN8 disease - - Disease - - - - - - 700484 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700484 - Late infantile CLN8 disease - - Clinical subtype - - - - - - - - 1947 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1947 - Northern epilepsy - - Clinical subtype - - - - - - - - - - 352709 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352709 - CLN13 disease - - Disease - - - - - - - - 228337 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228337 - CLN10 disease - - Disease - - - - - - 700487 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700487 - Congenital CLN10 disease - - Clinical subtype - - - - - - - - 700492 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700492 - Late infantile CLN10 disease - - Clinical subtype - - - - - - - - 700497 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700497 - Juvenile CLN10 disease - - Clinical subtype - - - - - - - - - - - - 35121 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35121 - Lysosomal acid phosphatase deficiency - - Disease - - - - - - - - 79207 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79207 - Disorder of lysosomal amino acid transport - - Category - - - - - - 213 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213 - Cystinosis - - Disease - - - - - - 411629 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411629 - Infantile nephropathic cystinosis - - Clinical subtype - - - - - - - - 411634 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411634 - Juvenile nephropathic cystinosis - - Clinical subtype - - - - - - - - 411641 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411641 - Ocular cystinosis - - Clinical subtype - - - - - - - - - - 834 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=834 - Free sialic acid storage disease - - Disease - - - - - - 309324 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309324 - Free sialic acid storage disease, infantile form - - Clinical subtype - - - - - - - - 309331 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309331 - Intermediate severe Salla disease - - Clinical subtype - - - - - - - - 309334 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309334 - Salla disease - - Clinical subtype - - - - - - - - - - - - 79213 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79213 - Mucopolysaccharidosis - - Category - - - - - - 67041 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=67041 - Hyaluronidase deficiency - - Disease - - - - - - - - 583 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=583 - Mucopolysaccharidosis type 6 - - Disease - - - - - - 276212 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276212 - Mucopolysaccharidosis type 6, rapidly progressing - - Clinical subtype - - - - - - - - 276223 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276223 - Mucopolysaccharidosis type 6, slowly progressing - - Clinical subtype - - - - - - - - - - 584 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=584 - Mucopolysaccharidosis type 7 - - Disease - - - - - - - - 580 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=580 - Mucopolysaccharidosis type 2 - - Disease - - - - - - 217085 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217085 - Mucopolysaccharidosis type 2, severe form - - Clinical subtype - - - - - - - - 217093 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217093 - Mucopolysaccharidosis type 2, attenuated form - - Clinical subtype - - - - - - - - - - 579 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=579 - Mucopolysaccharidosis type 1 - - Disease - - - - - - 93473 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93473 - Hurler syndrome - - Clinical subtype - - - - - - - - 93474 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93474 - Scheie syndrome - - Clinical subtype - - - - - - - - 93476 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93476 - Hurler-Scheie syndrome - - Clinical subtype - - - - - - - - - - 581 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=581 - Mucopolysaccharidosis type 3 - - Disease - - - - - - 79269 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79269 - Sanfilippo syndrome type A - - Etiological subtype - - - - - - - - 79270 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79270 - Sanfilippo syndrome type B - - Etiological subtype - - - - - - - - 79271 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79271 - Sanfilippo syndrome type C - - Etiological subtype - - - - - - - - 79272 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79272 - Sanfilippo syndrome type D - - Etiological subtype - - - - - - - - - - 582 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=582 - Mucopolysaccharidosis type 4 - - Disease - - - - - - 309297 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309297 - Mucopolysaccharidosis type 4A - - Clinical subtype - - - - - - - - 309310 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309310 - Mucopolysaccharidosis type 4B - - Clinical subtype - - - - - - - - - - 662216 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662216 - Mucopolysaccharidosis type 10 - - Disease - - - - - - - - - - 79225 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79225 - Sphingolipidosis - - Category - - - - - - 585 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=585 - Multiple sulfatase deficiency - - Disease - - - - - - - - 333 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=333 - Farber disease - - Disease - - - - - - - - 487 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=487 - Krabbe disease - - Disease - - - - - - 206443 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206443 - Late-infantile/juvenile Krabbe disease - - Clinical subtype - - - - - - - - 206448 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206448 - Adult Krabbe disease - - Clinical subtype - - - - - - - - 206436 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206436 - Infantile Krabbe disease - - Clinical subtype - - - - - - - - - - 324 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324 - Fabry disease - - Disease - - - - - - - - 512 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=512 - Metachromatic leukodystrophy - - Disease - - - - - - 309256 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309256 - Metachromatic leukodystrophy, late infantile form - - Clinical subtype - - - - - - - - 309263 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309263 - Metachromatic leukodystrophy, juvenile form - - Clinical subtype - - - - - - - - 309271 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309271 - Metachromatic leukodystrophy, adult form - - Clinical subtype - - - - - - - - - - 355 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=355 - Gaucher disease - - Disease - - - - - - 2072 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2072 - Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome - - Clinical subtype - - - - - - - - 77259 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77259 - Gaucher disease type 1 - - Clinical subtype - - - - - - - - 77260 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77260 - Gaucher disease type 2 - - Clinical subtype - - - - - - - - 77261 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77261 - Gaucher disease type 3 - - Clinical subtype - - - - - - - - 85212 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85212 - Fetal Gaucher disease - - Clinical subtype - - - - - - - - 309252 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309252 - Atypical Gaucher disease due to saposin C deficiency - - Clinical subtype - - - - - - - - - - 79204 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79204 - Lipid storage disease - - Category - - - - - - 646 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=646 - Niemann-Pick disease type C - - Disease - - - - - - 216972 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216972 - Niemann-Pick disease type C, severe perinatal form - - Clinical subtype - - - - - - - - 216975 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216975 - Niemann-Pick disease type C, severe early infantile neurologic onset - - Clinical subtype - - - - - - - - 216978 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216978 - Niemann-Pick disease type C, late infantile neurologic onset - - Clinical subtype - - - - - - - - 216981 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216981 - Niemann-Pick disease type C, juvenile neurologic onset - - Clinical subtype - - - - - - - - 216986 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216986 - Niemann-Pick disease type C, adult neurologic onset - - Clinical subtype - - - - - - - - - - 275761 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275761 - Lysosomal acid lipase deficiency - - Disease - - - - - - 75233 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75233 - Wolman disease - - Clinical subtype - - - - - - - - 75234 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75234 - Cholesteryl ester storage disease - - Clinical subtype - - - - - - - - - - - - 139406 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139406 - Encephalopathy due to prosaposin deficiency - - Disease - - - - - - - - 309144 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309144 - Gangliosidosis - - Category - - - - - - 354 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=354 - GM1 gangliosidosis - - Disease - - - - - - 79255 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79255 - GM1 gangliosidosis type 1 - - Clinical subtype - - - - - - - - 79256 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79256 - GM1 gangliosidosis type 2 - - Clinical subtype - - - - - - - - 79257 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79257 - GM1 gangliosidosis type 3 - - Clinical subtype - - - - - - - - - - 309152 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309152 - GM2 gangliosidosis - - Clinical group - - - - - - 796 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=796 - Sandhoff disease - - Disease - - - - - - 309155 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309155 - Sandhoff disease, infantile form - - Clinical subtype - - - - - - - - 309162 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309162 - Sandhoff disease, juvenile form - - Clinical subtype - - - - - - - - 309169 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309169 - Sandhoff disease, adult form - - Clinical subtype - - - - - - - - - - 845 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=845 - Tay-Sachs disease - - Disease - - - - - - 309178 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309178 - Tay-Sachs disease, infantile form - - Clinical subtype - - - - - - - - 309185 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309185 - Tay-Sachs disease, juvenile form - - Clinical subtype - - - - - - - - 309192 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309192 - Tay-Sachs disease, adult form - - Clinical subtype - - - - - - - - - - 309246 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309246 - GM2 gangliosidosis, AB variant - - Disease - - - - - - - - - - - - 352641 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352641 - Autosomal recessive cerebellar ataxia with late-onset spasticity - - Disease - - - - - - - - 618899 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=618899 - Acid sphingomyelinase deficiency - - Clinical group - - - - - - 77292 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77292 - Infantile neurovisceral acid sphingomyelinase deficiency - - Disease - - - - - - - - 77293 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77293 - Chronic visceral acid sphingomyelinase deficiency - - Disease - - - - - - - - 618891 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=618891 - Chronic neurovisceral acid sphingomyelinase deficiency - - Disease - - - - - - - - - - - - 309279 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309279 - Glycoproteinosis - - Category - - - - - - 79212 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79212 - Mucolipidosis - - Category - - - - - - 576 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=576 - Mucolipidosis type II - - Disease - - - - - - - - 577 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=577 - Mucolipidosis type III - - Disease - - - - - - 423461 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423461 - Mucolipidosis type III alpha/beta - - Clinical subtype - - - - - - - - 423470 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423470 - Mucolipidosis type III gamma - - Clinical subtype - - - - - - - - - - 578 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=578 - Mucolipidosis type IV - - Disease - - - - - - - - - - 79215 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79215 - Oligosaccharidosis - - Category - - - - - - 61 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=61 - Alpha-mannosidosis - - Disease - - - - - - 309282 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309282 - Alpha-mannosidosis, infantile form - - Clinical subtype - - - - - - - - 309288 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309288 - Alpha-mannosidosis, adult form - - Clinical subtype - - - - - - - - - - 93 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93 - Aspartylglucosaminuria - - Disease - - - - - - - - 118 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=118 - Beta-mannosidosis - - Disease - - - - - - - - 349 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=349 - Fucosidosis - - Disease - - - - - - - - 351 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=351 - Galactosialidosis - - Disease - - - - - - - - 3137 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3137 - Alpha-N-acetylgalactosaminidase deficiency - - Disease - - - - - - 79279 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79279 - Alpha-N-acetylgalactosaminidase deficiency type 1 - - Clinical subtype - - - - - - - - 79280 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79280 - Alpha-N-acetylgalactosaminidase deficiency type 2 - - Clinical subtype - - - - - - - - 79281 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79281 - Alpha-N-acetylgalactosaminidase deficiency type 3 - - Clinical subtype - - - - - - - - - - 309294 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309294 - Sialidosis - - Clinical group - - - - - - 812 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=812 - Sialidosis type 1 - - Disease - - - - - - - - 87876 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=87876 - Sialidosis type 2 - - Disease - - - - - - 93399 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93399 - Juvenile sialidosis type 2 - - Clinical subtype - - - - - - - - 93400 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93400 - Congenital sialidosis type 2 - - Clinical subtype - - - - - - - - - - - - - - - - 309319 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309319 - Disorder of sialic acid metabolism - - Category - - - - - - 3166 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3166 - Sialuria - - Disease - - - - - - - - - - 309337 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309337 - Lysosomal glycogen storage disease - - Category - - - - - - 365 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=365 - Glycogen storage disease due to acid maltase deficiency - - Disease - - - - - - 308552 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308552 - Glycogen storage disease due to acid maltase deficiency, infantile onset - - Clinical subtype - - - - - - - - 420429 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420429 - Glycogen storage disease due to acid maltase deficiency, late-onset - - Clinical subtype - - - - - - - - - - 34587 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=34587 - Danon disease - - Disease - - - - - - - - - - - - 68373 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=68373 - Peroxisomal disease - - Category - - - - - - 79189 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79189 - Peroxisome biogenesis disorder - - Clinical group - - - - - - 912 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=912 - Zellweger syndrome - - Disease - - - - - - - - 44 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=44 - Neonatal adrenoleukodystrophy - - Disease - - - - - - - - 772 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=772 - Infantile Refsum disease - - Disease - - - - - - - - - - 309810 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309810 - Disorder of peroxisomal alpha-, beta- and omega-oxidation - - Category - - - - - - 773 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=773 - Refsum disease - - Disease - - - - - - - - 926 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=926 - Acatalasemia - - Disease - - - - - - - - 35706 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35706 - Glutaric acidemia type 3 - - Disease - - - - - - - - 79095 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79095 - Congenital bile acid synthesis defect type 4 - - Disease - - - - - - - - 79188 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79188 - Peroxisomal beta-oxidation disorder - - Category - - - - - - 2971 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2971 - Peroxisomal acyl-CoA oxidase deficiency - - Disease - - - - - - - - 43 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=43 - X-linked adrenoleukodystrophy - - Disease - - - - - - 139396 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139396 - X-linked cerebral adrenoleukodystrophy - - Clinical subtype - - - - - - - - 139399 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139399 - Adrenomyeloneuropathy - - Clinical subtype - - - - - - - - - - 300 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300 - Bifunctional enzyme deficiency - - Disease - - - - - - - - 163684 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163684 - Leukoencephalopathy-dystonia-motor neuropathy syndrome - - Disease - - - - - - - - - - 93598 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93598 - Primary hyperoxaluria type 1 - - Clinical subtype - - - - - - - - - - 369942 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369942 - CADDS - - Disease - - - - - - - - 3276 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3276 - Disorder of plasmalogens biosynthesis - - Category - - - - - - 177 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=177 - Rhizomelic chondrodysplasia punctata - - Disease - - - - - - 309803 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309803 - Rhizomelic chondrodysplasia punctata type 3 - - Etiological subtype - - - - - - - - 309789 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309789 - Rhizomelic chondrodysplasia punctata type 1 - - Etiological subtype - - - - - - - - 309796 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309796 - Rhizomelic chondrodysplasia punctata type 2 - - Etiological subtype - - - - - - - - 468717 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=468717 - Rhizomelic chondrodysplasia punctata type 5 - - Etiological subtype - - - - - - - - - - 438178 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=438178 - Fatty acyl-CoA reductase 1 deficiency - - Disease - - - - - - - - - - 642954 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642954 - Autosomal recessive ataxia due to PEX16 deficiency - - Disease - - - - - - - - 642965 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642965 - Autosomal recessive ataxia due to PEX2 deficiency - - Disease - - - - - - - - 95433 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95433 - Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome - - Disease - - - - - - - - 247815 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247815 - Autosomal recessive ataxia due to PEX10 deficiency - - Disease - - - - - - - - - - 79062 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79062 - Disorder of amino acid and other organic acid metabolism - - Category - - - - - - 468726 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=468726 - Severe primary trimethylaminuria - - Disease - - - - - - - - 79166 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79166 - Disorder of amino acid absorption and transport - - Category - - - - - - 534 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=534 - Oculocerebrorenal syndrome of Lowe - - Malformation syndrome - - - - - - - - 214 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=214 - Cystinuria - - Disease - - - - - - 93612 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93612 - Cystinuria type A - - Etiological subtype - - - - - - - - 93613 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93613 - Cystinuria type B - - Etiological subtype - - - - - - - - - - 2195 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2195 - Dicarboxylic aminoaciduria - - Disease - - - - - - - - 470 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=470 - Lysinuric protein intolerance - - Disease - - - - - - - - 94086 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94086 - Blue diaper syndrome - - Disease - - - - - - - - 238517 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238517 - Hypotonia-cystinuria type 1 syndrome - - Clinical group - - - - - - 163690 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163690 - Hypotonia-cystinuria syndrome - - Disease - - - - - - - - 163693 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163693 - 2p21 microdeletion syndrome - - Disease - - - - - - - - 238523 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238523 - Atypical hypotonia-cystinuria syndrome - - Disease - - - - - - - - - - 308451 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308451 - Disorder of neutral amino acid transport - - Category - - - - - - 2116 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2116 - Hartnup disease - - Disease - - - - - - - - 42062 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=42062 - Iminoglycinuria - - Disease - - - - - - - - - - 363429 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363429 - Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome - - Disease - - - - - - 324262 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324262 - Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency - - Clinical subtype - - - - - - - - 363432 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363432 - Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency - - Clinical subtype - - - - - - - - - - - - 79167 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79167 - Disorder of urea cycle metabolism and ammonia detoxification - - Category - - - - - - 90 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90 - Argininemia - - Disease - - - - - - - - 23 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=23 - Argininosuccinic aciduria - - Disease - - - - - - - - 147 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=147 - Carbamoyl-phosphate synthetase 1 deficiency - - Disease - - - - - - - - 187 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=187 - Citrullinemia - - Category - - - - - - 247525 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247525 - Citrullinemia type I - - Disease - - - - - - 247546 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247546 - Acute neonatal citrullinemia type I - - Clinical subtype - - - - - - - - 247573 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247573 - Late-onset citrullinemia type I - - Clinical subtype - - - - - - - - - - 247582 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247582 - Citrin deficiency - - Category - - - - - - 247585 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247585 - Citrullinemia type II - - Disease - - - - - - - - 247598 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247598 - Neonatal intrahepatic cholestasis due to citrin deficiency - - Disease - - - - - - - - - - - - 415 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=415 - Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome - - Disease - - - - - - - - 927 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=927 - Hyperammonemia due to N-acetylglutamate synthase deficiency - - Disease - - - - - - - - 35878 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35878 - Hyperinsulinism-hyperammonemia syndrome - - Disease - - - - - - - - 401948 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401948 - Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency - - Disease - - - - - - - - 664 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=664 - Ornithine transcarbamylase deficiency - - Disease - - - - - - - - - - 79173 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79173 - Disorder of methionine cycle and sulfur amino acid metabolism - - Category - - - - - - 562538 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=562538 - Autosomal recessive extra-oral halitosis - - Disease - - - - - - - - 619979 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=619979 - Developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome - - Disease - - - - - - - - 394 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=394 - Homocystinuria due to cystathionine beta-synthase deficiency - - Disease - - - - - - - - 833 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=833 - Encephalopathy due to sulfite oxidase deficiency - - Disease - - - - - - 99731 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99731 - Isolated sulfite oxidase deficiency - - Clinical subtype - - - - - - - - 99732 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99732 - Sulfite oxidase deficiency due to molybdenum cofactor deficiency - - Clinical subtype - - - - - - 308386 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308386 - Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A - - Etiological subtype - - - - - - - - 308393 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308393 - Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B - - Etiological subtype - - - - - - - - 308400 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308400 - Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C - - Etiological subtype - - - - - - - - - - - - 212 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=212 - Cystathioninuria - - Disease - - - - - - - - 622 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=622 - Homocystinuria without methylmalonic aciduria - - Disease - - - - - - 2169 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2169 - Methylcobalamin deficiency type cblE - - Clinical subtype - - - - - - - - 2170 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2170 - Methylcobalamin deficiency type cblG - - Clinical subtype - - - - - - - - 308380 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308380 - Methylcobalamin deficiency type cblDv1 - - Clinical subtype - - - - - - - - - - 88618 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88618 - S-adenosylhomocysteine hydrolase deficiency - - Disease - - - - - - - - 168598 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168598 - Methionine adenosyltransferase I/III deficiency - - Disease - - - - - - - - 289290 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289290 - Hypermethioninemia encephalopathy due to adenosine kinase deficiency - - Disease - - - - - - - - 289891 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289891 - Hypermethioninemia due to glycine N-methyltransferase deficiency - - Disease - - - - - - - - 1035 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1035 - Beta-mercaptolactate cysteine disulfiduria - - Biological anomaly - - - - - - - - - - 79181 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79181 - Disorder of histidine metabolism - - Category - - - - - - 2157 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2157 - Histidinemia - - Disease - - - - - - - - 210128 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210128 - Urocanic aciduria - - Disease - - - - - - - - 2158 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2158 - Histidinuria-renal tubular defect syndrome - - Disease - - - - - - - - - - 79185 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79185 - Disorder of ornithine or proline metabolism - - Category - - - - - - 289866 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289866 - Disorder of proline metabolism - - Category - - - - - - 2962 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2962 - De Barsy syndrome - - Disease - - - - - - 35664 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35664 - ALDH18A1-related De Barsy syndrome - - Etiological subtype - - - - - - - - 293633 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293633 - PYCR1-related De Barsy syndrome - - Etiological subtype - - - - - - - - - - 419 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=419 - Hyperprolinemia type 1 - - Disease - - - - - - - - 79101 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79101 - Hyperprolinemia type 2 - - Disease - - - - - - - - 90350 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90350 - Autosomal recessive cutis laxa type 2 - - Clinical group - - - - - - 357058 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357058 - Autosomal recessive cutis laxa type 2A - - Disease - - - - - - 2834 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2834 - Wrinkly skin syndrome - - Clinical subtype - - - - - - - - 357074 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357074 - Autosomal recessive cutis laxa type 2, classic type - - Clinical subtype - - - - - - - - - - 357064 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357064 - Autosomal recessive cutis laxa type 2B - - Disease - - - - - - - - - - - - 289869 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289869 - Disorder of ornithine metabolism - - Category - - - - - - 414 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=414 - Gyrate atrophy of choroid and retina - - Disease - - - - - - - - 544488 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=544488 - Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome - - Disease - - - - - - - - - - - - 79187 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79187 - Disorder of peptide metabolism - - Category - - - - - - 1361 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1361 - Carnosinase deficiency - - Biological anomaly - - - - - - - - 742 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=742 - Prolidase deficiency - - Disease - - - - - - - - - - 79190 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79190 - Disorder of phenylalanin or tyrosine metabolism - - Category - - - - - - 284814 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284814 - Disorder of phenylalanine metabolism - - Category - - - - - - 716 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=716 - Phenylketonuria - - Disease - - - - - - 79253 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79253 - Mild phenylketonuria - - Clinical subtype - - - - - - - - 79254 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79254 - Classic phenylketonuria - - Clinical subtype - - - - - - - - 79651 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79651 - Mild hyperphenylalaninemia - - Clinical subtype - - - - - - - - 293284 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293284 - Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria - - Clinical subtype - - - - - - - - - - 2209 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2209 - Maternal phenylketonuria syndrome - - Malformation syndrome - - - - - - - - - - 284818 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284818 - Disorder of tyrosine metabolism - - Category - - - - - - 56 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=56 - Alkaptonuria - - Disease - - - - - - - - 2118 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2118 - Hawkinsinuria - - Disease - - - - - - - - 3402 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3402 - Transient tyrosinemia of the newborn - - Disease - - - - - - - - 882 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=882 - Tyrosinemia type 1 - - Disease - - - - - - - - 28378 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=28378 - Tyrosinemia type 2 - - Disease - - - - - - - - 69723 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69723 - Tyrosinemia type 3 - - Disease - - - - - - - - 101150 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101150 - Autosomal recessive dopa-responsive dystonia - - Disease - - - - - - - - - - - - 79194 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79194 - Disorder of serine or glycine metabolism - - Category - - - - - - 3129 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3129 - Sarcosinemia - - Disease - - - - - - - - 407 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=407 - Glycine encephalopathy - - Disease - - - - - - 289857 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289857 - Neonatal glycine encephalopathy - - Clinical subtype - - - - - - - - 289860 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289860 - Infantile glycine encephalopathy - - Clinical subtype - - - - - - - - 289863 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289863 - Atypical glycine encephalopathy - - Clinical subtype - - - - - - - - - - 35705 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35705 - Neurometabolic disorder due to serine deficiency - - Category - - - - - - 2671 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2671 - Neu-Laxova syndrome - - Malformation syndrome - - - - - - 583602 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=583602 - Neu-Laxova syndrome due to phosphoserine aminotransferase deficiency - - Etiological subtype - - - - - - - - 583607 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=583607 - Neu-Laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency - - Etiological subtype - - - - - - - - 583612 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=583612 - Neu-Laxova syndrome due to 3-phosphoserine phosphatase deficiency - - Etiological subtype - - - - - - - - - - 447997 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447997 - Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome - - Disease - - - - - - - - 583595 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=583595 - Serine biosynthesis pathway deficiency, infantile/juvenile form - - Disease - - - - - - 79351 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79351 - 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form - - Etiological subtype - - - - - - - - 79350 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79350 - 3-phosphoserine phosphatase deficiency, infantile/juvenile form - - Etiological subtype - - - - - - - - 284417 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284417 - Phosphoserine aminotransferase deficiency, infantile/juvenile form - - Etiological subtype - - - - - - - - - - - - 243343 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=243343 - Dimethylglycine dehydrogenase deficiency - - Disease - - - - - - - - - - 79196 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79196 - Disorder of the gamma-glutamyl cycle - - Category - - - - - - 32 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=32 - Glutathione synthetase deficiency - - Disease - - - - - - 289846 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289846 - Glutathione synthetase deficiency with 5-oxoprolinuria - - Clinical subtype - - - - - - - - 289849 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289849 - Glutathione synthetase deficiency without 5-oxoprolinuria - - Clinical subtype - - - - - - - - - - 33572 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33572 - 5-oxoprolinase deficiency - - Disease - - - - - - - - 33573 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33573 - Gamma-glutamyl transpeptidase deficiency - - Disease - - - - - - - - 33574 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33574 - Glutamate-cysteine ligase deficiency - - Disease - - - - - - - - - - 79197 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79197 - Disorder of branched-chain amino acid metabolism - - Category - - - - - - 511 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=511 - Maple syrup urine disease - - Disease - - - - - - 268145 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268145 - Classic maple syrup urine disease - - Clinical subtype - - - - - - - - 268162 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268162 - Intermediate maple syrup urine disease - - Clinical subtype - - - - - - - - 268173 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268173 - Intermittent maple syrup urine disease - - Clinical subtype - - - - - - - - 268184 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268184 - Thiamine-responsive maple syrup urine disease - - Clinical subtype - - - - - - - - - - 289307 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289307 - Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency - - Disease - - - - - - - - 308410 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308410 - Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency - - Disease - - - - - - - - 401948 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401948 - Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency - - Disease - - - - - - - - - - 289829 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289829 - Disorder of tryptophan metabolism - - Category - - - - - - 2224 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2224 - Hypertryptophanemia - - Disease - - - - - - - - 79155 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79155 - Hydroxykynureninuria - - Disease - - - - - - - - - - 289832 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289832 - Disorder of lysine and hydroxylysine metabolism - - Category - - - - - - 2203 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2203 - Hyperlysinemia - - Disease - - - - - - - - 3124 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3124 - Saccharopinuria - - Disease - - - - - - - - 79154 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79154 - 2-aminoadipic 2-oxoadipic aciduria - - Disease - - - - - - - - 79156 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79156 - Seizures-intellectual disability due to hydroxylysinuria syndrome - - Disease - - - - - - - - - - 289841 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289841 - Disorder of glutamine metabolism - - Category - - - - - - 557056 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=557056 - Spastic ataxia-dysarthria due to glutaminase deficiency - - Disease - - - - - - - - 557064 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=557064 - Neonatal epileptic encephalopathy due to glutaminase deficiency - - Disease - - - - - - - - 71278 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71278 - Congenital brain dysgenesis due to glutamine synthetase deficiency - - Disease - - - - - - - - - - 289899 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289899 - Organic aciduria - - Category - - - - - - 79158 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79158 - Cerebral organic aciduria - - Category - - - - - - 653880 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=653880 - Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency - - Disease - - - - - - - - 19 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=19 - 2-hydroxyglutaric aciduria - - Clinical group - - - - - - 79314 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79314 - L-2-hydroxyglutaric aciduria - - Disease - - - - - - - - 79315 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79315 - D-2-hydroxyglutaric aciduria - - Disease - - - - - - - - 356978 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=356978 - D,L-2-hydroxyglutaric aciduria - - Disease - - - - - - - - - - 25 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=25 - Glutaryl-CoA dehydrogenase deficiency - - Disease - - - - - - - - 308448 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308448 - Aminoacylase deficiency - - Clinical group - - - - - - 141 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141 - Canavan disease - - Disease - - - - - - 314911 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314911 - Severe Canavan disease - - Clinical subtype - - - - - - - - 314918 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314918 - Mild Canavan disease - - Clinical subtype - - - - - - - - - - 137754 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137754 - Aminoacylase 1 deficiency - - Disease - - - - - - - - - - 391417 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391417 - HSD10 disease - - Disease - - - - - - 85295 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85295 - HSD10 disease, atypical type - - Clinical subtype - - - - - - - - 391428 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391428 - HSD10 disease, infantile type - - Clinical subtype - - - - - - - - 391457 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391457 - HSD10 disease, neonatal type - - Clinical subtype - - - - - - - - - - - - 79163 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79163 - Classic organic aciduria - - Category - - - - - - 33 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33 - Isovaleric acidemia - - Disease - - - - - - - - 148 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=148 - Multiple carboxylase deficiency - - Clinical group - - - - - - - - 26 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=26 - Methylmalonic acidemia with homocystinuria - - Disease - - - - - - 79282 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79282 - Methylmalonic acidemia with homocystinuria, type cblC - - Clinical subtype - - - - - - - - 79283 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79283 - Methylmalonic acidemia with homocystinuria, type cblD - - Clinical subtype - - - - - - - - 79284 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79284 - Methylmalonic acidemia with homocystinuria type cblF - - Clinical subtype - - - - - - - - 369955 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369955 - Methylmalonic acidemia with homocystinuria, type cblJ - - Clinical subtype - - - - - - - - 369962 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369962 - Methylmalonic acidemia with homocystinuria, type cblX - - Clinical subtype - - - - - - - - - - 134 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=134 - Beta-ketothiolase deficiency - - Disease - - - - - - - - 939 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=939 - 3-hydroxyisobutyric aciduria - - Disease - - - - - - - - 20 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=20 - 3-hydroxy-3-methylglutaric aciduria - - Disease - - - - - - - - 6 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=6 - 3-methylcrotonyl-CoA carboxylase deficiency - - Disease - - - - - - - - 35 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35 - Propionic acidemia - - Disease - - - - - - - - 79157 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79157 - 2-methylbutyryl-CoA dehydrogenase deficiency - - Disease - - - - - - - - 79159 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79159 - Isobutyryl-CoA dehydrogenase deficiency - - Disease - - - - - - - - 88639 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88639 - Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency - - Disease - - - - - - - - 289504 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289504 - Combined malonic and methylmalonic acidemia - - Disease - - - - - - - - 289902 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289902 - 3-methylglutaconic aciduria - - Clinical group - - - - - - 505208 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=505208 - 3-methylglutaconic aciduria type 8 - - Disease - - - - - - - - 111 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=111 - Barth syndrome - - Disease - - - - - - - - 66634 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66634 - Dilated cardiomyopathy with ataxia - - Disease - - - - - - - - 67046 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=67046 - 3-methylglutaconic aciduria type 1 - - Disease - - - - - - - - 67047 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=67047 - 3-methylglutaconic aciduria type 3 - - Disease - - - - - - - - 67048 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=67048 - 3-methylglutaconic aciduria type 4 - - Disease - - - - - - - - 352328 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352328 - MEGDEL syndrome - - Disease - - - - - - - - 445038 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=445038 - 3-methylglutaconic aciduria-neonatal cataract-neurologic involvement-congenital neutropenia syndrome - - Disease - - - - - - - - 505216 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=505216 - 3-methylglutaconic aciduria type 9 - - Disease - - - - - - - - - - 293355 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293355 - Methylmalonic acidemia without homocystinuria - - Clinical group - - - - - - 27 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=27 - Vitamin B12-unresponsive methylmalonic acidemia - - Disease - - - - - - 79312 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79312 - Vitamin B12-unresponsive methylmalonic acidemia type mut- - - Clinical subtype - - - - - - - - 289916 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289916 - Vitamin B12-unresponsive methylmalonic acidemia type mut0 - - Clinical subtype - - - - - - - - - - 28 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=28 - Vitamin B12-responsive methylmalonic acidemia - - Disease - - - - - - 79310 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79310 - Vitamin B12-responsive methylmalonic acidemia type cblA - - Clinical subtype - - - - - - - - 79311 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79311 - Vitamin B12-responsive methylmalonic acidemia type cblB - - Clinical subtype - - - - - - - - 308442 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308442 - Vitamin B12-responsive methylmalonic acidemia, type cblDv2 - - Clinical subtype - - - - - - - - - - 308425 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308425 - Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency - - Disease - - - - - - - - - - - - - - 308407 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308407 - Disorder of beta and omega amino acid metabolism - - Category - - - - - - 2066 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2066 - Gamma-aminobutyric acid transaminase deficiency - - Disease - - - - - - - - - - 352728 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352728 - Disorder of melanin metabolism - - Category - - - - - - 55 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=55 - Oculocutaneous albinism - - Clinical group - - - - - - 79432 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79432 - Oculocutaneous albinism type 2 - - Disease - - - - - - - - 79433 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79433 - Oculocutaneous albinism type 3 - - Disease - - - - - - - - 79435 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79435 - Oculocutaneous albinism type 4 - - Disease - - - - - - - - 352731 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352731 - Oculocutaneous albinism type 1 - - Disease - - - - - - 79431 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79431 - Oculocutaneous albinism type 1A - - Clinical subtype - - - - - - - - 79434 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79434 - Oculocutaneous albinism type 1B - - Clinical subtype - - - - - - - - 352734 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352734 - Minimal pigment oculocutaneous albinism type 1 - - Clinical subtype - - - - - - - - 352737 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352737 - Temperature-sensitive oculocutaneous albinism type 1 - - Clinical subtype - - - - - - - - - - 352745 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352745 - Oculocutaneous albinism type 7 - - Disease - - - - - - - - 370091 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370091 - Oculocutaneous albinism type 5 - - Disease - - - - - - - - 370097 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370097 - Oculocutaneous albinism type 6 - - Disease - - - - - - - - 597733 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=597733 - Oculocutaneous albinism type 8 - - Disease - - - - - - - - - - 284804 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284804 - Ocular albinism - - Clinical group - - - - - - 1000 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1000 - Ocular albinism with late-onset sensorineural deafness - - Disease - - - - - - - - 54 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=54 - X-linked recessive ocular albinism - - Disease - - - - - - - - - - - - 391381 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391381 - Disorder of asparagine metabolism - - Category - - - - - - 391376 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391376 - Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome - - Disease - - - - - - - - - - - - 79161 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79161 - Disorder of carbohydrate metabolism - - Category - - - - - - 79177 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79177 - Gluconeogenesis disorder - - Category - - - - - - 348 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=348 - Fructose-1,6-bisphosphatase deficiency - - Disease - - - - - - - - 2880 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2880 - Phosphoenolpyruvate carboxykinase deficiency - - Disease - - - - - - - - 3008 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3008 - Pyruvate carboxylase deficiency - - Disease - - - - - - 353308 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353308 - Pyruvate carboxylase deficiency, infantile type - - Clinical subtype - - - - - - - - 353314 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353314 - Pyruvate carboxylase deficiency, severe neonatal type - - Clinical subtype - - - - - - - - 353320 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353320 - Pyruvate carboxylase deficiency, benign type - - Clinical subtype - - - - - - - - - - 401948 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401948 - Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency - - Disease - - - - - - - - - - 79179 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79179 - Disorder of glycerol metabolism - - Category - - - - - - 308993 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308993 - Glycerol kinase deficiency - - Clinical group - - - - - - 408 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=408 - Isolated glycerol kinase deficiency - - Disease - - - - - - 284411 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284411 - Glycerol kinase deficiency, juvenile form - - Clinical subtype - - - - - - - - 284414 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284414 - Glycerol kinase deficiency, adult form - - Clinical subtype - - - - - - - - - - 261476 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261476 - Xp21 deletion syndrome - - Disease - - - - - - - - - - - - 79201 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79201 - Glycogen storage disease - - Category - - - - - - 365 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=365 - Glycogen storage disease due to acid maltase deficiency - - Disease - - - - - - 308552 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308552 - Glycogen storage disease due to acid maltase deficiency, infantile onset - - Clinical subtype - - - - - - - - 420429 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420429 - Glycogen storage disease due to acid maltase deficiency, late-onset - - Clinical subtype - - - - - - - - - - 366 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=366 - Glycogen storage disease due to glycogen debranching enzyme deficiency - - Disease - - - - - - - - 367 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=367 - Glycogen storage disease due to glycogen branching enzyme deficiency - - Disease - - - - - - 206583 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206583 - Adult polyglucosan body disease - - Clinical subtype - - - - - - - - 308621 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308621 - Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form - - Clinical subtype - - - - - - - - 308638 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308638 - Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form - - Clinical subtype - - - - - - - - 308655 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308655 - Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form - - Clinical subtype - - - - - - - - 308670 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308670 - Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form - - Clinical subtype - - - - - - - - 308684 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308684 - Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form - - Clinical subtype - - - - - - - - 308698 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308698 - Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form - - Clinical subtype - - - - - - - - 308712 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308712 - Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form - - Clinical subtype - - - - - - - - - - 368 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=368 - Glycogen storage disease due to muscle glycogen phosphorylase deficiency - - Disease - - - - - - - - 369 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369 - Glycogen storage disease due to liver glycogen phosphorylase deficiency - - Disease - - - - - - - - 371 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=371 - Glycogen storage disease due to muscle phosphofructokinase deficiency - - Disease - - - - - - - - 370 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370 - Glycogen storage disease due to phosphorylase kinase deficiency - - Clinical group - - - - - - 715 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=715 - Glycogen storage disease due to muscle phosphorylase kinase deficiency - - Disease - - - - - - - - 79240 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79240 - Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency - - Disease - - - - - - - - 264580 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=264580 - Glycogen storage disease due to liver phosphorylase kinase deficiency - - Disease - - - - - - - - - - 364 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=364 - Glycogen storage disease due to glucose-6-phosphatase deficiency - - Disease - - - - - - 79258 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79258 - Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia - - Clinical subtype - - - - - - - - 79259 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79259 - Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib - - Clinical subtype - - - - - - - - - - 57 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=57 - Glycogen storage disease due to aldolase A deficiency - - Disease - - - - - - - - 713 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=713 - Glycogen storage disease due to phosphoglycerate kinase 1 deficiency - - Disease - - - - - - - - 2088 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2088 - Fanconi-Bickel syndrome - - Disease - - - - - - - - 2364 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2364 - Glycogen storage disease due to lactate dehydrogenase deficiency - - Disease - - - - - - 284426 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284426 - Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency - - Clinical subtype - - - - - - - - 284435 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284435 - Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency - - Clinical subtype - - - - - - - - - - 34587 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=34587 - Danon disease - - Disease - - - - - - - - 97234 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97234 - Glycogen storage disease due to phosphoglycerate mutase deficiency - - Disease - - - - - - - - 99849 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99849 - Glycogen storage disease due to muscle beta-enolase deficiency - - Disease - - - - - - - - 263297 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263297 - Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency - - Disease - - - - - - - - 308520 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308520 - Glycogen storage disease due to glycogen synthase deficiency - - Clinical group - - - - - - 2089 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2089 - Glycogen storage disease due to hepatic glycogen synthase deficiency - - Disease - - - - - - - - 137625 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137625 - Glycogen storage disease due to muscle and heart glycogen synthase deficiency - - Disease - - - - - - - - - - 397937 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397937 - Polyglucosan body myopathy type 1 - - Disease - - - - - - - - 439854 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439854 - Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease - - Disease - - - - - - - - 319646 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319646 - PGM1-CDG - - Disease - - - - - - - - 456369 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=456369 - Polyglucosan body myopathy type 2 - - Disease - - - - - - - - - - 308459 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308459 - Disorder of glycolysis - - Category - - - - - - 868 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=868 - Triose phosphate-isomerase deficiency - - Disease - - - - - - - - 712 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=712 - Hemolytic anemia due to glucophosphate isomerase deficiency - - Disease - - - - - - - - 79299 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79299 - Congenital glucokinase-related hyperinsulinism - - Disease - - - - - - - - - - 308463 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308463 - Disorder of fructose metabolism - - Category - - - - - - 469 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=469 - Hereditary fructose intolerance - - Disease - - - - - - - - 348 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=348 - Fructose-1,6-bisphosphatase deficiency - - Disease - - - - - - - - 2056 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2056 - Essential fructosuria - - Disease - - - - - - - - - - 308467 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308467 - Disorder of galactose metabolism - - Category - - - - - - 352 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352 - Galactosemia - - Category - - - - - - 79237 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79237 - Galactokinase deficiency - - Disease - - - - - - - - 79238 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79238 - Galactose epimerase deficiency - - Disease - - - - - - 308473 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308473 - Erythrocyte galactose epimerase deficiency - - Clinical subtype - - - - - - - - 308487 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308487 - Generalized galactose epimerase deficiency - - Clinical subtype - - - - - - - - - - 79239 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79239 - Classic galactosemia - - Disease - - - - - - - - 570422 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=570422 - Galactose mutarotase deficiency - - Disease - - - - - - - - - - - - 308998 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308998 - Disorder of glyoxylate metabolism - - Category - - - - - - 941 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=941 - D-glyceric aciduria - - Disease - - - - - - - - 416 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=416 - Primary hyperoxaluria - - Disease - - - - - - 93598 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93598 - Primary hyperoxaluria type 1 - - Clinical subtype - - - - - - - - 93599 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93599 - Primary hyperoxaluria type 2 - - Clinical subtype - - - - - - - - 93600 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93600 - Primary hyperoxaluria type 3 - - Clinical subtype - - - - - - - - - - - - 309001 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309001 - Disorder of carbohydrate absorption and transport - - Category - - - - - - 469 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=469 - Hereditary fructose intolerance - - Disease - - - - - - - - 35122 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35122 - Congenital sucrase-isomaltase deficiency - - Disease - - - - - - - - 53690 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53690 - Congenital lactase deficiency - - Disease - - - - - - - - 79178 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79178 - Glucose transport disorder - - Category - - - - - - 2088 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2088 - Fanconi-Bickel syndrome - - Disease - - - - - - - - 35710 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35710 - Glucose-galactose malabsorption - - Disease - - - - - - - - 69076 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69076 - Familial renal glucosuria - - Disease - - - - - - - - 71277 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71277 - Classic glucose transporter type 1 deficiency syndrome - - Disease - - - - - - - - - - 103907 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=103907 - Chronic diarrhea due to glucoamylase deficiency - - Disease - - - - - - - - 103909 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=103909 - Trehalase deficiency - - Disease - - - - - - - - 165991 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=165991 - Exercise-induced hyperinsulinism - - Disease - - - - - - - - 247794 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247794 - Juvenile cataract-microcornea-renal glucosuria syndrome - - Disease - - - - - - - - - - 440701 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=440701 - Disorders of pentose/polyol metabolism - - Category - - - - - - 2843 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2843 - Pentosuria - - Disease - - - - - - - - 79186 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79186 - Disorder of pentose phosphate metabolism - - Category - - - - - - 488618 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488618 - Transketolase deficiency - - Malformation syndrome - - - - - - - - 101028 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101028 - Transaldolase deficiency - - Disease - - - - - - - - 440706 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=440706 - Ribose-5-P isomerase deficiency - - Disease - - - - - - - - 440713 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=440713 - Isolated sedoheptulokinase deficiency - - Disease - - - - - - - - - - - - - - 79200 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79200 - Disorder of energy metabolism - - Category - - - - - - 68380 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=68380 - Mitochondrial disease - - Category - - - - - - 223713 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=223713 - Mitochondrial oxidative phosphorylation disorder - - Category - - - - - - 2443 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2443 - Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies - - Category - - - - - - 527276 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=527276 - Encephalopathy due to mitochondrial and peroxisomal fission defect - - Disease - - - - - - 330050 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=330050 - DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect - - Etiological subtype - - - - - - - - 485421 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=485421 - MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect - - Etiological subtype - - - - - - - - - - 611237 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=611237 - Parkinsonism with polyneuropathy - - Disease - - - - - - - - 506 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=506 - Leigh syndrome - - Disease - - - - - - - - 1561 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1561 - Fatal infantile cytochrome C oxidase deficiency - - Disease - - - - - - - - 35656 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35656 - Coenzyme Q10 deficiency - - Clinical group - - - - - - 139485 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139485 - Autosomal recessive ataxia due to ubiquinone deficiency - - Disease - - - - - - - - 254898 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254898 - Deafness-encephaloneuropathy-obesity-valvulopathy syndrome - - Disease - - - - - - - - 280406 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280406 - Familial steroid-resistant nephrotic syndrome with sensorineural deafness - - Disease - - - - - - - - 319678 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319678 - Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome - - Disease - - - - - - - - 457185 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457185 - Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome - - Disease - - - - - - - - 658778 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=658778 - COQ7-related distal hereditary motor neuropathy - - Disease - - - - - - - - - - 35696 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35696 - Mitochondrial disorder due to a defect in mitochondrial protein synthesis - - Category - - - - - - 2598 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2598 - Mitochondrial myopathy and sideroblastic anemia - - Disease - - - - - - - - 2855 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2855 - Perrault syndrome - - Disease - - - - - - 642945 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642945 - Perrault syndrome type 1 - - Clinical subtype - - - - - - - - 642976 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642976 - Perrault syndrome type 2 - - Clinical subtype - - - - - - - - - - 99013 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99013 - Spastic paraplegia type 7 - - Disease - - - - - - - - 101109 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101109 - Spinocerebellar ataxia type 28 - - Disease - - - - - - - - 137681 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137681 - Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 - - Disease - - - - - - - - 137898 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137898 - Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome - - Disease - - - - - - - - 137908 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137908 - Hypotonia with lactic acidemia and hyperammonemia - - Disease - - - - - - - - 166073 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166073 - Pontocerebellar hypoplasia type 6 - - Malformation syndrome - - - - - - - - 168566 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168566 - Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 - - Disease - - - - - - - - 217371 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217371 - Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins - - Disease - - - - - - - - 238329 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238329 - Severe X-linked mitochondrial encephalomyopathy - - Disease - - - - - - - - 254343 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254343 - Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome - - Disease - - - - - - - - 254920 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254920 - Combined oxidative phosphorylation defect type 2 - - Disease - - - - - - - - 254925 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254925 - Combined oxidative phosphorylation defect type 4 - - Disease - - - - - - - - 314051 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314051 - Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome - - Disease - - - - - - - - 314603 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314603 - Autosomal recessive spastic ataxia with leukoencephalopathy - - Disease - - - - - - - - 314637 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314637 - Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency - - Disease - - - - - - - - 319504 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319504 - Combined oxidative phosphorylation defect type 8 - - Disease - - - - - - - - 319509 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319509 - Combined oxidative phosphorylation defect type 9 - - Disease - - - - - - - - 319514 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319514 - Combined oxidative phosphorylation defect type 13 - - Disease - - - - - - - - 319519 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319519 - Combined oxidative phosphorylation defect type 14 - - Disease - - - - - - - - 319524 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319524 - Combined oxidative phosphorylation defect type 15 - - Disease - - - - - - - - 324535 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324535 - Combined oxidative phosphorylation defect type 11 - - Disease - - - - - - - - 352563 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352563 - Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency - - Disease - - - - - - - - 363694 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363694 - Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome - - Disease - - - - - - - - 369913 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369913 - Combined oxidative phosphorylation defect type 17 - - Disease - - - - - - - - 420728 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420728 - Combined oxidative phosphorylation defect type 20 - - Disease - - - - - - - - 420733 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420733 - Combined oxidative phosphorylation defect type 21 - - Disease - - - - - - - - 436174 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436174 - Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome - - Disease - - - - - - - - 444013 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444013 - Combined oxidative phosphorylation defect type 23 - - Disease - - - - - - - - 444458 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444458 - Combined oxidative phosphorylation defect type 24 - - Disease - - - - - - - - 447954 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447954 - Combined oxidative phosphorylation defect type 25 - - Disease - - - - - - - - 565624 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=565624 - Combined oxidative phosphorylation defect type 39 - - Disease - - - - - - - - 528091 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=528091 - Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome - - Disease - - - - - - - - 457223 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457223 - Syndromic sensorineural deafness due to combined oxidative phosphorylation defect - - Disease - - - - - - - - 478042 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=478042 - Combined oxidative phosphorylation defect type 30 - - Disease - - - - - - - - 466784 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466784 - Neonatal severe cardiopulmonary failure due to mitochondrial methylation defect - - Disease - - - - - - - - 477774 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477774 - Combined oxidative phosphorylation defect type 27 - - Disease - - - - - - - - 497623 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=497623 - C12ORF65-related combined oxidative phosphorylation defect - - Clinical group - - - - - - 254930 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254930 - Combined oxidative phosphorylation defect type 7 - - Disease - - - - - - - - 320375 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=320375 - Autosomal recessive spastic paraplegia type 55 - - Disease - - - - - - - - - - 477684 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477684 - Combined oxidative phosphorylation defect type 26 - - Disease - - - - - - - - 466722 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466722 - Autosomal recessive spastic paraplegia type 77 - - Disease - - - - - - - - 478029 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=478029 - Combined oxidative phosphorylation defect type 29 - - Disease - - - - - - - - 570491 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=570491 - QRSL1-related combined oxidative phosphorylation defect - - Disease - - - - - - - - 572798 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572798 - WARS2-related combined oxidative phosphorylation defect - - Disease - - - - - - - - - - 199337 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199337 - Pancreatic insufficiency-anemia-hyperostosis syndrome - - Disease - - - - - - - - 254822 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254822 - Mitochondrial oxidative phosphorylation disorder with no known mechanism - - Category - - - - - - 50812 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50812 - Zellweger-like syndrome without peroxisomal anomalies - - Disease - - - - - - - - 67036 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=67036 - Autosomal dominant optic atrophy and cataract - - Disease - - - - - - - - 98673 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98673 - Autosomal dominant optic atrophy, classic form - - Disease - - - - - - - - 166105 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166105 - FASTKD2-related infantile mitochondrial encephalomyopathy - - Disease - - - - - - - - 227976 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=227976 - Autosomal recessive optic atrophy, OPA7 type - - Disease - - - - - - - - 250932 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=250932 - Autosomal dominant optic atrophy and peripheral neuropathy - - Disease - - - - - - - - 391348 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391348 - Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome - - Disease - - - - - - - - 436271 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436271 - Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy - - Disease - - - - - - - - 457050 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457050 - Autosomal dominant mitochondrial myopathy with exercise intolerance - - Disease - - - - - - - - - - 309136 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309136 - Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes - - Category - - - - - - 543470 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=543470 - Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome - - Disease - - - - - - - - 1194 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1194 - TMEM70-related mitochondrial encephalo-cardio-myopathy - - Disease - - - - - - - - 123 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=123 - Björnstad syndrome - - Disease - - - - - - - - 53693 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53693 - GRACILE syndrome - - Disease - - - - - - - - 254843 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254843 - Exercise intolerance with lactic acidosis - - Clinical group - - - - - - 43115 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=43115 - Hereditary myopathy with lactic acidosis due to ISCU deficiency - - Disease - - - - - - - - 99901 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99901 - Acyl-CoA dehydrogenase 9 deficiency - - Disease - - - - - - - - - - 254902 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254902 - Renal tubulopathy-encephalopathy-liver failure syndrome - - Disease - - - - - - - - 289573 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289573 - Multiple mitochondrial dysfunctions syndrome - - Clinical group - - - - - - 569274 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=569274 - Multiple mitochondrial dysfunctions syndrome type 5 - - Disease - - - - - - - - 569290 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=569290 - Multiple mitochondrial dysfunctions syndrome type 6 - - Disease - - - - - - - - 363424 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363424 - Multiple mitochondrial dysfunctions syndrome type 3 - - Disease - - - - - - - - 401869 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401869 - Multiple mitochondrial dysfunctions syndrome type 1 - - Disease - - - - - - - - 401874 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401874 - Multiple mitochondrial dysfunctions syndrome type 2 - - Disease - - - - - - - - 457406 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457406 - Multiple mitochondrial dysfunctions syndrome type 4 - - Disease - - - - - - - - - - 352328 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352328 - MEGDEL syndrome - - Disease - - - - - - - - 397593 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397593 - Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency - - Disease - - - - - - - - 542585 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=542585 - Auditory neuropathy-optic atrophy syndrome - - Disease - - - - - - - - - - 330054 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=330054 - Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome - - Disease - - - - - - - - 352456 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352456 - Mitochondrial DNA maintenance syndrome - - Category - - - - - - 298 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=298 - Mitochondrial neurogastrointestinal encephalomyopathy - - Disease - - - - - - - - 35698 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35698 - Mitochondrial DNA depletion syndrome - - Category - - - - - - 254803 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254803 - Mitochondrial DNA depletion syndrome, encephalomyopathic form - - Clinical group - - - - - - 1933 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1933 - Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria - - Disease - - - - - - - - 17 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=17 - Fatal infantile lactic acidosis with methylmalonic aciduria - - Disease - - - - - - - - 255235 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=255235 - Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy - - Disease - - - - - - - - 369897 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369897 - Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies - - Disease - - - - - - - - - - 254871 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254871 - Mitochondrial DNA depletion syndrome, hepatocerebral form - - Clinical group - - - - - - 1186 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1186 - Infantile-onset spinocerebellar ataxia - - Disease - - - - - - - - 726 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=726 - Alpers-Huttenlocher syndrome - - Disease - - - - - - - - 255229 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=255229 - Navajo neurohepatopathy - - Disease - - - - - - - - 279934 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=279934 - Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency - - Disease - - - - - - - - 363534 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363534 - Mitochondrial DNA depletion syndrome, hepatocerebrorenal form - - Disease - - - - - - - - - - 254875 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254875 - Mitochondrial DNA depletion syndrome, myopathic form - - Disease - - - - - - - - 313772 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313772 - Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome - - Disease - - - - - - - - - - 254807 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254807 - Multiple mitochondrial DNA deletion syndrome - - Category - - - - - - 1215 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1215 - Autosomal dominant optic atrophy plus syndrome - - Disease - - - - - - - - 254818 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254818 - Ataxia neuropathy spectrum - - Clinical group - - - - - - 70595 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70595 - Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome - - Disease - - - - - - - - 94125 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94125 - Recessive mitochondrial ataxia syndrome - - Disease - - - - - - - - 254881 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254881 - Spinocerebellar ataxia with epilepsy - - Disease - - - - - - - - - - 254886 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254886 - Autosomal recessive progressive external ophthalmoplegia - - Disease - - - - - - - - 254892 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254892 - Autosomal dominant progressive external ophthalmoplegia - - Disease - - - - - - - - 329314 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329314 - Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency - - Disease - - - - - - - - 352470 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352470 - DNA2-related mitochondrial DNA deletion syndrome - - Disease - - - - - - - - - - 352447 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352447 - Progressive external ophthalmoplegia-myopathy-emaciation syndrome - - Disease - - - - - - - - - - 391351 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391351 - SURF1-related Charcot-Marie-Tooth disease type 4 - - Disease - - - - - - - - 435998 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435998 - Autosomal recessive intermediate Charcot-Marie-Tooth disease type D - - Disease - - - - - - - - 478049 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=478049 - Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome - - Disease - - - - - - - - 70472 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70472 - Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type - - Disease - - - - - - - - - - 254758 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254758 - Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies - - Category - - - - - - 254767 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254767 - Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA - - Category - - - - - - 480 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480 - Kearns-Sayre syndrome - - Disease - - - - - - - - 699 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699 - Pearson syndrome - - Disease - - - - - - - - 663 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=663 - Mitochondrial DNA-related progressive external ophthalmoplegia - - Disease - - - - - - - - 1670 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1670 - Chronic diarrhea with villous atrophy - - Disease - - - - - - - - 329336 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329336 - Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy - - Disease - - - - - - - - - - 254776 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254776 - Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA - - Category - - - - - - 550 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=550 - MELAS - - Disease - - - - - - - - 551 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=551 - MERRF - - Disease - - - - - - - - 104 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=104 - Leber hereditary optic neuropathy - - Disease - - - - - - - - 644 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=644 - NARP syndrome - - Disease - - - - - - - - 90641 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90641 - Rare mitochondrial non-syndromic sensorineural deafness - - Etiological subtype - - - - - - - - 99718 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99718 - Leber plus disease - - Disease - - - - - - - - 620371 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=620371 - Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation - - Disease - - - - - - - - 254788 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254788 - Mitochondrial DNA-related mitochondrial myopathy - - Clinical group - - - - - - 2596 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2596 - Myopathy and diabetes mellitus - - Disease - - - - - - - - 254854 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254854 - Pure mitochondrial myopathy - - Disease - - - - - - - - 254857 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254857 - Lethal infantile mitochondrial myopathy - - Disease - - - - - - - - 254864 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254864 - Mitochondrial myopathy with reversible cytochrome C oxidase deficiency - - Disease - - - - - - - - - - 254851 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254851 - Mitochondrial DNA-related dystonia - - Disease - - - - - - - - 255210 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=255210 - Mitochondrial DNA-associated Leigh syndrome - - Disease - - - - - - - - 324525 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324525 - Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation - - Disease - - - - - - - - 397750 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397750 - Periodic paralysis with later-onset distal motor neuropathy - - Disease - - - - - - - - 1349 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1349 - Mitochondrial DNA-related cardiomyopathy and hearing loss - - Malformation syndrome - - - - - - - - - - - - 254846 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254846 - Isolated oxidative phosphorylation complex disorder - - Category - - - - - - 2609 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2609 - Isolated complex I deficiency - - Disease - - - - - - - - 3208 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3208 - Isolated succinate-CoQ reductase deficiency - - Disease - - - - - - - - 1460 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1460 - Isolated complex III deficiency - - Disease - - - - - - - - 254905 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254905 - Isolated cytochrome C oxidase deficiency - - Disease - - - - - - - - 254913 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254913 - Isolated ATP synthase deficiency - - Disease - - - - - - - - - - - - 254827 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254827 - Mitochondrial membrane transport disorder - - Category - - - - - - 254830 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254830 - Mitochondrial substrate carrier disorder - - Category - - - - - - 1369 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1369 - Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome - - Disease - - - - - - - - 91130 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91130 - Cardiomyopathy-hypotonia-lactic acidosis syndrome - - Disease - - - - - - - - 255132 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=255132 - Adult-onset autosomal recessive sideroblastic anemia - - Disease - - - - - - - - 353217 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353217 - Epileptic encephalopathy with global cerebral demyelination - - Disease - - - - - - - - 466784 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466784 - Neonatal severe cardiopulmonary failure due to mitochondrial methylation defect - - Disease - - - - - - - - - - 254834 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254834 - Mitochondrial protein import disorder - - Category - - - - - - 52368 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52368 - Mohr-Tranebjaerg syndrome - - Disease - - - - - - - - - - - - 254837 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254837 - Unspecified mitochondrial disorder - - Clinical group - - - - - - 496790 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=496790 - Ocular anomalies-axonal neuropathy-developmental delay syndrome - - Disease - - - - - - - - 502423 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=502423 - Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome - - Disease - - - - - - - - 656279 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=656279 - 1p36.33 duplication syndrome - - Disease - - - - - - - - 2802 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2802 - X-linked sideroblastic anemia and spinocerebellar ataxia - - Disease - - - - - - - - 51188 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=51188 - Ethylmalonic encephalopathy - - Disease - - - - - - - - 98672 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98672 - Autosomal dominant optic atrophy - - Clinical group - - - - - - 1215 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1215 - Autosomal dominant optic atrophy plus syndrome - - Disease - - - - - - - - 67036 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=67036 - Autosomal dominant optic atrophy and cataract - - Disease - - - - - - - - 98673 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98673 - Autosomal dominant optic atrophy, classic form - - Disease - - - - - - - - 250932 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=250932 - Autosomal dominant optic atrophy and peripheral neuropathy - - Disease - - - - - - - - - - 137675 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137675 - Histiocytoid cardiomyopathy - - Disease - - - - - - - - 2597 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2597 - Mitochondrial myopathy-lactic acidosis-deafness syndrome - - Disease - - - - - - - - - - 401854 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401854 - Lipoic acid biosynthesis defect - - Category - - - - - - 2394 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2394 - Pyruvate dehydrogenase E3 deficiency - - Clinical subtype - - - - - - - - 289573 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289573 - Multiple mitochondrial dysfunctions syndrome - - Clinical group - - - - - - 569274 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=569274 - Multiple mitochondrial dysfunctions syndrome type 5 - - Disease - - - - - - - - 569290 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=569290 - Multiple mitochondrial dysfunctions syndrome type 6 - - Disease - - - - - - - - 363424 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363424 - Multiple mitochondrial dysfunctions syndrome type 3 - - Disease - - - - - - - - 401869 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401869 - Multiple mitochondrial dysfunctions syndrome type 1 - - Disease - - - - - - - - 401874 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401874 - Multiple mitochondrial dysfunctions syndrome type 2 - - Disease - - - - - - - - 457406 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457406 - Multiple mitochondrial dysfunctions syndrome type 4 - - Disease - - - - - - - - - - 401859 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401859 - Lipoic acid synthetase deficiency - - Disease - - - - - - - - 401862 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401862 - Lipoyl transferase 1 deficiency - - Disease - - - - - - - - 401866 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401866 - Childhood-onset spasticity with hyperglycinemia - - Disease - - - - - - - - 447795 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447795 - Lipoyl transferase 2 deficiency - - Biological anomaly - - - - - - - - 508093 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508093 - MEPAN syndrome - - Malformation syndrome - - - - - - - - - - - - 79172 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79172 - Creatine deficiency syndrome - - Clinical group - - - - - - 382 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=382 - Guanidinoacetate methyltransferase deficiency - - Disease - - - - - - - - 35704 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35704 - L-Arginine:glycine amidinotransferase deficiency - - Disease - - - - - - - - 52503 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52503 - X-linked creatine transporter deficiency - - Disease - - - - - - - - - - 79174 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79174 - Disorder of fatty acid oxidation and ketone body metabolism - - Category - - - - - - 79183 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79183 - Disorder of ketolysis - - Category - - - - - - 134 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=134 - Beta-ketothiolase deficiency - - Disease - - - - - - - - 832 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=832 - Succinyl-CoA:3-oxoacid CoA transferase deficiency - - Disease - - - - - - - - - - 309115 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309115 - Disorder of fatty acid oxidation and ketogenesis - - Category - - - - - - 746 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=746 - Mitochondrial trifunctional protein deficiency - - Disease - - - - - - - - 20 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=20 - 3-hydroxy-3-methylglutaric aciduria - - Disease - - - - - - - - 35701 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35701 - 3-hydroxy-3-methylglutaryl-CoA synthase deficiency - - Disease - - - - - - - - 309120 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309120 - Acyl-CoA dehydrogenase deficiency - - Clinical group - - - - - - 42 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=42 - Medium chain acyl-CoA dehydrogenase deficiency - - Disease - - - - - - - - 26791 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=26791 - Multiple acyl-CoA dehydrogenase deficiency - - Disease - - - - - - 394529 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=394529 - Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type - - Clinical subtype - - - - - - - - 394532 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=394532 - Multiple acyl-CoA dehydrogenase deficiency, mild type - - Clinical subtype - - - - - - - - - - 26792 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=26792 - Short chain acyl-CoA dehydrogenase deficiency - - Disease - - - - - - - - 26793 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=26793 - Very long chain acyl-CoA dehydrogenase deficiency - - Disease - - - - - - - - 329942 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329942 - Transient neonatal multiple acyl-CoA dehydrogenase deficiency - - Disease - - - - - - - - - - 309127 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309127 - 3-hydroxyacyl-CoA dehydrogenase deficiency - - Clinical group - - - - - - 5 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=5 - Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency - - Disease - - - - - - - - 71212 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71212 - Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency - - Disease - - - - - - - - - - - - 309130 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309130 - Disorder of carnitine cycle and carnitine transport - - Category - - - - - - 157 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157 - Carnitine palmitoyltransferase II deficiency - - Disease - - - - - - 228302 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228302 - Carnitine palmitoyl transferase II deficiency, myopathic form - - Clinical subtype - - - - - - - - 228305 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228305 - Carnitine palmitoyl transferase II deficiency, severe infantile form - - Clinical subtype - - - - - - - - 228308 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228308 - Carnitine palmitoyl transferase II deficiency, neonatal form - - Clinical subtype - - - - - - - - - - 156 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156 - Carnitine palmitoyl transferase 1A deficiency - - Disease - - - - - - - - 158 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158 - Systemic primary carnitine deficiency - - Disease - - - - - - - - 159 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=159 - Carnitine-acylcarnitine translocase deficiency - - Disease - - - - - - - - - - 309133 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309133 - Metabolic disease due to other fatty acid oxidation disorder - - Category - - - - - - 943 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=943 - Malonic aciduria - - Disease - - - - - - - - - - 438072 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=438072 - Disorder of keton body transport - - Category - - - - - - 438075 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=438075 - Ketoacidosis due to monocarboxylate transporter-1 deficiency - - Disease - - - - - - - - - - - - 254746 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254746 - Pyruvate metabolism disorder - - Category - - - - - - 765 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=765 - Pyruvate dehydrogenase deficiency - - Disease - - - - - - 2394 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2394 - Pyruvate dehydrogenase E3 deficiency - - Clinical subtype - - - - - - - - 79243 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79243 - Pyruvate dehydrogenase E1-alpha deficiency - - Clinical subtype - - - - - - - - 79244 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79244 - Pyruvate dehydrogenase E2 deficiency - - Clinical subtype - - - - - - - - 79246 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79246 - Pyruvate dehydrogenase phosphatase deficiency - - Clinical subtype - - - - - - - - 255138 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=255138 - Pyruvate dehydrogenase E1-beta deficiency - - Clinical subtype - - - - - - - - 255182 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=255182 - Pyruvate dehydrogenase E3-binding protein deficiency - - Clinical subtype - - - - - - - - - - 766 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=766 - Hemolytic anemia due to red cell pyruvate kinase deficiency - - Disease - - - - - - - - 447784 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447784 - Mitochondrial pyruvate carrier deficiency - - Disease - - - - - - - - - - 254749 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254749 - Tricarboxylic acid cycle disorder - - Category - - - - - - 615964 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=615964 - Acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate - - Disease - - - - - - - - 31 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=31 - Oxoglutaric aciduria - - Disease - - - - - - - - 24 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=24 - Fumaric aciduria - - Disease - - - - - - - - 313850 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313850 - Infantile cerebellar-retinal degeneration - - Disease - - - - - - - - - - - - 79214 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79214 - Disorder of biogenic amine metabolism and transport - - Category - - - - - - 79169 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79169 - Disorder of neurotransmitter metabolism and transport - - Category - - - - - - 3057 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3057 - Monoamine oxidase A deficiency - - Disease - - - - - - - - 309819 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309819 - Disorder of pterin metabolism - - Category - - - - - - 255 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=255 - Dopa-responsive dystonia - - Clinical group - - - - - - 101150 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101150 - Autosomal recessive dopa-responsive dystonia - - Disease - - - - - - - - 70594 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70594 - Dopa-responsive dystonia due to sepiapterin reductase deficiency - - Disease - - - - - - - - 98808 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98808 - Autosomal dominant dopa-responsive dystonia - - Disease - - - - - - - - - - 238583 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238583 - Hyperphenylalaninemia due to tetrahydrobiopterin deficiency - - Disease - - - - - - 226 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=226 - Dihydropteridine reductase deficiency - - Clinical subtype - - - - - - - - 13 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=13 - 6-pyruvoyl-tetrahydropterin synthase deficiency - - Clinical subtype - - - - - - - - 2102 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2102 - GTP cyclohydrolase I deficiency - - Clinical subtype - - - - - - - - 1578 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1578 - Pterin-4 alpha-carbinolamine dehydratase deficiency - - Clinical subtype - - - - - - - - - - 508523 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508523 - Hyperphenylalaninemia due to DNAJC12 deficiency - - Disease - - - - - - - - - - 309830 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309830 - Disorder of catecholamine synthesis - - Category - - - - - - 230 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=230 - Dopamine beta-hydroxylase deficiency - - Disease - - - - - - - - 35708 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35708 - Aromatic L-amino acid decarboxylase deficiency - - Disease - - - - - - - - - - 352649 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352649 - Brain dopamine-serotonin vesicular transport disease - - Disease - - - - - - - - - - 79175 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79175 - Disorder of gamma-aminobutyric acid metabolism - - Category - - - - - - 22 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=22 - Succinic semialdehyde dehydrogenase deficiency - - Disease - - - - - - - - 2066 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2066 - Gamma-aminobutyric acid transaminase deficiency - - Disease - - - - - - - - - - 79192 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79192 - Disorder of pyridoxine metabolism - - Category - - - - - - 3006 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3006 - Pyridoxine-dependent-developmental and epileptic encephalopathy - - Disease - - - - - - - - 79096 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79096 - Pyridoxamine-5-phosphate deficiency-developmental and epileptic encephalopathy - - Disease - - - - - - - - - - 79219 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79219 - Metabolic disease involving other neurotransmitter deficiency - - Category - - - - - - 3197 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3197 - Hereditary hyperekplexia - - Disease - - - - - - - - 132 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=132 - Hereditary butyrylcholinesterase deficiency - - Disease - - - - - - - - 79097 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79097 - Folinic acid-responsive seizures - - Disease - - - - - - - - - - - - 79224 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79224 - Disorder of purine or pyrimidine metabolism - - Category - - - - - - 79191 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79191 - Disorder of purine metabolism - - Category - - - - - - 124 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=124 - Diamond-Blackfan anemia - - Disease - - - - - - - - 45 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=45 - Adenosine monophosphate deaminase deficiency - - Disease - - - - - - - - 760 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=760 - Purine nucleoside phosphorylase deficiency - - Disease - - - - - - - - 3467 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3467 - Hereditary xanthinuria - - Disease - - - - - - 93601 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93601 - Xanthinuria type I - - Etiological subtype - - - - - - - - 93602 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93602 - Xanthinuria type II - - Etiological subtype - - - - - - - - - - 46 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=46 - Adenylosuccinate lyase deficiency - - Disease - - - - - - - - 976 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=976 - Adenine phosphoribosyltransferase deficiency - - Disease - - - - - - - - 1187 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1187 - Lethal ataxia with deafness and optic atrophy - - Disease - - - - - - - - 3222 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3222 - Phosphoribosylpyrophosphate synthetase superactivity - - Disease - - - - - - 411536 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411536 - Mild phosphoribosylpyrophosphate synthetase superactivity - - Clinical subtype - - - - - - - - 411543 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411543 - Severe phosphoribosylpyrophosphate synthetase superactivity - - Clinical subtype - - - - - - - - - - 277 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=277 - Severe combined immunodeficiency due to adenosine deaminase deficiency - - Disease - - - - - - - - 99014 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99014 - X-linked Charcot-Marie-Tooth disease type 5 - - Disease - - - - - - - - 99138 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99138 - Hemolytic anemia due to erythrocyte adenosine deaminase overproduction - - Disease - - - - - - - - 206428 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206428 - Hypoxanthine-guanine phosphoribosyltransferase deficiency - - Clinical group - - - - - - 510 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=510 - Lesch-Nyhan syndrome - - Disease - - - - - - - - 79233 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79233 - Hypoxanthine guanine phosphoribosyltransferase partial deficiency - - Disease - - - - - - - - - - 250977 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=250977 - AICA-ribosiduria - - Disease - - - - - - - - 279934 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=279934 - Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency - - Disease - - - - - - - - 423479 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423479 - X-linked intellectual disability-limb spasticity-retinal dystrophy-arginine vasopressin deficiency - - Disease - - - - - - - - 457375 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457375 - ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement - - Disease - - - - - - - - 633099 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=633099 - PAICS deficiency - - Malformation syndrome - - - - - - - - - - 79193 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79193 - Disorder of pyrimidine metabolism - - Category - - - - - - 30 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=30 - Hereditary orotic aciduria - - Disease - - - - - - - - 1675 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1675 - Dihydropyrimidine dehydrogenase deficiency - - Disease - - - - - - - - 298 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=298 - Mitochondrial neurogastrointestinal encephalomyopathy - - Disease - - - - - - - - 35120 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35120 - Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency - - Disease - - - - - - - - 38874 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=38874 - Dihydropyrimidinuria - - Disease - - - - - - - - 65287 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65287 - Beta-ureidopropionase deficiency - - Disease - - - - - - - - 254875 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254875 - Mitochondrial DNA depletion syndrome, myopathic form - - Disease - - - - - - - - 309147 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309147 - Hyper-beta-alaninemia - - Disease - - - - - - - - 448010 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=448010 - CAD-CDG - - Disease - - - - - - - - - - - - 91088 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91088 - Other metabolic disease - - Category - - - - - - 657 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=657 - Congenital isolated hyperinsulinism - - Clinical group - - - - - - 165985 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=165985 - Diazoxide-sensitive diffuse hyperinsulinism - - Clinical group - - - - - - 35878 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35878 - Hyperinsulinism-hyperammonemia syndrome - - Disease - - - - - - - - 71212 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71212 - Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency - - Disease - - - - - - - - 79299 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79299 - Congenital glucokinase-related hyperinsulinism - - Disease - - - - - - - - 165991 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=165991 - Exercise-induced hyperinsulinism - - Disease - - - - - - - - 263455 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263455 - Congenital hyperinsulinism due to HNF4A deficiency - - Disease - - - - - - - - 276556 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276556 - Hyperinsulinism due to UCP2 deficiency - - Disease - - - - - - - - 276575 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276575 - Autosomal dominant hyperinsulinism due to SUR1 deficiency - - Disease - - - - - - - - 276580 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276580 - Autosomal dominant hyperinsulinism due to Kir6.2 deficiency - - Disease - - - - - - - - 324575 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324575 - Hyperinsulinism due to HNF1A deficiency - - Disease - - - - - - - - - - 276585 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276585 - Diazoxide-resistant hyperinsulinism - - Clinical group - - - - - - 79298 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79298 - Diazoxide-resistant focal hyperinsulinism - - Clinical group - - - - - - 276598 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276598 - Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency - - Disease - - - - - - - - 276603 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276603 - Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency - - Disease - - - - - - - - - - 165988 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=165988 - Diazoxide-resistant diffuse hyperinsulinism - - Clinical group - - - - - - 79643 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79643 - Autosomal recessive hyperinsulinism due to SUR1 deficiency - - Disease - - - - - - - - 79644 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79644 - Autosomal recessive hyperinsulinism due to Kir6.2 deficiency - - Disease - - - - - - - - - - - - - - 289877 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289877 - Transient hyperammonemia of the newborn - - Particular clinical situation in a disease or syndrome - - - - - - - - 60 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=60 - Alpha-1-antitrypsin deficiency - - Disease - - - - - - - - 714 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=714 - Hemolytic anemia due to diphosphoglycerate mutase deficiency - - Disease - - - - - - - - 79345 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79345 - Brachytelephalangic chondrodysplasia punctata - - Malformation syndrome - - - - - - - - 79507 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79507 - Hypotonia-failure to thrive-microcephaly syndrome - - Disease - - - - - - - - 99845 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99845 - Genetic recurrent myoglobinuria - - Disease - - - - - - - - 99846 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99846 - Autosomal dominant myoglobinuria - - Disease - - - - - - - - 404454 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404454 - Alacrimia-choreoathetosis-liver dysfunction syndrome - - Disease - - - - - - - - 555402 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=555402 - NAD(P)HX dehydratase deficiency - - Disease - - - - - - - - 555407 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=555407 - NAD(P)HX epimerase deficiency - - Disease - - - - - - - - - - 309005 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309005 - Disorder of lipid metabolism - - Category - - - - - - 79226 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79226 - Sterol metabolism disorder - - Category - - - - - - 79168 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79168 - Disorder of bile acid synthesis - - Category - - - - - - 163631 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163631 - Bile acid synthesis defect with cholestasis and malabsorption - - Category - - - - - - 909 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=909 - Cerebrotendinous xanthomatosis - - Disease - - - - - - - - 485631 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=485631 - Congenital bile acid synthesis defect - - Clinical group - - - - - - 79095 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79095 - Congenital bile acid synthesis defect type 4 - - Disease - - - - - - - - 79301 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79301 - Congenital bile acid synthesis defect type 1 - - Disease - - - - - - - - 79302 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79302 - Congenital bile acid synthesis defect type 3 - - Disease - - - - - - - - 79303 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79303 - Congenital bile acid synthesis defect type 2 - - Disease - - - - - - - - - - 238475 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238475 - Familial hypercholanemia - - Disease - - - - - - - - 276066 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276066 - Bile acid CoA ligase deficiency and defective amidation - - Disease - - - - - - - - - - 209902 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209902 - Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency - - Disease - - - - - - - - - - 79195 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79195 - Sterol biosynthesis disorder - - Category - - - - - - 488168 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488168 - Microcephaly-congenital cataract-psoriasiform dermatitis syndrome - - Malformation syndrome - - - - - - - - 1426 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1426 - Greenberg dysplasia - - Disease - - - - - - - - 139 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139 - CHILD syndrome - - Disease - - - - - - - - 818 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=818 - Smith-Lemli-Opitz syndrome - - Malformation syndrome - - - - - - - - 35107 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35107 - Desmosterolosis - - Disease - - - - - - - - 35173 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35173 - X-linked dominant chondrodysplasia punctata - - Disease - - - - - - - - 46059 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=46059 - Lathosterolosis - - Disease - - - - - - - - 309025 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309025 - Mevalonate kinase deficiency - - Disease - - - - - - 29 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=29 - Mevalonic aciduria - - Clinical subtype - - - - - - - - 343 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=343 - Hyperimmunoglobulinemia D with periodic fever - - Clinical subtype - - - - - - - - - - 401973 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401973 - MEND syndrome - - Malformation syndrome - - - - - - - - 251383 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251383 - CK syndrome - - Malformation syndrome - - - - - - - - - - - - 101953 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101953 - Rare dyslipidemia - - Category - - - - - - 181422 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=181422 - Rare hyperlipidemia - - Category - - - - - - 412 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=412 - Dysbetalipoproteinemia - - Disease - - - - - - - - 181428 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=181428 - Familial Hyperalphalipoproteinemia - - Biological anomaly - - - - - - - - 444490 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444490 - Familial chylomicronemia syndrome - - Disease - - - - - - 309015 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309015 - Familial lipoprotein lipase deficiency - - Etiological subtype - - - - - - - - 309020 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309020 - Familial apolipoprotein C-II deficiency - - Etiological subtype - - - - - - - - 535453 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=535453 - Familial lipase maturation factor 1 deficiency - - Etiological subtype - - - - - - - - 535458 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=535458 - Familial GPIHBP1 deficiency - - Etiological subtype - - - - - - - - 530849 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=530849 - Familial apolipoprotein A5 deficiency - - Etiological subtype - - - - - - - - - - 140905 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140905 - Hyperlipidemia due to hepatic triacylglycerol lipase deficiency - - Disease - - - - - - - - 477811 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477811 - Rare hypercholesterolemia - - Category - - - - - - 209902 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209902 - Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency - - Disease - - - - - - - - 391665 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391665 - Homozygous familial hypercholesterolemia - - Disease - - - - - - - - 466703 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466703 - TMEM199-CDG - - Disease - - - - - - - - 468684 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=468684 - CCDC115-CDG - - Disease - - - - - - - - 77293 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77293 - Chronic visceral acid sphingomyelinase deficiency - - Disease - - - - - - - - 618891 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=618891 - Chronic neurovisceral acid sphingomyelinase deficiency - - Disease - - - - - - - - - - - - 181431 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=181431 - Rare hypolipidemia - - Category - - - - - - 31153 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=31153 - Hypoalphalipoproteinemia - - Clinical group - - - - - - 650 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=650 - LCAT deficiency - - Disease - - - - - - 79292 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79292 - Fish-eye disease - - Clinical subtype - - - - - - - - 79293 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79293 - Familial LCAT deficiency - - Clinical subtype - - - - - - - - - - 425 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=425 - Apolipoprotein A-I deficiency - - Disease - - - - - - - - 31150 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=31150 - Tangier disease - - Disease - - - - - - - - - - 31154 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=31154 - Hypobetalipoproteinemia - - Clinical group - - - - - - 14 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=14 - Abetalipoproteinemia - - Disease - - - - - - - - 71 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71 - Chylomicron retention disease - - Disease - - - - - - - - - - - - 181437 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=181437 - Rare syndromic dyslipidemia - - Category - - - - - - 909 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=909 - Cerebrotendinous xanthomatosis - - Disease - - - - - - - - 2882 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2882 - Sitosterolemia - - Disease - - - - - - - - 275761 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275761 - Lysosomal acid lipase deficiency - - Disease - - - - - - 75233 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75233 - Wolman disease - - Clinical subtype - - - - - - - - 75234 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75234 - Cholesteryl ester storage disease - - Clinical subtype - - - - - - - - - - 329481 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329481 - Lipoprotein glomerulopathy - - Disease - - - - - - - - - - - - 309028 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309028 - Disorder of lipid absorption and transport - - Category - - - - - - 309031 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309031 - Pancreatic triacylglycerol lipase deficiency - - Disease - - - - - - - - 309108 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309108 - Pancreatic colipase deficiency - - Disease - - - - - - - - 309111 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309111 - Combined pancreatic lipase-colipase deficiency - - Disease - - - - - - - - - - 352301 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352301 - Disorder of phospholipids, sphingolipids and fatty acids biosynthesis - - Category - - - - - - 352306 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352306 - Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement - - Category - - - - - - 506353 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=506353 - Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction - - Disease - - - - - - - - 615938 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=615938 - Spastic paraparesis-cataracts-speech delay syndrome - - Clinical syndrome - - - - - - - - 816 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=816 - Sjögren-Larsson syndrome - - Disease - - - - - - - - 139480 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139480 - Autosomal recessive spastic paraplegia type 39 - - Disease - - - - - - - - 157850 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157850 - Pantothenate kinase-associated neurodegeneration - - Disease - - - - - - 216866 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216866 - Classic pantothenate kinase-associated neurodegeneration - - Clinical subtype - - - - - - - - 216873 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216873 - Atypical pantothenate kinase-associated neurodegeneration - - Clinical subtype - - - - - - - - - - 329303 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329303 - PLA2G6-associated neurodegeneration - - Clinical group - - - - - - 35069 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35069 - Infantile neuroaxonal dystrophy - - Disease - - - - - - - - 199351 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199351 - Adult-onset dystonia-parkinsonism - - Disease - - - - - - - - - - 329308 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329308 - Fatty acid hydroxylase-associated neurodegeneration - - Disease - - - - - - - - 352328 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352328 - MEGDEL syndrome - - Disease - - - - - - - - 352333 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352333 - Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome - - Disease - - - - - - - - 370933 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370933 - GM3 synthase deficiency - - Disease - - - - - - - - 423296 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423296 - Spinocerebellar ataxia type 38 - - Disease - - - - - - - - 424027 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424027 - Progressive myoclonic epilepsy type 8 - - Disease - - - - - - - - 431361 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=431361 - Progressive encephalopathy with leukodystrophy due to DECR deficiency - - Disease - - - - - - - - - - 352309 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352309 - Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement - - Category - - - - - - 36386 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36386 - Hereditary sensory and autonomic neuropathy type 1 - - Disease - - - - - - - - 171848 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171848 - Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome - - Disease - - - - - - - - - - 352312 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352312 - Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement - - Category - - - - - - 1369 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1369 - Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome - - Disease - - - - - - - - 111 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=111 - Barth syndrome - - Disease - - - - - - - - 165 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=165 - Neutral lipid storage disease - - Clinical group - - - - - - 98907 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98907 - Neutral lipid storage disease with ichthyosis - - Disease - - - - - - - - 98908 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98908 - Neutral lipid storage disease with myopathy - - Disease - - - - - - - - 692305 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=692305 - Triglyceride deposit cardiomyovasculopathy - - Disease - - - - - - 692296 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=692296 - Idiopathic triglyceride deposit cardiomyovasculopathy - - Etiological subtype - - - - - - - - 565612 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=565612 - Primary triglyceride deposit cardiomyovasculopathy - - Etiological subtype - - - - - - - - - - - - 99845 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99845 - Genetic recurrent myoglobinuria - - Disease - - - - - - - - 280671 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280671 - Megaconial congenital muscular dystrophy - - Disease - - - - - - - - - - 506334 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=506334 - Familial steroid-resistant nephrotic syndrome with adrenal insufficiency - - Disease - - - - - - - - - - - - 309340 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309340 - Disorder of lysosomal-related organelles - - Category - - - - - - 167 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=167 - Chédiak-Higashi syndrome - - Disease - - - - - - - - 2342 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2342 - Haim-Munk syndrome - - Disease - - - - - - - - 678 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=678 - Papillon-Lefèvre syndrome - - Disease - - - - - - - - 79430 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79430 - Hermansky-Pudlak syndrome - - Disease - - - - - - 183678 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183678 - Hermansky-Pudlak syndrome due to AP-3 deficiency - - Clinical subtype - - - - - - 664500 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=664500 - Hermansky-Pudlak syndrome due to AP3B1 deficiency - - Clinical subtype - - - - - - - - 664511 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=664511 - Early-onset severe Hermansky-Pudlak syndrome with hearing loss, due to AP3D1 deficiency - - Clinical subtype - - - - - - - - - - 231500 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231500 - Hermansky-Pudlak syndrome due to BLOC-3 deficiency - - Clinical subtype - - - - - - - - 231512 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231512 - Hermansky-Pudlak syndrome due to BLOC-2 deficiency - - Clinical subtype - - - - - - - - 231531 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231531 - Hermansky-Pudlak syndrome due to BLOC-1 deficiency - - Clinical subtype - - - - - - - - - - 675782 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=675782 - Progressive hypotonia-intellectual disability-facial dysmorphism syndrome due to FYVE-defective RBSN - - Disease - - - - - - - - - - 309813 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309813 - Disorder of porphyrin and heme metabolism - - Category - - - - - - 738 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=738 - Porphyria - - Clinical group - - - - - - 659681 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=659681 - Erythropoietic porphyria - - Clinical group - - - - - - 79277 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79277 - Congenital erythropoietic porphyria - - Disease - - - - - - - - 79278 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79278 - Autosomal erythropoietic protoporphyria - - Disease - - - - - - - - 443197 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443197 - X-linked erythropoietic protoporphyria - - Disease - - - - - - - - 280379 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280379 - Erythropoietic uroporphyria associated with myeloid malignancy - - Disease - - - - - - - - 95159 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95159 - Hepatoerythropoietic porphyria - - Disease - - - - - - - - 659672 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=659672 - Harderoporphyria - - Disease - - - - - - - - - - 659694 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=659694 - Hepatic porphyria - - Clinical group - - - - - - 95157 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95157 - Acute hepatic porphyria - - Clinical group - - - - - - 79273 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79273 - Hereditary coproporphyria - - Disease - - - - - - - - 79276 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79276 - Acute intermittent porphyria - - Disease - - - - - - - - 79473 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79473 - Variegate porphyria - - Disease - - - - - - - - 100924 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100924 - Porphyria due to ALA dehydratase deficiency - - Disease - - - - - - - - - - 659698 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=659698 - Hepatic cutaneous porphyria - - Clinical group - - - - - - 101330 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101330 - Porphyria cutanea tarda - - Disease - - - - - - 443057 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443057 - Sporadic porphyria cutanea tarda - - Clinical subtype - - - - - - - - 443062 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443062 - Familial porphyria cutanea tarda - - Clinical subtype - - - - - - - - - - - - - - - - 75563 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75563 - X-linked sideroblastic anemia - - Disease - - - - - - - - 309816 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309816 - Disorder of bilirubin metabolism and excretion - - Category - - - - - - 205 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=205 - Crigler-Najjar syndrome - - Disease - - - - - - 79234 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79234 - Crigler-Najjar syndrome type 1 - - Clinical subtype - - - - - - - - 79235 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79235 - Crigler-Najjar syndrome type 2 - - Clinical subtype - - - - - - - - - - 234 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=234 - Dubin-Johnson syndrome - - Disease - - - - - - - - 3111 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3111 - Rotor syndrome - - Disease - - - - - - - - 172 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=172 - Progressive familial intrahepatic cholestasis - - Disease - - - - - - 79304 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79304 - Progressive familial intrahepatic cholestasis type 2 - - Clinical subtype - - - - - - - - 79305 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79305 - Progressive familial intrahepatic cholestasis type 3 - - Clinical subtype - - - - - - - - 79306 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79306 - Progressive familial intrahepatic cholestasis type 1 - - Clinical subtype - - - - - - - - 480483 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480483 - Progressive familial intrahepatic cholestasis type 4 - - Clinical subtype - - - - - - - - 480491 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480491 - MYO5B-related progressive familial intrahepatic cholestasis - - Clinical subtype - - - - - - - - 480476 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480476 - Progressive familial intrahepatic cholestasis type 5 - - Clinical subtype - - - - - - - - 168583 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168583 - Hereditary North American Indian childhood cirrhosis - - Clinical subtype - - - - - - - - - - 2697 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2697 - Arthrogryposis-renal dysfunction-cholestasis syndrome - - Malformation syndrome - - - - - - - - 65682 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65682 - Benign recurrent intrahepatic cholestasis - - Disease - - - - - - 99960 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99960 - Benign recurrent intrahepatic cholestasis type 1 - - Clinical subtype - - - - - - - - 99961 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99961 - Benign recurrent intrahepatic cholestasis type 2 - - Clinical subtype - - - - - - - - - - - - 562509 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=562509 - Heme oxygenase-1 deficiency - - Disease - - - - - - - - - - 309824 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309824 - Disorder of metabolite absorption and transport - - Category - - - - - - 309827 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309827 - Disorder of vitamin and non-protein cofactor absorption and transport - - Category - - - - - - 79171 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79171 - Disorder of cobalamin metabolism and transport - - Category - - - - - - 26 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=26 - Methylmalonic acidemia with homocystinuria - - Disease - - - - - - 79282 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79282 - Methylmalonic acidemia with homocystinuria, type cblC - - Clinical subtype - - - - - - - - 79283 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79283 - Methylmalonic acidemia with homocystinuria, type cblD - - Clinical subtype - - - - - - - - 79284 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79284 - Methylmalonic acidemia with homocystinuria type cblF - - Clinical subtype - - - - - - - - 369955 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369955 - Methylmalonic acidemia with homocystinuria, type cblJ - - Clinical subtype - - - - - - - - 369962 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369962 - Methylmalonic acidemia with homocystinuria, type cblX - - Clinical subtype - - - - - - - - - - 859 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=859 - Transcobalamin deficiency - - Disease - - - - - - - - 28 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=28 - Vitamin B12-responsive methylmalonic acidemia - - Disease - - - - - - 79310 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79310 - Vitamin B12-responsive methylmalonic acidemia type cblA - - Clinical subtype - - - - - - - - 79311 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79311 - Vitamin B12-responsive methylmalonic acidemia type cblB - - Clinical subtype - - - - - - - - 308442 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308442 - Vitamin B12-responsive methylmalonic acidemia, type cblDv2 - - Clinical subtype - - - - - - - - - - 2967 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2967 - Transcobalamin I deficiency - - Disease - - - - - - - - 332 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=332 - Congenital intrinsic factor deficiency - - Disease - - - - - - - - 622 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=622 - Homocystinuria without methylmalonic aciduria - - Disease - - - - - - 2169 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2169 - Methylcobalamin deficiency type cblE - - Clinical subtype - - - - - - - - 2170 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2170 - Methylcobalamin deficiency type cblG - - Clinical subtype - - - - - - - - 308380 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308380 - Methylcobalamin deficiency type cblDv1 - - Clinical subtype - - - - - - - - - - 35858 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35858 - Imerslund-Gräsbeck syndrome - - Disease - - - - - - - - 280183 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280183 - Methylmalonic aciduria due to transcobalamin receptor defect - - Biological anomaly - - - - - - - - - - 285657 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=285657 - Disorder of folate metabolism and transport - - Category - - - - - - 658813 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=658813 - Combined immunodeficiency-megaloblastic anemia due to methylenetetrahydrofolate dehydrogenase 1 deficiency - - Disease - - - - - - - - 661412 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=661412 - Megaloblastic anemia-immunodeficiency due to folate transporter 1 deficiency - - Disease - - - - - - - - 597874 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=597874 - MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome - - Disease - - - - - - - - 395 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=395 - Homocystinuria due to methylene tetrahydrofolate reductase deficiency - - Disease - - - - - - - - 51208 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=51208 - Formiminoglutamic aciduria - - Disease - - - - - - - - 90045 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90045 - Hereditary folate malabsorption - - Disease - - - - - - - - 217382 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217382 - Neurodegenerative syndrome due to cerebral folate transport deficiency - - Disease - - - - - - - - 319651 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319651 - Constitutional megaloblastic anemia with severe neurologic disease - - Disease - - - - - - - - - - 298644 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=298644 - Disorder of thiamine metabolism and transport - - Category - - - - - - 217396 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217396 - Progressive polyneuropathy with bilateral striatal necrosis - - Disease - - - - - - - - 49827 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=49827 - Thiamine-responsive megaloblastic anemia syndrome - - Disease - - - - - - - - 65284 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65284 - Biotin-thiamine-responsive basal ganglia disease - - Disease - - - - - - - - 199348 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199348 - Thiamine-responsive encephalopathy - - Disease - - - - - - - - 263410 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263410 - Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome - - Disease - - - - - - - - 293955 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293955 - Childhood encephalopathy due to thiamine pyrophosphokinase deficiency - - Disease - - - - - - - - 99742 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99742 - Amish lethal microcephaly - - Malformation syndrome - - - - - - - - - - 309833 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309833 - Disorder of other vitamins and cofactors metabolism and transport - - Category - - - - - - 96 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96 - Ataxia with vitamin E deficiency - - Disease - - - - - - - - 79096 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79096 - Pyridoxamine-5-phosphate deficiency-developmental and epileptic encephalopathy - - Disease - - - - - - - - 79241 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79241 - Biotinidase deficiency - - Disease - - - - - - - - 98434 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98434 - Hereditary combined deficiency of vitamin K-dependent clotting factors - - Disease - - - - - - - - 99732 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99732 - Sulfite oxidase deficiency due to molybdenum cofactor deficiency - - Clinical subtype - - - - - - 308386 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308386 - Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A - - Etiological subtype - - - - - - - - 308393 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308393 - Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B - - Etiological subtype - - - - - - - - 308400 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308400 - Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C - - Etiological subtype - - - - - - - - - - 157850 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157850 - Pantothenate kinase-associated neurodegeneration - - Disease - - - - - - 216866 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216866 - Classic pantothenate kinase-associated neurodegeneration - - Clinical subtype - - - - - - - - 216873 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216873 - Atypical pantothenate kinase-associated neurodegeneration - - Clinical subtype - - - - - - - - - - 199285 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199285 - Hereditary hypercarotenemia and vitamin A deficiency - - Disease - - - - - - - - 352718 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352718 - Progressive retinal dystrophy due to retinol transport defect - - Disease - - - - - - - - 411712 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411712 - Maternal riboflavin deficiency - - Disease - - - - - - - - 79242 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79242 - Holocarboxylase synthetase deficiency - - Disease - - - - - - - - 521268 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521268 - Sodium-dependent multivitamin transporter deficiency - - Disease - - - - - - - - - - - - 309836 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309836 - Disorder of mineral absorption and transport - - Category - - - - - - 309839 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309839 - Disorder of copper metabolism - - Category - - - - - - 905 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=905 - Wilson disease - - Disease - - - - - - - - 565 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=565 - Menkes disease - - Disease - - - - - - - - 1551 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1551 - Familial benign copper deficiency - - Disease - - - - - - - - 198 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=198 - Occipital horn syndrome - - Disease - - - - - - - - 171851 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171851 - MEDNIK syndrome - - Disease - - - - - - - - 139557 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139557 - X-linked distal spinal muscular atrophy type 3 - - Disease - - - - - - - - 300313 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300313 - Congenital cataract-hearing loss-severe developmental delay syndrome - - Disease - - - - - - - - 48818 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=48818 - Aceruloplasminemia - - Disease - - - - - - - - 521411 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521411 - Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect - - Disease - - - - - - - - - - 309842 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309842 - Disorder of iron metabolism and transport - - Category - - - - - - 446 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=446 - Neonatal hemochromatosis - - Disease - - - - - - - - 1195 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1195 - Congenital atransferrinemia - - Disease - - - - - - - - 48818 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=48818 - Aceruloplasminemia - - Disease - - - - - - - - 83642 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83642 - Microcytic anemia with liver iron overload - - Disease - - - - - - - - 139507 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139507 - Dietary iron overload disease - - Disease - - - - - - - - 157846 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157846 - Neuroferritinopathy - - Disease - - - - - - - - 220489 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220489 - Rare hereditary hemochromatosis - - Category - - - - - - 465508 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=465508 - Symptomatic form of HFE-related hemochromatosis - - Disease - - - - - - - - 648569 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=648569 - Non-HFE-related hemochromatosis - - Clinical group - - - - - - 225123 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=225123 - TFR2-related hemochromatosis - - Disease - - - - - - - - 647834 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=647834 - SLC40A1-related hemochromatosis - - Disease - - - - - - - - 79230 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79230 - HJV or HAMP-related hemochromatosis - - Disease - - - - - - - - - - 648581 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=648581 - Digenic hemochromatosis - - Disease - - - - - - - - - - 247790 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247790 - FTH1-related iron overload - - Disease - - - - - - - - 440731 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=440731 - L-ferritin deficiency - - Biological anomaly - - - - - - - - 163 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163 - Hereditary hyperferritinemia-cataract syndrome - - Disease - - - - - - - - 648562 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=648562 - Ferroportin disease - - Disease - - - - - - - - - - 309845 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309845 - Disorder of zinc metabolism and transport - - Category - - - - - - 505242 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=505242 - Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome - - Disease - - - - - - - - 37 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=37 - Acrodermatitis enteropathica - - Disease - - - - - - - - 251523 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251523 - Hyperzincemia and hypercalprotectinemia - - Disease - - - - - - - - - - 309848 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309848 - Disorder of magnesium transport - - Category - - - - - - 30924 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=30924 - Primary hypomagnesemia with secondary hypocalcemia - - Disease - - - - - - - - 34528 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=34528 - Autosomal dominant primary hypomagnesemia with hypocalciuria - - Disease - - - - - - - - 199326 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199326 - Isolated autosomal dominant hypomagnesemia, Glaudemans type - - Disease - - - - - - - - 564178 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=564178 - Primary hypomagnesemia-refractory seizures-intellectual disability syndrome - - Disease - - - - - - - - 620363 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=620363 - Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome - - Disease - - - - - - - - 620368 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=620368 - EGF-related primary hypomagnesemia with intellectual disability - - Disease - - - - - - - - 306516 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306516 - Primary hypomagnesemia with hypercalciuria and nephrocalcinosis - - Disease - - - - - - 2196 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2196 - Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement - - Clinical subtype - - - - - - - - 31043 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=31043 - Primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement - - Clinical subtype - - - - - - - - - - - - 309851 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309851 - Disorder of manganese transport - - Category - - - - - - 309854 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309854 - Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome - - Disease - - - - - - - - 468699 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=468699 - SLC39A8-CDG - - Disease - - - - - - - - 521406 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521406 - Dystonia-parkinsonism-hypermanganesemia syndrome - - Disease - - - - - - - - - - - - - - - - 71859 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71859 - Rare genetic neurological disorder - - Category - - - - - - 98743 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98743 - Genetic neurological channelopathy of the central nervous system - - Category - - - - - - 98744 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98744 - Neurological channelopathy of the central nervous system due to a genetic sodium channel defect - - Category - - - - - - 36387 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36387 - Genetic epilepsy with febrile seizure plus - - Disease - - - - - - - - 681 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=681 - Hypokalemic periodic paralysis - - Disease - - - - - - - - 31709 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=31709 - Infantile convulsions and choreoathetosis - - Disease - - - - - - - - 293181 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293181 - Epilepsy of infancy with migrating focal seizures - - Disease - - - - - - - - 2382 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2382 - Lennox-Gastaut syndrome - - Disease - - - - - - - - 569 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=569 - Familial or sporadic hemiplegic migraine - - Disease - - - - - - - - 442835 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=442835 - Non-specific early-onset epileptic encephalopathy - - Disease - - - - - - - - 1934 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1934 - Early infantile developmental and epileptic encephalopathy - - Clinical syndrome - - - - - - - - 33069 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33069 - Dravet syndrome - - Disease - - - - - - - - 306 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306 - Self-limited infantile epilepsy - - Disease - - - - - - - - 140927 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140927 - Self-limited neonatal-infantile epilepsy - - Disease - - - - - - - - - - 98745 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98745 - Neurological channelopathy of the central nervous system due to a genetic calcium channel defect - - Category - - - - - - 64280 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64280 - Childhood absence epilepsy - - Disease - - - - - - - - 458803 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=458803 - Spinocerebellar ataxia type 42 - - Disease - - - - - - - - 97 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97 - Familial paroxysmal ataxia - - Disease - - - - - - - - 569 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=569 - Familial or sporadic hemiplegic migraine - - Disease - - - - - - - - 98758 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98758 - Spinocerebellar ataxia type 6 - - Disease - - - - - - - - 442835 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=442835 - Non-specific early-onset epileptic encephalopathy - - Disease - - - - - - - - - - 98746 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98746 - Neurological channelopathy of the central nervous system due to a genetic potassium channel defect - - Category - - - - - - 1934 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1934 - Early infantile developmental and epileptic encephalopathy - - Clinical syndrome - - - - - - - - 306 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306 - Self-limited infantile epilepsy - - Disease - - - - - - - - 166108 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166108 - Birk-Barel syndrome - - Disease - - - - - - - - 435438 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435438 - Progressive myoclonic epilepsy type 7 - - Disease - - - - - - - - 98809 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98809 - Paroxysmal kinesigenic dyskinesia - - Disease - - - - - - - - 98768 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98768 - Spinocerebellar ataxia type 13 - - Disease - - - - - - - - 199343 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199343 - EAST syndrome - - Disease - - - - - - - - 439218 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439218 - KCNQ2-related developmental and epileptic encephalopathy - - Disease - - - - - - - - 98784 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98784 - Sleep-related hypermotor epilepsy - - Disease - - - - - - - - 435628 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435628 - Keppen-Lubinsky syndrome - - Malformation syndrome - - - - - - - - 1949 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1949 - Self-limited neonatal epilepsy - - Disease - - - - - - - - 98772 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98772 - Spinocerebellar ataxia type 19/22 - - Disease - - - - - - - - 442835 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=442835 - Non-specific early-onset epileptic encephalopathy - - Disease - - - - - - - - 664438 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=664438 - Gingival fibromatosis-aortic root dilatation-facial dysmorphism-intellectual disability syndrome - - Malformation syndrome - - - - - - - - 140927 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140927 - Self-limited neonatal-infantile epilepsy - - Disease - - - - - - - - 37612 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=37612 - Episodic ataxia type 1 - - Disease - - - - - - - - 79137 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79137 - Generalized epilepsy-paroxysmal dyskinesia syndrome - - Disease - - - - - - - - - - 98747 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98747 - Neurological channelopathy of the central nervous system due to a genetic glycine receptor defect - - Category - - - - - - 3197 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3197 - Hereditary hyperekplexia - - Disease - - - - - - - - - - 98748 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98748 - Neurological channelopathy of the central nervous system due to a genetic acetylcholine receptor defect - - Category - - - - - - 98784 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98784 - Sleep-related hypermotor epilepsy - - Disease - - - - - - - - - - 98749 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98749 - Neurological channelopathy of the central nervous system due to a genetic GABA receptor defect - - Category - - - - - - 307 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=307 - Juvenile myoclonic epilepsy - - Disease - - - - - - - - 442835 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=442835 - Non-specific early-onset epileptic encephalopathy - - Disease - - - - - - - - 36387 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36387 - Genetic epilepsy with febrile seizure plus - - Disease - - - - - - - - 33069 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33069 - Dravet syndrome - - Disease - - - - - - - - 1945 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1945 - Self-limited epilepsy with centrotemporal spikes - - Disease - - - - - - - - 2382 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2382 - Lennox-Gastaut syndrome - - Disease - - - - - - - - 64280 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64280 - Childhood absence epilepsy - - Disease - - - - - - - - - - 538238 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=538238 - Neurological channelopathy of the central nervous system due to a genetic chloride channel defect - - Category - - - - - - 363540 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363540 - Leukoencephalopathy with mild cerebellar ataxia and white matter edema - - Disease - - - - - - - - 485350 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=485350 - CLCN4-related X-linked intellectual disability syndrome - - Disease - - - - - - - - - - - - 2047 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2047 - Flynn-Aird syndrome - - Disease - - - - - - - - 68356 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=68356 - Leukodystrophy - - Category - - - - - - 83629 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83629 - Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome - - Disease - - - - - - - - 457406 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457406 - Multiple mitochondrial dysfunctions syndrome type 4 - - Disease - - - - - - - - 1659 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1659 - Dermatoleukodystrophy - - Disease - - - - - - - - 495844 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=495844 - C11ORF73-related autosomal recessive hypomyelinating leukodystrophy - - Disease - - - - - - - - 466934 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466934 - VPS11-related autosomal recessive hypomyelinating leukodystrophy - - Disease - - - - - - - - 58 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=58 - Alexander disease - - Disease - - - - - - 363717 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363717 - Alexander disease type I - - Clinical subtype - - - - - - - - 363722 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363722 - Alexander disease type II - - Clinical subtype - - - - - - - - - - 141 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141 - Canavan disease - - Disease - - - - - - 314911 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314911 - Severe Canavan disease - - Clinical subtype - - - - - - - - 314918 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314918 - Mild Canavan disease - - Clinical subtype - - - - - - - - - - 487 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=487 - Krabbe disease - - Disease - - - - - - 206443 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206443 - Late-infantile/juvenile Krabbe disease - - Clinical subtype - - - - - - - - 206448 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206448 - Adult Krabbe disease - - Clinical subtype - - - - - - - - 206436 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206436 - Infantile Krabbe disease - - Clinical subtype - - - - - - - - - - 512 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=512 - Metachromatic leukodystrophy - - Disease - - - - - - 309256 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309256 - Metachromatic leukodystrophy, late infantile form - - Clinical subtype - - - - - - - - 309263 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309263 - Metachromatic leukodystrophy, juvenile form - - Clinical subtype - - - - - - - - 309271 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309271 - Metachromatic leukodystrophy, adult form - - Clinical subtype - - - - - - - - - - 773 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=773 - Refsum disease - - Disease - - - - - - - - 909 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=909 - Cerebrotendinous xanthomatosis - - Disease - - - - - - - - 702 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=702 - Pelizaeus-Merzbacher disease - - Disease - - - - - - 280210 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280210 - Pelizaeus-Merzbacher disease, connatal form - - Clinical subtype - - - - - - - - 280219 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280219 - Pelizaeus-Merzbacher disease, classic form - - Clinical subtype - - - - - - - - 280224 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280224 - Pelizaeus-Merzbacher disease, transitional form - - Clinical subtype - - - - - - - - 280229 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280229 - Pelizaeus-Merzbacher disease in female carriers - - Clinical subtype - - - - - - - - 280234 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280234 - Null syndrome - - Clinical subtype - - - - - - - - - - 43 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=43 - X-linked adrenoleukodystrophy - - Disease - - - - - - 139396 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139396 - X-linked cerebral adrenoleukodystrophy - - Clinical subtype - - - - - - - - 139399 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139399 - Adrenomyeloneuropathy - - Clinical subtype - - - - - - - - - - 51 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=51 - Aicardi-Goutières syndrome - - Disease - - - - - - - - 2770 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2770 - Nasu-Hakola disease - - Malformation syndrome - - - - - - - - 135 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=135 - CACH syndrome - - Disease - - - - - - 99853 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99853 - Ovarioleukodystrophy - - Clinical subtype - - - - - - - - 99854 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99854 - Cree leukoencephalopathy - - Clinical subtype - - - - - - - - 157713 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157713 - Congenital or early infantile CACH syndrome - - Clinical subtype - - - - - - - - 157716 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157716 - Late infantile CACH syndrome - - Clinical subtype - - - - - - - - 157719 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157719 - Juvenile or adult CACH syndrome - - Clinical subtype - - - - - - - - - - 2478 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2478 - Megalencephalic leukoencephalopathy with subcortical cysts - - Disease - - - - - - - - 79189 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79189 - Peroxisome biogenesis disorder - - Clinical group - - - - - - 912 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=912 - Zellweger syndrome - - Disease - - - - - - - - 44 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=44 - Neonatal adrenoleukodystrophy - - Disease - - - - - - - - 772 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=772 - Infantile Refsum disease - - Disease - - - - - - - - - - 85136 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85136 - Cystic leukoencephalopathy without megalencephaly - - Disease - - - - - - - - 85163 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85163 - Hypomyelination-congenital cataract syndrome - - Malformation syndrome - - - - - - - - 99015 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99015 - Spastic paraplegia type 2 - - Disease - - - - - - - - 99027 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99027 - Adult-onset autosomal dominant leukodystrophy - - Disease - - - - - - - - 99852 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99852 - Ravine syndrome - - Disease - - - - - - - - 137898 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137898 - Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome - - Disease - - - - - - - - 139441 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139441 - Hypomyelination with atrophy of basal ganglia and cerebellum - - Disease - - - - - - - - 139444 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139444 - Leukoencephalopathy with bilateral anterior temporal lobe cysts - - Disease - - - - - - - - 139447 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139447 - Progressive cavitating leukoencephalopathy - - Disease - - - - - - - - 163684 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163684 - Leukoencephalopathy-dystonia-motor neuropathy syndrome - - Disease - - - - - - - - 163746 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163746 - Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease - - Disease - - - - - - - - 280270 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280270 - Pelizaeus-Merzbacher-like disease - - Disease - - - - - - 280282 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280282 - Pelizaeus-Merzbacher-like disease due to GJC2 mutation - - Clinical subtype - - - - - - - - 280288 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280288 - Pelizaeus-Merzbacher-like disease due to HSPD1 mutation - - Clinical subtype - - - - - - - - 280293 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280293 - Pelizaeus-Merzbacher-like disease due to AIMP1 mutation - - Clinical subtype - - - - - - - - - - 289494 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289494 - 4H leukodystrophy - - Disease - - - - - - 77295 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77295 - Odontoleukodystrophy - - Clinical subtype - - - - - - - - 88637 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88637 - Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome - - Clinical subtype - - - - - - - - 137639 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137639 - Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome - - Clinical subtype - - - - - - - - 447896 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447896 - Tremor-ataxia-central hypomyelination syndrome - - Clinical subtype - - - - - - - - 447893 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447893 - Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome - - Clinical subtype - - - - - - - - - - 313808 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313808 - Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia - - Disease - - - - - - - - 314051 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314051 - Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome - - Disease - - - - - - - - 363412 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363412 - Hypomyelination with brain stem and spinal cord involvement and leg spasticity - - Disease - - - - - - - - 363540 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363540 - Leukoencephalopathy with mild cerebellar ataxia and white matter edema - - Disease - - - - - - - - 369942 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369942 - CADDS - - Disease - - - - - - - - 431361 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=431361 - Progressive encephalopathy with leukodystrophy due to DECR deficiency - - Disease - - - - - - - - 436271 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436271 - Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy - - Disease - - - - - - - - 438114 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=438114 - RARS-related autosomal recessive hypomyelinating leukodystrophy - - Disease - - - - - - - - 440706 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=440706 - Ribose-5-P isomerase deficiency - - Disease - - - - - - - - 597874 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=597874 - MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome - - Disease - - - - - - - - 556985 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=556985 - Early-onset calcifying leukoencephalopathy-skeletal dysplasia - - Disease - - - - - - - - 652532 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=652532 - Adult-onset progressive leukoencephalopathy-early-onset deafness - - Disease - - - - - - - - 502444 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=502444 - Alkaline ceramidase 3 deficiency - - Disease - - - - - - - - 527497 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=527497 - NKX6-2-related autosomal recessive hypomyelinating leukodystrophy - - Disease - - - - - - - - 611207 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=611207 - Spondyloepiphyseal dysplasia-sensorineural hearing loss-intellectual disability-Leber congenital amaurosis syndrome - - Clinical syndrome - - - - - - - - 599376 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=599376 - Hypomyelination of early myelinating structures - - Disease - - - - - - - - 662229 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662229 - Episodic memory defect leukoencephalopathy - - Disease - - - - - - - - - - 68385 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=68385 - Neurometabolic disease - - Category - - - - - - 615964 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=615964 - Acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate - - Disease - - - - - - - - 254875 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254875 - Mitochondrial DNA depletion syndrome, myopathic form - - Disease - - - - - - - - 254892 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254892 - Autosomal dominant progressive external ophthalmoplegia - - Disease - - - - - - - - 254886 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254886 - Autosomal recessive progressive external ophthalmoplegia - - Disease - - - - - - - - 663 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=663 - Mitochondrial DNA-related progressive external ophthalmoplegia - - Disease - - - - - - - - 352447 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352447 - Progressive external ophthalmoplegia-myopathy-emaciation syndrome - - Disease - - - - - - - - 615938 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=615938 - Spastic paraparesis-cataracts-speech delay syndrome - - Clinical syndrome - - - - - - - - 61 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=61 - Alpha-mannosidosis - - Disease - - - - - - 309282 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309282 - Alpha-mannosidosis, infantile form - - Clinical subtype - - - - - - - - 309288 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309288 - Alpha-mannosidosis, adult form - - Clinical subtype - - - - - - - - - - 93 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93 - Aspartylglucosaminuria - - Disease - - - - - - - - 585 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=585 - Multiple sulfatase deficiency - - Disease - - - - - - - - 141 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141 - Canavan disease - - Disease - - - - - - 314911 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314911 - Severe Canavan disease - - Clinical subtype - - - - - - - - 314918 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314918 - Mild Canavan disease - - Clinical subtype - - - - - - - - - - 333 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=333 - Farber disease - - Disease - - - - - - - - 487 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=487 - Krabbe disease - - Disease - - - - - - 206443 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206443 - Late-infantile/juvenile Krabbe disease - - Clinical subtype - - - - - - - - 206448 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206448 - Adult Krabbe disease - - Clinical subtype - - - - - - - - 206436 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206436 - Infantile Krabbe disease - - Clinical subtype - - - - - - - - - - 812 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=812 - Sialidosis type 1 - - Disease - - - - - - - - 95 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95 - Friedreich ataxia - - Disease - - - - - - - - 480 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480 - Kearns-Sayre syndrome - - Disease - - - - - - - - 550 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=550 - MELAS - - Disease - - - - - - - - 551 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=551 - MERRF - - Disease - - - - - - - - 512 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=512 - Metachromatic leukodystrophy - - Disease - - - - - - 309256 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309256 - Metachromatic leukodystrophy, late infantile form - - Clinical subtype - - - - - - - - 309263 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309263 - Metachromatic leukodystrophy, juvenile form - - Clinical subtype - - - - - - - - 309271 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309271 - Metachromatic leukodystrophy, adult form - - Clinical subtype - - - - - - - - - - 580 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=580 - Mucopolysaccharidosis type 2 - - Disease - - - - - - 217085 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217085 - Mucopolysaccharidosis type 2, severe form - - Clinical subtype - - - - - - - - 217093 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217093 - Mucopolysaccharidosis type 2, attenuated form - - Clinical subtype - - - - - - - - - - 579 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=579 - Mucopolysaccharidosis type 1 - - Disease - - - - - - 93473 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93473 - Hurler syndrome - - Clinical subtype - - - - - - - - 93474 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93474 - Scheie syndrome - - Clinical subtype - - - - - - - - 93476 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93476 - Hurler-Scheie syndrome - - Clinical subtype - - - - - - - - - - 905 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=905 - Wilson disease - - Disease - - - - - - - - 96 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96 - Ataxia with vitamin E deficiency - - Disease - - - - - - - - 394 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=394 - Homocystinuria due to cystathionine beta-synthase deficiency - - Disease - - - - - - - - 644 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=644 - NARP syndrome - - Disease - - - - - - - - 14 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=14 - Abetalipoproteinemia - - Disease - - - - - - - - 565 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=565 - Menkes disease - - Disease - - - - - - - - 868 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=868 - Triose phosphate-isomerase deficiency - - Disease - - - - - - - - 385 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=385 - Neurodegeneration with brain iron accumulation - - Clinical group - - - - - - 3464 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3464 - Woodhouse-Sakati syndrome - - Disease - - - - - - - - 48818 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=48818 - Aceruloplasminemia - - Disease - - - - - - - - 157846 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157846 - Neuroferritinopathy - - Disease - - - - - - - - 157850 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157850 - Pantothenate kinase-associated neurodegeneration - - Disease - - - - - - 216866 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216866 - Classic pantothenate kinase-associated neurodegeneration - - Clinical subtype - - - - - - - - 216873 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216873 - Atypical pantothenate kinase-associated neurodegeneration - - Clinical subtype - - - - - - - - - - 289560 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289560 - Mitochondrial membrane protein-associated neurodegeneration - - Disease - - - - - - - - 306674 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306674 - Kufor-Rakeb syndrome - - Disease - - - - - - - - 329284 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329284 - Beta-propeller protein-associated neurodegeneration - - Disease - - - - - - - - 329303 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329303 - PLA2G6-associated neurodegeneration - - Clinical group - - - - - - 35069 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35069 - Infantile neuroaxonal dystrophy - - Disease - - - - - - - - 199351 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199351 - Adult-onset dystonia-parkinsonism - - Disease - - - - - - - - - - 329308 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329308 - Fatty acid hydroxylase-associated neurodegeneration - - Disease - - - - - - - - 397725 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397725 - COASY protein-associated neurodegeneration - - Disease - - - - - - - - 496756 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=496756 - Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome - - Disease - - - - - - - - - - 2609 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2609 - Isolated complex I deficiency - - Disease - - - - - - - - 773 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=773 - Refsum disease - - Disease - - - - - - - - 22 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=22 - Succinic semialdehyde dehydrogenase deficiency - - Disease - - - - - - - - 833 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=833 - Encephalopathy due to sulfite oxidase deficiency - - Disease - - - - - - 99731 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99731 - Isolated sulfite oxidase deficiency - - Clinical subtype - - - - - - - - 99732 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99732 - Sulfite oxidase deficiency due to molybdenum cofactor deficiency - - Clinical subtype - - - - - - 308386 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308386 - Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A - - Etiological subtype - - - - - - - - 308393 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308393 - Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B - - Etiological subtype - - - - - - - - 308400 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308400 - Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C - - Etiological subtype - - - - - - - - - - - - 557056 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=557056 - Spastic ataxia-dysarthria due to glutaminase deficiency - - Disease - - - - - - - - 544488 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=544488 - Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome - - Disease - - - - - - - - 555402 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=555402 - NAD(P)HX dehydratase deficiency - - Disease - - - - - - - - 555407 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=555407 - NAD(P)HX epimerase deficiency - - Disease - - - - - - - - 656279 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=656279 - 1p36.33 duplication syndrome - - Disease - - - - - - - - 309819 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309819 - Disorder of pterin metabolism - - Category - - - - - - 255 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=255 - Dopa-responsive dystonia - - Clinical group - - - - - - 101150 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101150 - Autosomal recessive dopa-responsive dystonia - - Disease - - - - - - - - 70594 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70594 - Dopa-responsive dystonia due to sepiapterin reductase deficiency - - Disease - - - - - - - - 98808 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98808 - Autosomal dominant dopa-responsive dystonia - - Disease - - - - - - - - - - 238583 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238583 - Hyperphenylalaninemia due to tetrahydrobiopterin deficiency - - Disease - - - - - - 226 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=226 - Dihydropteridine reductase deficiency - - Clinical subtype - - - - - - - - 13 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=13 - 6-pyruvoyl-tetrahydropterin synthase deficiency - - Clinical subtype - - - - - - - - 2102 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2102 - GTP cyclohydrolase I deficiency - - Clinical subtype - - - - - - - - 1578 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1578 - Pterin-4 alpha-carbinolamine dehydratase deficiency - - Clinical subtype - - - - - - - - - - 508523 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508523 - Hyperphenylalaninemia due to DNAJC12 deficiency - - Disease - - - - - - - - - - 95433 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95433 - Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome - - Disease - - - - - - - - 70472 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70472 - Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type - - Disease - - - - - - - - 447795 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447795 - Lipoyl transferase 2 deficiency - - Biological anomaly - - - - - - - - 289573 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289573 - Multiple mitochondrial dysfunctions syndrome - - Clinical group - - - - - - 569274 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=569274 - Multiple mitochondrial dysfunctions syndrome type 5 - - Disease - - - - - - - - 569290 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=569290 - Multiple mitochondrial dysfunctions syndrome type 6 - - Disease - - - - - - - - 363424 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363424 - Multiple mitochondrial dysfunctions syndrome type 3 - - Disease - - - - - - - - 401869 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401869 - Multiple mitochondrial dysfunctions syndrome type 1 - - Disease - - - - - - - - 401874 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401874 - Multiple mitochondrial dysfunctions syndrome type 2 - - Disease - - - - - - - - 457406 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457406 - Multiple mitochondrial dysfunctions syndrome type 4 - - Disease - - - - - - - - - - 351 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=351 - Galactosialidosis - - Disease - - - - - - - - 2116 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2116 - Hartnup disease - - Disease - - - - - - - - 506 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=506 - Leigh syndrome - - Disease - - - - - - - - 834 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=834 - Free sialic acid storage disease - - Disease - - - - - - 309324 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309324 - Free sialic acid storage disease, infantile form - - Clinical subtype - - - - - - - - 309331 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309331 - Intermediate severe Salla disease - - Clinical subtype - - - - - - - - 309334 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309334 - Salla disease - - Clinical subtype - - - - - - - - - - 816 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=816 - Sjögren-Larsson syndrome - - Disease - - - - - - - - 909 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=909 - Cerebrotendinous xanthomatosis - - Disease - - - - - - - - 716 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=716 - Phenylketonuria - - Disease - - - - - - 79253 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79253 - Mild phenylketonuria - - Clinical subtype - - - - - - - - 79254 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79254 - Classic phenylketonuria - - Clinical subtype - - - - - - - - 79651 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79651 - Mild hyperphenylalaninemia - - Clinical subtype - - - - - - - - 293284 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293284 - Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria - - Clinical subtype - - - - - - - - - - 354 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=354 - GM1 gangliosidosis - - Disease - - - - - - 79255 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79255 - GM1 gangliosidosis type 1 - - Clinical subtype - - - - - - - - 79256 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79256 - GM1 gangliosidosis type 2 - - Clinical subtype - - - - - - - - 79257 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79257 - GM1 gangliosidosis type 3 - - Clinical subtype - - - - - - - - - - 216 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216 - Neuronal ceroid lipofuscinosis - - Clinical group - - - - - - 228329 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228329 - CLN1 disease - - Disease - - - - - - 699718 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699718 - Infantile CLN1 disease - - Clinical subtype - - - - - - - - 699739 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699739 - Juvenile CLN1 disease - - Clinical subtype - - - - - - - - 699745 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699745 - Adult CLN1 disease - - Clinical subtype - - - - - - - - 699734 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699734 - Late infantile CLN1 disease - - Clinical subtype - - - - - - - - - - 228349 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228349 - CLN2 disease - - Disease - - - - - - 699751 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699751 - Infantile CLN2 disease - - Clinical subtype - - - - - - - - 699769 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699769 - Juvenile CLN2 disease - - Clinical subtype - - - - - - - - 699761 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699761 - Late infantile CLN2 disease - - Clinical subtype - - - - - - - - - - 228346 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228346 - CLN3 disease - - Disease - - - - - - 699780 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699780 - Juvenile CLN3 disease - - Clinical subtype - - - - - - - - 699796 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699796 - Protracted juvenile CLN3 disease - - Clinical subtype - - - - - - - - - - 228343 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228343 - CLN4 disease - - Disease - - - - - - - - 314632 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314632 - CLN12 disease - - Disease - - - - - - - - 314629 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314629 - CLN11 disease - - Disease - - - - - - - - 699708 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699708 - CLN14 disease - - Disease - - - - - - - - 228360 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228360 - CLN5 disease - - Disease - - - - - - 699802 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699802 - Late infantile CLN5 disease - - Clinical subtype - - - - - - - - 699807 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699807 - Juvenile CLN5 disease - - Clinical subtype - - - - - - - - 699812 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699812 - Adult CLN5 disease - - Clinical subtype - - - - - - - - - - 228363 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228363 - CLN6 disease - - Disease - - - - - - 700477 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700477 - Adult CLN6 disease - - Clinical subtype - - - - - - - - 700467 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700467 - Late infantile CLN6 disease - - Clinical subtype - - - - - - - - 700472 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700472 - Juvenile CLN6 disease - - Clinical subtype - - - - - - - - - - 228366 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228366 - CLN7 disease - - Disease - - - - - - - - 228354 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228354 - CLN8 disease - - Disease - - - - - - 700484 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700484 - Late infantile CLN8 disease - - Clinical subtype - - - - - - - - 1947 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1947 - Northern epilepsy - - Clinical subtype - - - - - - - - - - 352709 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352709 - CLN13 disease - - Disease - - - - - - - - 228337 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228337 - CLN10 disease - - Disease - - - - - - 700487 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700487 - Congenital CLN10 disease - - Clinical subtype - - - - - - - - 700492 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700492 - Late infantile CLN10 disease - - Clinical subtype - - - - - - - - 700497 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700497 - Juvenile CLN10 disease - - Clinical subtype - - - - - - - - - - - - 581 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=581 - Mucopolysaccharidosis type 3 - - Disease - - - - - - 79269 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79269 - Sanfilippo syndrome type A - - Etiological subtype - - - - - - - - 79270 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79270 - Sanfilippo syndrome type B - - Etiological subtype - - - - - - - - 79271 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79271 - Sanfilippo syndrome type C - - Etiological subtype - - - - - - - - 79272 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79272 - Sanfilippo syndrome type D - - Etiological subtype - - - - - - - - - - 3137 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3137 - Alpha-N-acetylgalactosaminidase deficiency - - Disease - - - - - - 79279 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79279 - Alpha-N-acetylgalactosaminidase deficiency type 1 - - Clinical subtype - - - - - - - - 79280 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79280 - Alpha-N-acetylgalactosaminidase deficiency type 2 - - Clinical subtype - - - - - - - - 79281 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79281 - Alpha-N-acetylgalactosaminidase deficiency type 3 - - Clinical subtype - - - - - - - - - - 43 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=43 - X-linked adrenoleukodystrophy - - Disease - - - - - - 139396 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139396 - X-linked cerebral adrenoleukodystrophy - - Clinical subtype - - - - - - - - 139399 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139399 - Adrenomyeloneuropathy - - Clinical subtype - - - - - - - - - - 646 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=646 - Niemann-Pick disease type C - - Disease - - - - - - 216972 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216972 - Niemann-Pick disease type C, severe perinatal form - - Clinical subtype - - - - - - - - 216975 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216975 - Niemann-Pick disease type C, severe early infantile neurologic onset - - Clinical subtype - - - - - - - - 216978 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216978 - Niemann-Pick disease type C, late infantile neurologic onset - - Clinical subtype - - - - - - - - 216981 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216981 - Niemann-Pick disease type C, juvenile neurologic onset - - Clinical subtype - - - - - - - - 216986 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216986 - Niemann-Pick disease type C, adult neurologic onset - - Clinical subtype - - - - - - - - - - 3006 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3006 - Pyridoxine-dependent-developmental and epileptic encephalopathy - - Disease - - - - - - - - 31 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=31 - Oxoglutaric aciduria - - Disease - - - - - - - - 382 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=382 - Guanidinoacetate methyltransferase deficiency - - Disease - - - - - - - - 726 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=726 - Alpers-Huttenlocher syndrome - - Disease - - - - - - - - 2388 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2388 - Choreoacanthocytosis - - Disease - - - - - - - - 2962 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2962 - De Barsy syndrome - - Disease - - - - - - 35664 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35664 - ALDH18A1-related De Barsy syndrome - - Etiological subtype - - - - - - - - 293633 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293633 - PYCR1-related De Barsy syndrome - - Etiological subtype - - - - - - - - - - 3057 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3057 - Monoamine oxidase A deficiency - - Disease - - - - - - - - 3197 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3197 - Hereditary hyperekplexia - - Disease - - - - - - - - 19 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=19 - 2-hydroxyglutaric aciduria - - Clinical group - - - - - - 79314 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79314 - L-2-hydroxyglutaric aciduria - - Disease - - - - - - - - 79315 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79315 - D-2-hydroxyglutaric aciduria - - Disease - - - - - - - - 356978 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=356978 - D,L-2-hydroxyglutaric aciduria - - Disease - - - - - - - - - - 622 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=622 - Homocystinuria without methylmalonic aciduria - - Disease - - - - - - 2169 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2169 - Methylcobalamin deficiency type cblE - - Clinical subtype - - - - - - - - 2170 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2170 - Methylcobalamin deficiency type cblG - - Clinical subtype - - - - - - - - 308380 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308380 - Methylcobalamin deficiency type cblDv1 - - Clinical subtype - - - - - - - - - - 24 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=24 - Fumaric aciduria - - Disease - - - - - - - - 407 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=407 - Glycine encephalopathy - - Disease - - - - - - 289857 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289857 - Neonatal glycine encephalopathy - - Clinical subtype - - - - - - - - 289860 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289860 - Infantile glycine encephalopathy - - Clinical subtype - - - - - - - - 289863 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289863 - Atypical glycine encephalopathy - - Clinical subtype - - - - - - - - - - 25 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=25 - Glutaryl-CoA dehydrogenase deficiency - - Disease - - - - - - - - 177 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=177 - Rhizomelic chondrodysplasia punctata - - Disease - - - - - - 309803 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309803 - Rhizomelic chondrodysplasia punctata type 3 - - Etiological subtype - - - - - - - - 309789 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309789 - Rhizomelic chondrodysplasia punctata type 1 - - Etiological subtype - - - - - - - - 309796 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309796 - Rhizomelic chondrodysplasia punctata type 2 - - Etiological subtype - - - - - - - - 468717 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=468717 - Rhizomelic chondrodysplasia punctata type 5 - - Etiological subtype - - - - - - - - - - 2066 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2066 - Gamma-aminobutyric acid transaminase deficiency - - Disease - - - - - - - - 419 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=419 - Hyperprolinemia type 1 - - Disease - - - - - - - - 230 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=230 - Dopamine beta-hydroxylase deficiency - - Disease - - - - - - - - 31150 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=31150 - Tangier disease - - Disease - - - - - - - - 35656 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35656 - Coenzyme Q10 deficiency - - Clinical group - - - - - - 139485 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139485 - Autosomal recessive ataxia due to ubiquinone deficiency - - Disease - - - - - - - - 254898 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254898 - Deafness-encephaloneuropathy-obesity-valvulopathy syndrome - - Disease - - - - - - - - 280406 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280406 - Familial steroid-resistant nephrotic syndrome with sensorineural deafness - - Disease - - - - - - - - 319678 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319678 - Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome - - Disease - - - - - - - - 457185 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457185 - Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome - - Disease - - - - - - - - 658778 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=658778 - COQ7-related distal hereditary motor neuropathy - - Disease - - - - - - - - - - 35704 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35704 - L-Arginine:glycine amidinotransferase deficiency - - Disease - - - - - - - - 35705 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35705 - Neurometabolic disorder due to serine deficiency - - Category - - - - - - 2671 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2671 - Neu-Laxova syndrome - - Malformation syndrome - - - - - - 583602 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=583602 - Neu-Laxova syndrome due to phosphoserine aminotransferase deficiency - - Etiological subtype - - - - - - - - 583607 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=583607 - Neu-Laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency - - Etiological subtype - - - - - - - - 583612 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=583612 - Neu-Laxova syndrome due to 3-phosphoserine phosphatase deficiency - - Etiological subtype - - - - - - - - - - 447997 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447997 - Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome - - Disease - - - - - - - - 583595 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=583595 - Serine biosynthesis pathway deficiency, infantile/juvenile form - - Disease - - - - - - 79351 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79351 - 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form - - Etiological subtype - - - - - - - - 79350 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79350 - 3-phosphoserine phosphatase deficiency, infantile/juvenile form - - Etiological subtype - - - - - - - - 284417 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284417 - Phosphoserine aminotransferase deficiency, infantile/juvenile form - - Etiological subtype - - - - - - - - - - - - 35708 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35708 - Aromatic L-amino acid decarboxylase deficiency - - Disease - - - - - - - - 52503 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52503 - X-linked creatine transporter deficiency - - Disease - - - - - - - - 59306 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=59306 - McLeod neuroacanthocytosis syndrome - - Disease - - - - - - - - 65284 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65284 - Biotin-thiamine-responsive basal ganglia disease - - Disease - - - - - - - - 65287 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65287 - Beta-ureidopropionase deficiency - - Disease - - - - - - - - 71212 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71212 - Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency - - Disease - - - - - - - - 71277 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71277 - Classic glucose transporter type 1 deficiency syndrome - - Disease - - - - - - - - 71278 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71278 - Congenital brain dysgenesis due to glutamine synthetase deficiency - - Disease - - - - - - - - 77260 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77260 - Gaucher disease type 2 - - Clinical subtype - - - - - - - - 77261 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77261 - Gaucher disease type 3 - - Clinical subtype - - - - - - - - 77292 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77292 - Infantile neurovisceral acid sphingomyelinase deficiency - - Disease - - - - - - - - 79096 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79096 - Pyridoxamine-5-phosphate deficiency-developmental and epileptic encephalopathy - - Disease - - - - - - - - 79097 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79097 - Folinic acid-responsive seizures - - Disease - - - - - - - - 79101 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79101 - Hyperprolinemia type 2 - - Disease - - - - - - - - 79155 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79155 - Hydroxykynureninuria - - Disease - - - - - - - - 79157 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79157 - 2-methylbutyryl-CoA dehydrogenase deficiency - - Disease - - - - - - - - 79189 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79189 - Peroxisome biogenesis disorder - - Clinical group - - - - - - 912 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=912 - Zellweger syndrome - - Disease - - - - - - - - 44 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=44 - Neonatal adrenoleukodystrophy - - Disease - - - - - - - - 772 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=772 - Infantile Refsum disease - - Disease - - - - - - - - - - 88639 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88639 - Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency - - Disease - - - - - - - - 137754 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137754 - Aminoacylase 1 deficiency - - Disease - - - - - - - - 139406 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139406 - Encephalopathy due to prosaposin deficiency - - Disease - - - - - - - - 166105 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166105 - FASTKD2-related infantile mitochondrial encephalomyopathy - - Disease - - - - - - - - 168598 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168598 - Methionine adenosyltransferase I/III deficiency - - Disease - - - - - - - - 206428 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206428 - Hypoxanthine-guanine phosphoribosyltransferase deficiency - - Clinical group - - - - - - 510 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=510 - Lesch-Nyhan syndrome - - Disease - - - - - - - - 79233 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79233 - Hypoxanthine guanine phosphoribosyltransferase partial deficiency - - Disease - - - - - - - - - - 210128 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210128 - Urocanic aciduria - - Disease - - - - - - - - 238329 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238329 - Severe X-linked mitochondrial encephalomyopathy - - Disease - - - - - - - - 254803 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254803 - Mitochondrial DNA depletion syndrome, encephalomyopathic form - - Clinical group - - - - - - 1933 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1933 - Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria - - Disease - - - - - - - - 17 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=17 - Fatal infantile lactic acidosis with methylmalonic aciduria - - Disease - - - - - - - - 255235 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=255235 - Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy - - Disease - - - - - - - - 369897 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369897 - Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies - - Disease - - - - - - - - - - 255210 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=255210 - Mitochondrial DNA-associated Leigh syndrome - - Disease - - - - - - - - 289290 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289290 - Hypermethioninemia encephalopathy due to adenosine kinase deficiency - - Disease - - - - - - - - 300313 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300313 - Congenital cataract-hearing loss-severe developmental delay syndrome - - Disease - - - - - - - - 309152 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309152 - GM2 gangliosidosis - - Clinical group - - - - - - 796 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=796 - Sandhoff disease - - Disease - - - - - - 309155 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309155 - Sandhoff disease, infantile form - - Clinical subtype - - - - - - - - 309162 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309162 - Sandhoff disease, juvenile form - - Clinical subtype - - - - - - - - 309169 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309169 - Sandhoff disease, adult form - - Clinical subtype - - - - - - - - - - 845 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=845 - Tay-Sachs disease - - Disease - - - - - - 309178 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309178 - Tay-Sachs disease, infantile form - - Clinical subtype - - - - - - - - 309185 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309185 - Tay-Sachs disease, juvenile form - - Clinical subtype - - - - - - - - 309192 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309192 - Tay-Sachs disease, adult form - - Clinical subtype - - - - - - - - - - 309246 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309246 - GM2 gangliosidosis, AB variant - - Disease - - - - - - - - - - 313850 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313850 - Infantile cerebellar-retinal degeneration - - Disease - - - - - - - - 324535 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324535 - Combined oxidative phosphorylation defect type 11 - - Disease - - - - - - - - 329336 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329336 - Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy - - Disease - - - - - - - - 79156 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79156 - Seizures-intellectual disability due to hydroxylysinuria syndrome - - Disease - - - - - - - - 352328 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352328 - MEGDEL syndrome - - Disease - - - - - - - - 352333 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352333 - Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome - - Disease - - - - - - - - 742 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=742 - Prolidase deficiency - - Disease - - - - - - - - 363534 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363534 - Mitochondrial DNA depletion syndrome, hepatocerebrorenal form - - Disease - - - - - - - - 369942 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369942 - CADDS - - Disease - - - - - - - - 371047 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=371047 - Congenital disorder of glycosylation with neurological involvement - - Category - - - - - - 464443 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464443 - COG6-CGD - - Disease - - - - - - - - 692790 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=692790 - ATP6AP1-CDG - - Disease - - - - - - - - 565899 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=565899 - POMGNT2-related limb-girdle muscular dystrophy R24 - - Disease - - - - - - - - 370930 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370930 - XYLT1-CDG - - Disease - - - - - - - - 2953 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2953 - Musculocontractural Ehlers-Danlos syndrome - - Disease - - - - - - - - 602 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=602 - GNE myopathy - - Disease - - - - - - - - 34515 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=34515 - FKRP-related limb-girdle muscular dystrophy R9 - - Disease - - - - - - - - 79324 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79324 - ALG12-CDG - - Disease - - - - - - - - 79332 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79332 - B4GALT1-CDG - - Disease - - - - - - - - 206554 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206554 - Fukutin-related limb-girdle muscular dystrophy R13 - - Disease - - - - - - - - 206564 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206564 - POMGNT1-related limb-girdle muscular dystrophy R15 - - Disease - - - - - - - - 263494 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263494 - DPM3-CDG - - Disease - - - - - - - - 263516 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263516 - Progressive myoclonic epilepsy type 3 - - Disease - - - - - - - - 300536 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300536 - DDOST-CDG - - Disease - - - - - - - - 314667 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314667 - TMEM165-CDG - - Disease - - - - - - - - 353327 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353327 - Congenital myasthenic syndromes with glycosylation defect - - Etiological subtype - - - - - - - - 370980 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370980 - Congenital muscular dystrophy without intellectual disability - - Disease - - - - - - - - 371071 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=371071 - Congenital disorder of glycosylation with epilepsy as a major feature - - Category - - - - - - 79322 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79322 - DPM1-CDG - - Disease - - - - - - - - 79323 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79323 - MPDU1-CDG - - Disease - - - - - - - - 79326 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79326 - ALG2-CDG - - Disease - - - - - - - - 79327 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79327 - ALG1-CDG - - Disease - - - - - - - - 79328 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79328 - ALG9-CDG - - Disease - - - - - - - - 79330 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79330 - MOGS-CDG - - Disease - - - - - - - - 79333 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79333 - COG7-CDG - - Disease - - - - - - - - 83639 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83639 - Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency - - Disease - - - - - - - - 86309 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86309 - DPAGT1-CDG - - Disease - - - - - - - - 95428 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95428 - COG8-CDG - - Disease - - - - - - - - 99843 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99843 - Leukocyte adhesion deficiency type II - - Clinical subtype - - - - - - - - 238459 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238459 - SLC35A1-CDG - - Disease - - - - - - - - 244310 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=244310 - RFT1-CDG - - Disease - - - - - - - - 263501 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263501 - COG4-CDG - - Disease - - - - - - - - 280071 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280071 - ALG11-CDG - - Disease - - - - - - - - 280633 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280633 - Multiple congenital anomalies-hypotonia-seizures syndrome - - Malformation syndrome - - - - - - - - 300496 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300496 - Multiple congenital anomalies-hypotonia-seizures syndrome type 2 - - Malformation syndrome - - - - - - - - 324422 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324422 - ALG13-CDG - - Disease - - - - - - - - 329178 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329178 - Congenital muscular dystrophy with intellectual disability and severe epilepsy - - Disease - - - - - - - - 356961 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=356961 - SLC35A2-CDG - - Disease - - - - - - - - 357058 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357058 - Autosomal recessive cutis laxa type 2A - - Disease - - - - - - 2834 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2834 - Wrinkly skin syndrome - - Clinical subtype - - - - - - - - 357074 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357074 - Autosomal recessive cutis laxa type 2, classic type - - Clinical subtype - - - - - - - - - - 370921 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370921 - STT3A-CDG - - Disease - - - - - - - - 370924 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370924 - STT3B-CDG - - Disease - - - - - - - - 370927 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370927 - SSR4-CDG - - Disease - - - - - - - - 370933 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370933 - GM3 synthase deficiency - - Disease - - - - - - - - 370943 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370943 - Autism spectrum disorder-epilepsy-arthrogryposis syndrome - - Disease - - - - - - - - 3474 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3474 - CHIME syndrome - - Malformation syndrome - - - - - - - - 272 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=272 - Congenital muscular dystrophy, Fukuyama type - - Malformation syndrome - - - - - - - - 899 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=899 - Walker-Warburg syndrome - - Disease - - - - - - - - 588 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=588 - Muscle-eye-brain disease - - Malformation syndrome - - - - - - - - 79318 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79318 - PMM2-CDG - - Disease - - - - - - - - 79320 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79320 - ALG6-CDG - - Disease - - - - - - - - 79321 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79321 - ALG3-CDG - - Disease - - - - - - - - 488635 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488635 - Early-onset epilepsy-intellectual disability-brain anomalies syndrome - - Disease - - - - - - - - 466926 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466926 - Seizures-scoliosis-macrocephaly syndrome - - Disease - - - - - - - - - - 435934 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435934 - COG2-CDG - - Disease - - - - - - - - 709 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=709 - Peters plus syndrome - - Malformation syndrome - - - - - - - - 79325 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79325 - ALG8-CDG - - Disease - - - - - - - - 79329 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79329 - MGAT2-CDG - - Disease - - - - - - - - 86812 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86812 - POMT1-related limb-girdle muscular dystrophy R11 - - Disease - - - - - - - - 206559 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206559 - POMT2-related limb-girdle muscular dystrophy R14 - - Disease - - - - - - - - 263487 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263487 - COG5-CDG - - Disease - - - - - - - - 263508 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263508 - COG1-CDG - - Disease - - - - - - - - 280333 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280333 - Alpha-dystroglycan-related limb-girdle muscular dystrophy R16 - - Disease - - - - - - - - 324737 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324737 - SRD5A3-CDG - - Disease - - - - - - - - 352479 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352479 - ISPD-related limb-girdle muscular dystrophy R20 - - Disease - - - - - - - - 363417 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363417 - Temtamy preaxial brachydactyly syndrome - - Malformation syndrome - - - - - - - - 363623 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363623 - GMPPB-related limb-girdle muscular dystrophy R19 - - Disease - - - - - - - - 370959 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370959 - Congenital muscular dystrophy with cerebellar involvement - - Disease - - - - - - - - 370968 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370968 - Congenital muscular dystrophy with intellectual disability - - Disease - - - - - - - - 397941 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397941 - MAN1B1-CDG - - Disease - - - - - - - - - - 391348 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391348 - Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome - - Disease - - - - - - - - 391376 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391376 - Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome - - Disease - - - - - - - - 391417 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391417 - HSD10 disease - - Disease - - - - - - 85295 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85295 - HSD10 disease, atypical type - - Clinical subtype - - - - - - - - 391428 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391428 - HSD10 disease, infantile type - - Clinical subtype - - - - - - - - 391457 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391457 - HSD10 disease, neonatal type - - Clinical subtype - - - - - - - - - - 420728 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420728 - Combined oxidative phosphorylation defect type 20 - - Disease - - - - - - - - 420733 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420733 - Combined oxidative phosphorylation defect type 21 - - Disease - - - - - - - - 423479 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423479 - X-linked intellectual disability-limb spasticity-retinal dystrophy-arginine vasopressin deficiency - - Disease - - - - - - - - 431361 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=431361 - Progressive encephalopathy with leukodystrophy due to DECR deficiency - - Disease - - - - - - - - 436271 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436271 - Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy - - Disease - - - - - - - - 438178 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=438178 - Fatty acyl-CoA reductase 1 deficiency - - Disease - - - - - - - - 444013 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444013 - Combined oxidative phosphorylation defect type 23 - - Disease - - - - - - - - 445038 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=445038 - 3-methylglutaconic aciduria-neonatal cataract-neurologic involvement-congenital neutropenia syndrome - - Disease - - - - - - - - 445110 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=445110 - Limb-girdle muscular dystrophy due to POMK deficiency - - Disease - - - - - - - - 447784 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447784 - Mitochondrial pyruvate carrier deficiency - - Disease - - - - - - - - 642965 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642965 - Autosomal recessive ataxia due to PEX2 deficiency - - Disease - - - - - - - - 505208 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=505208 - 3-methylglutaconic aciduria type 8 - - Disease - - - - - - - - 505216 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=505216 - 3-methylglutaconic aciduria type 9 - - Disease - - - - - - - - 508093 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508093 - MEPAN syndrome - - Malformation syndrome - - - - - - - - 477774 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477774 - Combined oxidative phosphorylation defect type 27 - - Disease - - - - - - - - 457050 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457050 - Autosomal dominant mitochondrial myopathy with exercise intolerance - - Disease - - - - - - - - 457375 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457375 - ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement - - Disease - - - - - - - - 478049 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=478049 - Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome - - Disease - - - - - - - - 497623 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=497623 - C12ORF65-related combined oxidative phosphorylation defect - - Clinical group - - - - - - 254930 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254930 - Combined oxidative phosphorylation defect type 7 - - Disease - - - - - - - - 320375 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=320375 - Autosomal recessive spastic paraplegia type 55 - - Disease - - - - - - - - - - 502444 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=502444 - Alkaline ceramidase 3 deficiency - - Disease - - - - - - - - 401859 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401859 - Lipoic acid synthetase deficiency - - Disease - - - - - - - - 436174 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436174 - Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome - - Disease - - - - - - - - 45 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=45 - Adenosine monophosphate deaminase deficiency - - Disease - - - - - - - - 306511 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306511 - Autosomal recessive spastic paraplegia type 48 - - Disease - - - - - - - - 466722 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466722 - Autosomal recessive spastic paraplegia type 77 - - Disease - - - - - - - - 217396 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217396 - Progressive polyneuropathy with bilateral striatal necrosis - - Disease - - - - - - - - 662216 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662216 - Mucopolysaccharidosis type 10 - - Disease - - - - - - - - 447954 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447954 - Combined oxidative phosphorylation defect type 25 - - Disease - - - - - - - - 456369 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=456369 - Polyglucosan body myopathy type 2 - - Disease - - - - - - - - 397937 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397937 - Polyglucosan body myopathy type 1 - - Disease - - - - - - - - 401866 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401866 - Childhood-onset spasticity with hyperglycinemia - - Disease - - - - - - - - 478042 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=478042 - Combined oxidative phosphorylation defect type 30 - - Disease - - - - - - - - 642954 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642954 - Autosomal recessive ataxia due to PEX16 deficiency - - Disease - - - - - - - - 247815 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247815 - Autosomal recessive ataxia due to PEX10 deficiency - - Disease - - - - - - - - 527276 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=527276 - Encephalopathy due to mitochondrial and peroxisomal fission defect - - Disease - - - - - - 330050 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=330050 - DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect - - Etiological subtype - - - - - - - - 485421 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=485421 - MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect - - Etiological subtype - - - - - - - - - - 542585 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=542585 - Auditory neuropathy-optic atrophy syndrome - - Disease - - - - - - - - 557064 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=557064 - Neonatal epileptic encephalopathy due to glutaminase deficiency - - Disease - - - - - - - - 543470 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=543470 - Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome - - Disease - - - - - - - - 565624 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=565624 - Combined oxidative phosphorylation defect type 39 - - Disease - - - - - - - - 597874 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=597874 - MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome - - Disease - - - - - - - - 572798 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572798 - WARS2-related combined oxidative phosphorylation defect - - Disease - - - - - - - - 619979 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=619979 - Developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome - - Disease - - - - - - - - 217382 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217382 - Neurodegenerative syndrome due to cerebral folate transport deficiency - - Disease - - - - - - - - - - 46348 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=46348 - Paroxysmal extreme pain disorder - - Disease - - - - - - - - 69739 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69739 - Athabaskan brainstem dysgenesis syndrome - - Disease - - - - - - - - 98497 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98497 - Genetic peripheral neuropathy - - Category - - - - - - 459033 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=459033 - Ataxia-oculomotor apraxia type 4 - - Disease - - - - - - - - 166 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166 - Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy - - Category - - - - - - 64747 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64747 - X-linked Charcot-Marie-Tooth disease - - Clinical group - - - - - - 99014 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99014 - X-linked Charcot-Marie-Tooth disease type 5 - - Disease - - - - - - - - 101075 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101075 - X-linked Charcot-Marie-Tooth disease type 1 - - Disease - - - - - - - - 101076 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101076 - X-linked Charcot-Marie-Tooth disease type 2 - - Disease - - - - - - - - 101077 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101077 - X-linked Charcot-Marie-Tooth disease type 3 - - Disease - - - - - - - - 101078 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101078 - X-linked Charcot-Marie-Tooth disease type 4 - - Disease - - - - - - - - 352675 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352675 - X-linked Charcot-Marie-Tooth disease type 6 - - Disease - - - - - - - - - - 2926 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2926 - Digital extensor muscle aplasia-polyneuropathy - - Malformation syndrome - - - - - - - - 431320 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=431320 - Spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder - - Clinical group - - - - - - 320406 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=320406 - Spastic paraplegia-optic atrophy-neuropathy syndrome - - Disease - - - - - - - - 431329 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=431329 - Autosomal recessive spastic paraplegia type 57 - - Disease - - - - - - - - 468661 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=468661 - Autosomal recessive spastic paraplegia type 74 - - Disease - - - - - - - - 320375 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=320375 - Autosomal recessive spastic paraplegia type 55 - - Disease - - - - - - - - - - 476109 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=476109 - Axonal hereditary motor and sensory neuropathy - - Clinical group - - - - - - 91024 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91024 - Autosomal recessive axonal hereditary motor and sensory neuropathy - - Clinical group - - - - - - 466775 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466775 - Autosomal recessive Charcot-Marie-Tooth disease type 2X - - Disease - - - - - - - - 466794 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466794 - Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome - - Disease - - - - - - - - 101101 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101101 - Charcot-Marie-Tooth disease type 2B2 - - Disease - - - - - - - - 101102 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101102 - Charcot-Marie-Tooth disease type 2H - - Disease - - - - - - - - 228374 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228374 - Charcot-Marie-Tooth disease type 2B5 - - Disease - - - - - - - - 300319 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300319 - Autosomal dominant Charcot-Marie-Tooth disease type 2P - - Disease - - - - - - - - 324442 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324442 - Autosomal recessive axonal neuropathy with neuromyotonia - - Disease - - - - - - - - 397968 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397968 - Charcot-Marie-Tooth disease type 2R - - Disease - - - - - - - - 423894 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423894 - Microcephaly-complex motor and sensory axonal neuropathy syndrome - - Disease - - - - - - - - 443073 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443073 - Charcot-Marie-Tooth disease type 2S - - Disease - - - - - - - - 443950 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443950 - DNAJB2-related Charcot-Marie-Tooth disease type 2 - - Disease - - - - - - - - 90118 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90118 - Severe early-onset axonal neuropathy due to MFN2 deficiency - - Disease - - - - - - - - 90119 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90119 - Hereditary motor and sensory neuropathy with acrodystrophy - - Disease - - - - - - - - 98856 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98856 - Charcot-Marie-Tooth disease type 2B1 - - Disease - - - - - - - - 101097 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101097 - Autosomal recessive Charcot-Marie-Tooth disease with hoarseness - - Disease - - - - - - - - 457205 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457205 - Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome - - Disease - - - - - - - - 90120 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90120 - Hereditary motor and sensory neuropathy type 6 - - Disease - - - - - - - - 495274 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=495274 - Charcot-Marie-Tooth disease type 2T - - Disease - - - - - - - - 538096 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=538096 - Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy - - Disease - - - - - - - - 538101 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=538101 - Congenital axonal neuropathy with encephalopathy - - Disease - - - - - - - - 521411 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521411 - Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect - - Disease - - - - - - - - 700508 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700508 - Distal muscle weakness-foot deformity-elevated sorbitol level-hereditary motor neuropathy - - Disease - - - - - - - - - - 140456 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140456 - Autosomal dominant hereditary axonal motor and sensory neuropathy - - Category - - - - - - 538574 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=538574 - Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome - - Disease - - - - - - - - 1215 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1215 - Autosomal dominant optic atrophy plus syndrome - - Disease - - - - - - - - 64746 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64746 - Autosomal dominant Charcot-Marie-Tooth disease type 2 - - Clinical group - - - - - - 99936 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99936 - Autosomal dominant Charcot-Marie-Tooth disease type 2B - - Disease - - - - - - - - 99937 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99937 - Autosomal dominant Charcot-Marie-Tooth disease type 2C - - Disease - - - - - - - - 99938 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99938 - Autosomal dominant Charcot-Marie-Tooth disease type 2D - - Disease - - - - - - - - 99939 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99939 - Autosomal dominant Charcot-Marie-Tooth disease type 2E - - Disease - - - - - - - - 99940 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99940 - Autosomal dominant Charcot-Marie-Tooth disease type 2F - - Disease - - - - - - - - 99942 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99942 - Autosomal dominant Charcot-Marie-Tooth disease type 2I - - Disease - - - - - - - - 99943 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99943 - Autosomal dominant Charcot-Marie-Tooth disease type 2J - - Disease - - - - - - - - 99944 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99944 - Autosomal dominant Charcot-Marie-Tooth disease type 2K - - Disease - - - - - - - - 99945 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99945 - Autosomal dominant Charcot-Marie-Tooth disease type 2L - - Disease - - - - - - - - 99946 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99946 - Autosomal dominant Charcot-Marie-Tooth disease type 2A1 - - Disease - - - - - - - - 99947 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99947 - Autosomal dominant Charcot-Marie-Tooth disease type 2A2 - - Disease - - - - - - - - 228174 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228174 - Autosomal dominant Charcot-Marie-Tooth disease type 2N - - Disease - - - - - - - - 228179 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228179 - Autosomal dominant Charcot-Marie-Tooth disease type 2M - - Disease - - - - - - - - 284232 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284232 - Autosomal dominant Charcot-Marie-Tooth disease type 2O - - Disease - - - - - - - - 300319 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300319 - Autosomal dominant Charcot-Marie-Tooth disease type 2P - - Disease - - - - - - - - 324611 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324611 - Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation - - Disease - - - - - - - - 329258 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329258 - Autosomal dominant Charcot-Marie-Tooth disease type 2Q - - Disease - - - - - - - - 397735 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397735 - Autosomal dominant Charcot-Marie-Tooth disease type 2U - - Disease - - - - - - - - 401964 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401964 - Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons - - Disease - - - - - - - - 435387 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435387 - Autosomal dominant Charcot-Marie-Tooth disease type 2Y - - Disease - - - - - - - - 435819 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435819 - Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation - - Disease - - - - - - - - 447964 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447964 - Autosomal dominant Charcot-Marie-Tooth disease type 2V - - Disease - - - - - - - - 466768 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466768 - Autosomal dominant Charcot-Marie-Tooth disease type 2Z - - Disease - - - - - - - - 487814 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=487814 - Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation - - Disease - - - - - - - - 488333 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488333 - Autosomal dominant Charcot-Marie-Tooth disease type 2W - - Disease - - - - - - - - 497757 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=497757 - MME-related autosomal dominant Charcot Marie Tooth disease type 2 - - Disease - - - - - - - - 521414 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521414 - Autosomal dominant Charcot-Marie-Tooth disease type 2DD - - Disease - - - - - - - - - - 64751 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64751 - Hereditary motor and sensory neuropathy type 5 - - Disease - - - - - - - - 90117 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90117 - Hereditary motor and sensory neuropathy, Okinawa type - - Disease - - - - - - - - 90120 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90120 - Hereditary motor and sensory neuropathy type 6 - - Disease - - - - - - - - - - - - 476116 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=476116 - Demyelinating hereditary motor and sensory neuropathy - - Clinical group - - - - - - 140453 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140453 - Autosomal dominant hereditary demyelinating motor and sensory neuropathy - - Category - - - - - - 640 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=640 - Hereditary neuropathy with liability to pressure palsies - - Malformation syndrome - - - - - - - - 3115 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3115 - Roussy-Lévy syndrome - - Disease - - - - - - - - 65753 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65753 - Charcot-Marie-Tooth disease type 1 - - Clinical group - - - - - - 90658 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90658 - Charcot-Marie-Tooth disease type 1E - - Disease - - - - - - - - 101081 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101081 - Charcot-Marie-Tooth disease type 1A - - Disease - - - - - - - - 101082 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101082 - Charcot-Marie-Tooth disease type 1B - - Disease - - - - - - - - 101083 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101083 - Charcot-Marie-Tooth disease type 1C - - Disease - - - - - - - - 101084 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101084 - Charcot-Marie-Tooth disease type 1D - - Disease - - - - - - - - 101085 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101085 - Charcot-Marie-Tooth disease type 1F - - Disease - - - - - - - - - - 84093 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=84093 - Hereditary thermosensitive neuropathy - - Disease - - - - - - - - 139512 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139512 - Neuropathy with hearing impairment - - Disease - - - - - - - - 140481 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140481 - Autosomal dominant slowed nerve conduction velocity - - Disease - - - - - - - - 631248 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=631248 - Mitchell Syndrome - - Disease - - - - - - - - 476394 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=476394 - PMP2-related Charcot-Marie-Tooth disease type 1 - - Disease - - - - - - - - 280598 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280598 - Hereditary sensorimotor neuropathy with hyperelastic skin - - Disease - - - - - - - - 64748 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64748 - Dejerine-Sottas syndrome - - Disease - - - - - - - - 477817 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477817 - PMP22-RAI1 contiguous gene duplication syndrome - - Malformation syndrome - - - - - - - - - - 140459 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140459 - Autosomal recessive hereditary demyelinating motor and sensory neuropathy - - Category - - - - - - 48431 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=48431 - Congenital cataracts-facial dysmorphism-neuropathy syndrome - - Malformation syndrome - - - - - - - - 64749 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64749 - Charcot-Marie-Tooth disease type 4 - - Clinical group - - - - - - 99948 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99948 - Charcot-Marie-Tooth disease type 4A - - Disease - - - - - - - - 99949 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99949 - Charcot-Marie-Tooth disease type 4C - - Disease - - - - - - - - 99950 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99950 - Charcot-Marie-Tooth disease type 4D - - Disease - - - - - - - - 99951 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99951 - Charcot-Marie-Tooth disease type 4E - - Disease - - - - - - - - 99952 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99952 - Charcot-Marie-Tooth disease type 4F - - Disease - - - - - - - - 99953 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99953 - Charcot-Marie-Tooth disease type 4G - - Disease - - - - - - - - 99954 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99954 - Charcot-Marie-Tooth disease type 4H - - Disease - - - - - - - - 99955 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99955 - Charcot-Marie-Tooth disease type 4B1 - - Disease - - - - - - - - 99956 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99956 - Charcot-Marie-Tooth disease type 4B2 - - Disease - - - - - - - - 139515 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139515 - Charcot-Marie-Tooth disease type 4J - - Disease - - - - - - - - 363981 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363981 - Charcot-Marie-Tooth disease type 4B3 - - Disease - - - - - - - - 391351 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391351 - SURF1-related Charcot-Marie-Tooth disease type 4 - - Disease - - - - - - - - - - 90103 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90103 - Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome - - Malformation syndrome - - - - - - - - 64748 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64748 - Dejerine-Sottas syndrome - - Disease - - - - - - - - 453533 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=453533 - Polyendocrine-polyneuropathy syndrome - - Disease - - - - - - - - 686999 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=686999 - Lipodystrophy-demyelinating peripheral sensory-motor neuropathy syndrome - - Disease - - - - - - - - 456312 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=456312 - Infantile multisystem neurologic-endocrine-pancreatic disease - - Disease - - - - - - - - - - - - 476123 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=476123 - Intermediate Charcot-Marie-Tooth disease - - Clinical group - - - - - - 90114 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90114 - Autosomal dominant intermediate Charcot-Marie-Tooth disease - - Clinical group - - - - - - 93114 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93114 - Autosomal dominant intermediate Charcot-Marie-Tooth disease type E - - Disease - - - - - - - - 100043 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100043 - Autosomal dominant intermediate Charcot-Marie-Tooth disease type A - - Disease - - - - - - - - 100044 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100044 - Autosomal dominant intermediate Charcot-Marie-Tooth disease type B - - Disease - - - - - - - - 100045 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100045 - Autosomal dominant intermediate Charcot-Marie-Tooth disease type C - - Disease - - - - - - - - 100046 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100046 - Autosomal dominant intermediate Charcot-Marie-Tooth disease type D - - Disease - - - - - - - - 324585 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324585 - Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain - - Disease - - - - - - - - 352670 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352670 - Autosomal dominant intermediate Charcot-Marie-Tooth disease type F - - Disease - - - - - - - - - - 268337 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268337 - Autosomal recessive intermediate Charcot-Marie-Tooth disease - - Clinical group - - - - - - 217055 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217055 - Autosomal recessive intermediate Charcot-Marie-Tooth disease type A - - Disease - - - - - - - - 254334 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254334 - Autosomal recessive intermediate Charcot-Marie-Tooth disease type B - - Disease - - - - - - - - 369867 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369867 - Autosomal recessive intermediate Charcot-Marie-Tooth disease type C - - Disease - - - - - - - - 435998 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435998 - Autosomal recessive intermediate Charcot-Marie-Tooth disease type D - - Disease - - - - - - - - - - - - - - 643 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=643 - Giant axonal neuropathy - - Disease - - - - - - - - 2809 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2809 - Familial recurrent peripheral facial palsy - - Disease - - - - - - - - 35069 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35069 - Infantile neuroaxonal dystrophy - - Disease - - - - - - - - 53739 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53739 - Distal hereditary motor neuropathy - - Clinical group - - - - - - 140465 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140465 - Autosomal dominant distal hereditary motor neuropathy - - Category - - - - - - 1216 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1216 - Autosomal dominant congenital benign spinal muscular atrophy - - Disease - - - - - - - - 100998 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100998 - Autosomal dominant spastic paraplegia type 17 - - Disease - - - - - - - - 139518 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139518 - Distal hereditary motor neuropathy type 1 - - Disease - - - - - - - - 139525 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139525 - Distal hereditary motor neuropathy type 2 - - Disease - - - - - - - - 139536 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139536 - Distal hereditary motor neuropathy type 5 - - Disease - - - - - - - - 139589 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139589 - Distal hereditary motor neuropathy type 7 - - Disease - - - - - - - - 397744 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397744 - Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome - - Disease - - - - - - - - 476093 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=476093 - Autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome - - Disease - - - - - - - - - - 140468 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140468 - Autosomal recessive distal hereditary motor neuropathy - - Category - - - - - - 496756 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=496756 - Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome - - Disease - - - - - - - - 98920 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98920 - Spinal muscular atrophy with respiratory distress type 1 - - Disease - - - - - - - - 139547 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139547 - Distal spinal muscular atrophy type 3 - - Disease - - - - - - - - 139552 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139552 - Distal hereditary motor neuropathy, Jerash type - - Disease - - - - - - - - 314485 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314485 - Young adult-onset distal hereditary motor neuropathy - - Disease - - - - - - - - 658778 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=658778 - COQ7-related distal hereditary motor neuropathy - - Disease - - - - - - - - - - 404538 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404538 - X-linked distal hereditary motor neuropathy - - Category - - - - - - 1145 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1145 - Infantile-onset X-linked spinal muscular atrophy - - Disease - - - - - - - - 139557 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139557 - X-linked distal spinal muscular atrophy type 3 - - Disease - - - - - - - - 404521 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404521 - Spinal muscular atrophy with respiratory distress type 2 - - Disease - - - - - - - - - - - - 64753 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64753 - Spinocerebellar ataxia with axonal neuropathy type 2 - - Disease - - - - - - - - 94124 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94124 - Spinocerebellar ataxia with axonal neuropathy type 1 - - Disease - - - - - - - - 140471 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140471 - Hereditary sensory and autonomic neuropathy - - Clinical group - - - - - - 139583 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139583 - X-linked hereditary sensory and autonomic neuropathy with deafness - - Disease - - - - - - - - 140474 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140474 - Autosomal dominant hereditary sensory and autonomic neuropathy - - Category - - - - - - 36386 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36386 - Hereditary sensory and autonomic neuropathy type 1 - - Disease - - - - - - - - 90026 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90026 - Primary erythromelalgia - - Disease - - - - - - - - 139564 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139564 - Hereditary sensory and autonomic neuropathy type 1B - - Disease - - - - - - - - 391397 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391397 - Hereditary sensory and autonomic neuropathy type 7 - - Disease - - - - - - - - 397606 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397606 - PrP systemic amyloidosis - - Disease - - - - - - - - 456318 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=456318 - Hereditary sensory neuropathy-deafness-dementia syndrome - - Disease - - - - - - - - 653728 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=653728 - Congenital insensitivity to pain syndrome, Marsili type - - Disease - - - - - - - - - - 140477 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140477 - Autosomal recessive hereditary sensory and autonomic neuropathy - - Category - - - - - - 1764 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1764 - Familial dysautonomia - - Disease - - - - - - - - 642 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642 - Hereditary sensory and autonomic neuropathy type 4 - - Disease - - - - - - - - 970 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=970 - Hereditary sensory and autonomic neuropathy type 2 - - Disease - - - - - - - - 64752 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64752 - Hereditary sensory and autonomic neuropathy type 5 - - Disease - - - - - - - - 88642 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88642 - Congenital insensitivity to pain-anosmia-neuropathic arthropathy - - Disease - - - - - - - - 139573 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139573 - Hereditary sensory and autonomic neuropathy with deafness and global delay - - Disease - - - - - - - - 139578 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139578 - Mutilating hereditary sensory neuropathy with spastic paraplegia - - Disease - - - - - - - - 314381 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314381 - Hereditary sensory and autonomic neuropathy type 6 - - Disease - - - - - - - - 401993 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401993 - Cold-induced sweating syndrome-hyperthermia spectrum - - Clinical group - - - - - - 1545 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1545 - Crisponi syndrome - - Malformation syndrome - - - - - - - - 157820 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157820 - Cold-induced sweating syndrome - - Disease - - - - - - - - 603694 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=603694 - KLHL7-related Crisponi/cold-induced sweating-like syndrome - - Disease - - - - - - - - 603684 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=603684 - KLHL7-related Bohring-Opitz-like and Crisponi/Cold-induced sweating-like overlap syndrome - - Malformation syndrome - - - - - - - - - - 320385 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=320385 - Hereditary sensory and autonomic neuropathy due to TECPR2 mutation - - Disease - - - - - - - - 653728 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=653728 - Congenital insensitivity to pain syndrome, Marsili type - - Disease - - - - - - - - 478664 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=478664 - Hereditary sensory and autonomic neuropathy type 8 - - Disease - - - - - - - - 453510 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=453510 - Congenital insensitivity to pain with severe intellectual disability - - Disease - - - - - - - - - - 217399 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217399 - Congenital insensitivity to pain-hyperhidrosis-absence of cutaneous sensory innervation - - Disease - - - - - - - - - - 163746 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163746 - Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease - - Disease - - - - - - - - 169464 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169464 - Primary CD59 deficiency - - Disease - - - - - - - - 207015 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=207015 - Rare hereditary disease with peripheral neuropathy - - Category - - - - - - 167 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=167 - Chédiak-Higashi syndrome - - Disease - - - - - - - - 869 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=869 - Triple A syndrome - - Disease - - - - - - - - 171848 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171848 - Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome - - Disease - - - - - - - - 207018 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=207018 - Rare hereditary metabolic disease with peripheral neuropathy - - Category - - - - - - 118 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=118 - Beta-mannosidosis - - Disease - - - - - - - - 796 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=796 - Sandhoff disease - - Disease - - - - - - 309155 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309155 - Sandhoff disease, infantile form - - Clinical subtype - - - - - - - - 309162 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309162 - Sandhoff disease, juvenile form - - Clinical subtype - - - - - - - - 309169 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309169 - Sandhoff disease, adult form - - Clinical subtype - - - - - - - - - - 324 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324 - Fabry disease - - Disease - - - - - - - - 512 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=512 - Metachromatic leukodystrophy - - Disease - - - - - - 309256 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309256 - Metachromatic leukodystrophy, late infantile form - - Clinical subtype - - - - - - - - 309263 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309263 - Metachromatic leukodystrophy, juvenile form - - Clinical subtype - - - - - - - - 309271 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309271 - Metachromatic leukodystrophy, adult form - - Clinical subtype - - - - - - - - - - 905 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=905 - Wilson disease - - Disease - - - - - - - - 96 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96 - Ataxia with vitamin E deficiency - - Disease - - - - - - - - 14 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=14 - Abetalipoproteinemia - - Disease - - - - - - - - 773 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=773 - Refsum disease - - Disease - - - - - - - - 395 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=395 - Homocystinuria due to methylene tetrahydrofolate reductase deficiency - - Disease - - - - - - - - 909 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=909 - Cerebrotendinous xanthomatosis - - Disease - - - - - - - - 845 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=845 - Tay-Sachs disease - - Disease - - - - - - 309178 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309178 - Tay-Sachs disease, infantile form - - Clinical subtype - - - - - - - - 309185 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309185 - Tay-Sachs disease, juvenile form - - Clinical subtype - - - - - - - - 309192 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309192 - Tay-Sachs disease, adult form - - Clinical subtype - - - - - - - - - - 2388 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2388 - Choreoacanthocytosis - - Disease - - - - - - - - 2962 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2962 - De Barsy syndrome - - Disease - - - - - - 35664 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35664 - ALDH18A1-related De Barsy syndrome - - Etiological subtype - - - - - - - - 293633 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293633 - PYCR1-related De Barsy syndrome - - Etiological subtype - - - - - - - - - - 746 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=746 - Mitochondrial trifunctional protein deficiency - - Disease - - - - - - - - 414 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=414 - Gyrate atrophy of choroid and retina - - Disease - - - - - - - - 882 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=882 - Tyrosinemia type 1 - - Disease - - - - - - - - 5 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=5 - Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency - - Disease - - - - - - - - 31150 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=31150 - Tangier disease - - Disease - - - - - - - - 77293 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77293 - Chronic visceral acid sphingomyelinase deficiency - - Disease - - - - - - - - 79095 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79095 - Congenital bile acid synthesis defect type 4 - - Disease - - - - - - - - 79189 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79189 - Peroxisome biogenesis disorder - - Clinical group - - - - - - 912 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=912 - Zellweger syndrome - - Disease - - - - - - - - 44 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=44 - Neonatal adrenoleukodystrophy - - Disease - - - - - - - - 772 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=772 - Infantile Refsum disease - - Disease - - - - - - - - - - 79241 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79241 - Biotinidase deficiency - - Disease - - - - - - - - 79282 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79282 - Methylmalonic acidemia with homocystinuria, type cblC - - Clinical subtype - - - - - - - - 95157 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95157 - Acute hepatic porphyria - - Clinical group - - - - - - 79273 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79273 - Hereditary coproporphyria - - Disease - - - - - - - - 79276 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79276 - Acute intermittent porphyria - - Disease - - - - - - - - 79473 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79473 - Variegate porphyria - - Disease - - - - - - - - 100924 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100924 - Porphyria due to ALA dehydratase deficiency - - Disease - - - - - - - - - - 139399 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139399 - Adrenomyeloneuropathy - - Clinical subtype - - - - - - - - 206583 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206583 - Adult polyglucosan body disease - - Clinical subtype - - - - - - - - 225703 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=225703 - Mitochondrial disease with peripheral neuropathy - - Category - - - - - - 480 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480 - Kearns-Sayre syndrome - - Disease - - - - - - - - 550 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=550 - MELAS - - Disease - - - - - - - - 551 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=551 - MERRF - - Disease - - - - - - - - 644 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=644 - NARP syndrome - - Disease - - - - - - - - 765 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=765 - Pyruvate dehydrogenase deficiency - - Disease - - - - - - 2394 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2394 - Pyruvate dehydrogenase E3 deficiency - - Clinical subtype - - - - - - - - 79243 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79243 - Pyruvate dehydrogenase E1-alpha deficiency - - Clinical subtype - - - - - - - - 79244 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79244 - Pyruvate dehydrogenase E2 deficiency - - Clinical subtype - - - - - - - - 79246 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79246 - Pyruvate dehydrogenase phosphatase deficiency - - Clinical subtype - - - - - - - - 255138 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=255138 - Pyruvate dehydrogenase E1-beta deficiency - - Clinical subtype - - - - - - - - 255182 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=255182 - Pyruvate dehydrogenase E3-binding protein deficiency - - Clinical subtype - - - - - - - - - - 506 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=506 - Leigh syndrome - - Disease - - - - - - - - 31 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=31 - Oxoglutaric aciduria - - Disease - - - - - - - - 726 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=726 - Alpers-Huttenlocher syndrome - - Disease - - - - - - - - 24 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=24 - Fumaric aciduria - - Disease - - - - - - - - 298 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=298 - Mitochondrial neurogastrointestinal encephalomyopathy - - Disease - - - - - - - - 35656 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35656 - Coenzyme Q10 deficiency - - Clinical group - - - - - - 139485 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139485 - Autosomal recessive ataxia due to ubiquinone deficiency - - Disease - - - - - - - - 254898 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254898 - Deafness-encephaloneuropathy-obesity-valvulopathy syndrome - - Disease - - - - - - - - 280406 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280406 - Familial steroid-resistant nephrotic syndrome with sensorineural deafness - - Disease - - - - - - - - 319678 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319678 - Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome - - Disease - - - - - - - - 457185 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457185 - Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome - - Disease - - - - - - - - 658778 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=658778 - COQ7-related distal hereditary motor neuropathy - - Disease - - - - - - - - - - 70595 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70595 - Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome - - Disease - - - - - - - - 85282 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85282 - MEHMO syndrome - - Malformation syndrome - - - - - - - - 70472 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70472 - Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type - - Disease - - - - - - - - - - 436174 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436174 - Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome - - Disease - - - - - - - - 436271 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436271 - Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy - - Disease - - - - - - - - 543470 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=543470 - Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome - - Disease - - - - - - - - 611237 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=611237 - Parkinsonism with polyneuropathy - - Disease - - - - - - - - 496790 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=496790 - Ocular anomalies-axonal neuropathy-developmental delay syndrome - - Disease - - - - - - - - 521268 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521268 - Sodium-dependent multivitamin transporter deficiency - - Disease - - - - - - - - 527276 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=527276 - Encephalopathy due to mitochondrial and peroxisomal fission defect - - Disease - - - - - - 330050 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=330050 - DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect - - Etiological subtype - - - - - - - - 485421 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=485421 - MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect - - Etiological subtype - - - - - - - - - - - - 207021 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=207021 - Rare hereditary systemic disease with peripheral neuropathy - - Category - - - - - - 31150 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=31150 - Tangier disease - - Disease - - - - - - - - 85447 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85447 - ATTRV30M amyloidosis - - Clinical subtype - - - - - - - - 85448 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85448 - AGel amyloidosis - - Disease - - - - - - - - 485418 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=485418 - EMILIN-1-related connective tissue disease - - Disease - - - - - - - - - - 207025 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=207025 - Rare hereditary neurologic disease with peripheral neuropathy - - Category - - - - - - 207028 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=207028 - Cerebellar ataxia with peripheral neuropathy - - Category - - - - - - 95 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95 - Friedreich ataxia - - Disease - - - - - - - - 559 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=559 - Marinesco-Sjögren syndrome - - Disease - - - - - - - - 48431 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=48431 - Congenital cataracts-facial dysmorphism-neuropathy syndrome - - Malformation syndrome - - - - - - - - 504476 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=504476 - Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome - - Disease - - - - - - - - 694922 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=694922 - Childhood-onset stress-induced neurodegenerative ataxia-seizure syndrome - - Disease - - - - - - - - 589522 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589522 - Spinocerebellar ataxia type 46 - - Disease - - - - - - - - - - 610573 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=610573 - CLCN6-related childhood-onset progressive neurodegeneration-peripheral neuropathy syndrome - - Disease - - - - - - - - 694937 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=694937 - Intellectual disability-peripheral neuropathy-corpus callosum abnormalities syndrome due to nudix hydrolase 2 deficiency - - Malformation syndrome - - - - - - - - 1239 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1239 - Behr syndrome - - Malformation syndrome - - - - - - - - - - 352723 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352723 - Attenuated Chédiak-Higashi syndrome - - Disease - - - - - - - - - - 231013 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231013 - Congenital trigeminal anesthesia - - Disease - - - - - - - - 306577 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306577 - Hereditary sodium channelopathy-related small fibers neuropathy - - Disease - - - - - - - - 391384 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391384 - Familial episodic pain syndrome - - Disease - - - - - - 391389 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391389 - Familial episodic pain syndrome with predominantly upper body involvement - - Clinical subtype - - - - - - - - 391392 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391392 - Familial episodic pain syndrome with predominantly lower limb involvement - - Clinical subtype - - - - - - - - - - - - 158124 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158124 - Genetic dementia - - Category - - - - - - 482072 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=482072 - HTRA1-related cerebral small vessel disease - - Clinical group - - - - - - 199354 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199354 - Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy - - Disease - - - - - - - - 482077 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=482077 - HTRA1-related autosomal dominant cerebral small vessel disease - - Disease - - - - - - - - - - 1980 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1980 - Bilateral striopallidodentate calcinosis - - Disease - - - - - - - - 98543 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98543 - Metabolic disease with dementia - - Category - - - - - - 512 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=512 - Metachromatic leukodystrophy - - Disease - - - - - - 309256 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309256 - Metachromatic leukodystrophy, late infantile form - - Clinical subtype - - - - - - - - 309263 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309263 - Metachromatic leukodystrophy, juvenile form - - Clinical subtype - - - - - - - - 309271 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309271 - Metachromatic leukodystrophy, adult form - - Clinical subtype - - - - - - - - - - 98544 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98544 - Cerebral lipidosis with dementia - - Category - - - - - - 796 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=796 - Sandhoff disease - - Disease - - - - - - 309155 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309155 - Sandhoff disease, infantile form - - Clinical subtype - - - - - - - - 309162 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309162 - Sandhoff disease, juvenile form - - Clinical subtype - - - - - - - - 309169 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309169 - Sandhoff disease, adult form - - Clinical subtype - - - - - - - - - - 909 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=909 - Cerebrotendinous xanthomatosis - - Disease - - - - - - - - 646 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=646 - Niemann-Pick disease type C - - Disease - - - - - - 216972 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216972 - Niemann-Pick disease type C, severe perinatal form - - Clinical subtype - - - - - - - - 216975 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216975 - Niemann-Pick disease type C, severe early infantile neurologic onset - - Clinical subtype - - - - - - - - 216978 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216978 - Niemann-Pick disease type C, late infantile neurologic onset - - Clinical subtype - - - - - - - - 216981 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216981 - Niemann-Pick disease type C, juvenile neurologic onset - - Clinical subtype - - - - - - - - 216986 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216986 - Niemann-Pick disease type C, adult neurologic onset - - Clinical subtype - - - - - - - - - - 845 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=845 - Tay-Sachs disease - - Disease - - - - - - 309178 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309178 - Tay-Sachs disease, infantile form - - Clinical subtype - - - - - - - - 309185 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309185 - Tay-Sachs disease, juvenile form - - Clinical subtype - - - - - - - - 309192 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309192 - Tay-Sachs disease, adult form - - Clinical subtype - - - - - - - - - - 77259 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77259 - Gaucher disease type 1 - - Clinical subtype - - - - - - - - 77260 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77260 - Gaucher disease type 2 - - Clinical subtype - - - - - - - - 206448 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206448 - Adult Krabbe disease - - Clinical subtype - - - - - - - - 77261 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77261 - Gaucher disease type 3 - - Clinical subtype - - - - - - - - - - 216 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216 - Neuronal ceroid lipofuscinosis - - Clinical group - - - - - - 228329 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228329 - CLN1 disease - - Disease - - - - - - 699718 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699718 - Infantile CLN1 disease - - Clinical subtype - - - - - - - - 699739 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699739 - Juvenile CLN1 disease - - Clinical subtype - - - - - - - - 699745 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699745 - Adult CLN1 disease - - Clinical subtype - - - - - - - - 699734 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699734 - Late infantile CLN1 disease - - Clinical subtype - - - - - - - - - - 228349 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228349 - CLN2 disease - - Disease - - - - - - 699751 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699751 - Infantile CLN2 disease - - Clinical subtype - - - - - - - - 699769 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699769 - Juvenile CLN2 disease - - Clinical subtype - - - - - - - - 699761 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699761 - Late infantile CLN2 disease - - Clinical subtype - - - - - - - - - - 228346 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228346 - CLN3 disease - - Disease - - - - - - 699780 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699780 - Juvenile CLN3 disease - - Clinical subtype - - - - - - - - 699796 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699796 - Protracted juvenile CLN3 disease - - Clinical subtype - - - - - - - - - - 228343 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228343 - CLN4 disease - - Disease - - - - - - - - 314632 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314632 - CLN12 disease - - Disease - - - - - - - - 314629 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314629 - CLN11 disease - - Disease - - - - - - - - 699708 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699708 - CLN14 disease - - Disease - - - - - - - - 228360 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228360 - CLN5 disease - - Disease - - - - - - 699802 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699802 - Late infantile CLN5 disease - - Clinical subtype - - - - - - - - 699807 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699807 - Juvenile CLN5 disease - - Clinical subtype - - - - - - - - 699812 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699812 - Adult CLN5 disease - - Clinical subtype - - - - - - - - - - 228363 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228363 - CLN6 disease - - Disease - - - - - - 700477 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700477 - Adult CLN6 disease - - Clinical subtype - - - - - - - - 700467 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700467 - Late infantile CLN6 disease - - Clinical subtype - - - - - - - - 700472 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700472 - Juvenile CLN6 disease - - Clinical subtype - - - - - - - - - - 228366 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228366 - CLN7 disease - - Disease - - - - - - - - 228354 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228354 - CLN8 disease - - Disease - - - - - - 700484 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700484 - Late infantile CLN8 disease - - Clinical subtype - - - - - - - - 1947 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1947 - Northern epilepsy - - Clinical subtype - - - - - - - - - - 352709 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352709 - CLN13 disease - - Disease - - - - - - - - 228337 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228337 - CLN10 disease - - Disease - - - - - - 700487 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700487 - Congenital CLN10 disease - - Clinical subtype - - - - - - - - 700492 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700492 - Late infantile CLN10 disease - - Clinical subtype - - - - - - - - 700497 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700497 - Juvenile CLN10 disease - - Clinical subtype - - - - - - - - - - - - 43 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=43 - X-linked adrenoleukodystrophy - - Disease - - - - - - 139396 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139396 - X-linked cerebral adrenoleukodystrophy - - Clinical subtype - - - - - - - - 139399 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139399 - Adrenomyeloneuropathy - - Clinical subtype - - - - - - - - - - - - 276058 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276058 - Genetic neurodegenerative disease with dementia - - Category - - - - - - 54247 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=54247 - Posterior cortical atrophy - - Disease - - - - - - - - 385 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=385 - Neurodegeneration with brain iron accumulation - - Clinical group - - - - - - 3464 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3464 - Woodhouse-Sakati syndrome - - Disease - - - - - - - - 48818 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=48818 - Aceruloplasminemia - - Disease - - - - - - - - 157846 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157846 - Neuroferritinopathy - - Disease - - - - - - - - 157850 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157850 - Pantothenate kinase-associated neurodegeneration - - Disease - - - - - - 216866 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216866 - Classic pantothenate kinase-associated neurodegeneration - - Clinical subtype - - - - - - - - 216873 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216873 - Atypical pantothenate kinase-associated neurodegeneration - - Clinical subtype - - - - - - - - - - 289560 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289560 - Mitochondrial membrane protein-associated neurodegeneration - - Disease - - - - - - - - 306674 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306674 - Kufor-Rakeb syndrome - - Disease - - - - - - - - 329284 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329284 - Beta-propeller protein-associated neurodegeneration - - Disease - - - - - - - - 329303 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329303 - PLA2G6-associated neurodegeneration - - Clinical group - - - - - - 35069 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35069 - Infantile neuroaxonal dystrophy - - Disease - - - - - - - - 199351 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199351 - Adult-onset dystonia-parkinsonism - - Disease - - - - - - - - - - 329308 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329308 - Fatty acid hydroxylase-associated neurodegeneration - - Disease - - - - - - - - 397725 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397725 - COASY protein-associated neurodegeneration - - Disease - - - - - - - - 496756 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=496756 - Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome - - Disease - - - - - - - - - - 399 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399 - Huntington disease - - Disease - - - - - - - - 1020 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1020 - Early-onset autosomal dominant Alzheimer disease - - Disease - - - - - - - - 98538 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98538 - Ataxia with dementia - - Category - - - - - - 98539 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98539 - Early-onset ataxia with dementia - - Category - - - - - - 1172 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1172 - Autosomal recessive cerebellar ataxia - - Clinical group - - - - - - 88644 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88644 - Autosomal recessive ataxia, Beauce type - - Disease - - - - - - - - 98095 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98095 - Autosomal recessive congenital cerebellar ataxia - - Category - - - - - - 1170 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1170 - Autosomal recessive cerebelloparenchymal disorder type 3 - - Disease - - - - - - - - 1766 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1766 - Dysequilibrium syndrome - - Disease - - - - - - - - 83472 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83472 - CAMOS syndrome - - Malformation syndrome - - - - - - - - 94122 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94122 - Cerebellar ataxia, Cayman type - - Disease - - - - - - - - 140874 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140874 - Joubert syndrome and related disorders - - Category - - - - - - 2318 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2318 - Joubert syndrome with oculorenal defect - - Malformation syndrome - - - - - - - - 475 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=475 - Isolated Joubert syndrome - - Malformation syndrome - - - - - - - - 1454 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1454 - Joubert syndrome with hepatic defect - - Disease - - - - - - - - 2754 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2754 - Orofaciodigital syndrome type 6 - - Malformation syndrome - - - - - - - - 220493 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220493 - Joubert syndrome with ocular defect - - Malformation syndrome - - - - - - - - 220497 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220497 - Joubert syndrome with renal defect - - Malformation syndrome - - - - - - - - 397715 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397715 - Joubert syndrome with Jeune asphyxiating thoracic dystrophy - - Malformation syndrome - - - - - - - - - - 453521 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=453521 - Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency - - Disease - - - - - - - - 512260 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=512260 - Congenital cerebellar ataxia due to RNU12 mutation - - Disease - - - - - - - - - - 98096 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98096 - Autosomal recessive metabolic cerebellar ataxia - - Category - - - - - - 642965 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642965 - Autosomal recessive ataxia due to PEX2 deficiency - - Disease - - - - - - - - 96 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96 - Ataxia with vitamin E deficiency - - Disease - - - - - - - - 14 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=14 - Abetalipoproteinemia - - Disease - - - - - - - - 773 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=773 - Refsum disease - - Disease - - - - - - - - 909 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=909 - Cerebrotendinous xanthomatosis - - Disease - - - - - - - - 772 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=772 - Infantile Refsum disease - - Disease - - - - - - - - 94125 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94125 - Recessive mitochondrial ataxia syndrome - - Disease - - - - - - - - 247815 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247815 - Autosomal recessive ataxia due to PEX10 deficiency - - Disease - - - - - - - - 352641 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352641 - Autosomal recessive cerebellar ataxia with late-onset spasticity - - Disease - - - - - - - - 363429 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363429 - Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome - - Disease - - - - - - 324262 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324262 - Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency - - Clinical subtype - - - - - - - - 363432 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363432 - Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency - - Clinical subtype - - - - - - - - - - 95433 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95433 - Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome - - Disease - - - - - - - - 642954 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642954 - Autosomal recessive ataxia due to PEX16 deficiency - - Disease - - - - - - - - - - 98097 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98097 - Autosomal recessive cerebellar ataxia due to a DNA repair defect - - Category - - - - - - 100 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100 - Ataxia-telangiectasia - - Disease - - - - - - - - 1168 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1168 - Ataxia-oculomotor apraxia type 1 - - Disease - - - - - - - - 64753 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64753 - Spinocerebellar ataxia with axonal neuropathy type 2 - - Disease - - - - - - - - 94124 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94124 - Spinocerebellar ataxia with axonal neuropathy type 1 - - Disease - - - - - - - - 220295 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220295 - Xeroderma pigmentosum-Cockayne syndrome complex - - Disease - - - - - - - - 251347 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251347 - Ataxia-telangiectasia-like disorder - - Disease - - - - - - - - 910 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=910 - Xeroderma pigmentosum - - Disease - - - - - - - - 420741 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420741 - RIDDLE syndrome - - Malformation syndrome - - - - - - - - - - 98098 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98098 - Autosomal recessive degenerative and progressive cerebellar ataxia - - Category - - - - - - 95 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95 - Friedreich ataxia - - Disease - - - - - - - - 1177 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1177 - Early-onset cerebellar ataxia with retained tendon reflexes - - Disease - - - - - - - - 1186 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1186 - Infantile-onset spinocerebellar ataxia - - Disease - - - - - - - - 559 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=559 - Marinesco-Sjögren syndrome - - Disease - - - - - - - - 48431 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=48431 - Congenital cataracts-facial dysmorphism-neuropathy syndrome - - Malformation syndrome - - - - - - - - 88628 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88628 - Posterior column ataxia-retinitis pigmentosa syndrome - - Disease - - - - - - - - 694922 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=694922 - Childhood-onset stress-induced neurodegenerative ataxia-seizure syndrome - - Disease - - - - - - - - 496756 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=496756 - Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome - - Disease - - - - - - - - - - 98099 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98099 - Autosomal recessive syndromic cerebellar ataxia - - Category - - - - - - 459033 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=459033 - Ataxia-oculomotor apraxia type 4 - - Disease - - - - - - - - 95434 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95434 - Autosomal recessive cerebellar ataxia-movement disorder syndrome - - Disease - - - - - - - - 284271 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284271 - Autosomal recessive cerebellar ataxia-psychomotor delay syndrome - - Disease - - - - - - - - 2074 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2074 - Gemignani syndrome - - Malformation syndrome - - - - - - - - 504476 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=504476 - Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome - - Disease - - - - - - - - 466794 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466794 - Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome - - Disease - - - - - - - - - - 139485 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139485 - Autosomal recessive ataxia due to ubiquinone deficiency - - Disease - - - - - - - - 284289 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284289 - Adult-onset autosomal recessive cerebellar ataxia - - Disease - - - - - - - - 284324 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284324 - Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia - - Disease - - - - - - - - 284332 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284332 - Infantile-onset autosomal recessive nonprogressive cerebellar ataxia - - Disease - - - - - - - - 352403 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352403 - Spectrin-associated autosomal recessive cerebellar ataxia - - Disease - - - - - - - - 404481 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404481 - Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome - - Clinical group - - - - - - 284282 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284282 - Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency - - Disease - - - - - - - - 404493 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404493 - Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency - - Disease - - - - - - - - 404499 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404499 - Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency - - Disease - - - - - - - - - - 412057 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=412057 - Autosomal recessive cerebellar ataxia due to STUB1 deficiency - - Disease - - - - - - - - - - - - 98540 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98540 - Late-onset ataxia with dementia - - Category - - - - - - 99 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99 - Autosomal dominant cerebellar ataxia - - Category - - - - - - 94145 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94145 - Autosomal dominant cerebellar ataxia type I - - Clinical group - - - - - - 98772 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98772 - Spinocerebellar ataxia type 19/22 - - Disease - - - - - - - - 98773 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98773 - Spinocerebellar ataxia type 21 - - Disease - - - - - - - - 101108 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101108 - Spinocerebellar ataxia type 23 - - Disease - - - - - - - - 101109 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101109 - Spinocerebellar ataxia type 28 - - Disease - - - - - - - - 101110 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101110 - Spinocerebellar ataxia type 20 - - Disease - - - - - - - - 101111 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101111 - Spinocerebellar ataxia type 25 - - Disease - - - - - - - - 208513 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=208513 - Spinocerebellar ataxia type 29 - - Disease - - - - - - - - 276183 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276183 - Spinocerebellar ataxia type 32 - - Disease - - - - - - - - 276193 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276193 - Spinocerebellar ataxia type 35 - - Disease - - - - - - - - 276198 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276198 - Spinocerebellar ataxia type 36 - - Disease - - - - - - - - 314404 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314404 - Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome - - Disease - - - - - - - - 314647 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314647 - Non-progressive cerebellar ataxia with intellectual disability - - Disease - - - - - - - - 363710 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363710 - Spinocerebellar ataxia type 37 - - Disease - - - - - - - - 423275 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423275 - Spinocerebellar ataxia type 40 - - Disease - - - - - - - - 1955 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1955 - Spinocerebellar ataxia type 34 - - Disease - - - - - - - - 1171 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1171 - Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome - - Disease - - - - - - - - 98755 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98755 - Spinocerebellar ataxia type 1 - - Disease - - - - - - - - 98756 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98756 - Spinocerebellar ataxia type 2 - - Disease - - - - - - - - 98757 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98757 - Spinocerebellar ataxia type 3 - - Disease - - - - - - 276238 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276238 - Machado-Joseph disease type 1 - - Clinical subtype - - - - - - - - 276241 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276241 - Machado-Joseph disease type 2 - - Clinical subtype - - - - - - - - 276244 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276244 - Machado-Joseph disease type 3 - - Clinical subtype - - - - - - - - - - 98759 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98759 - Spinocerebellar ataxia type 17 - - Disease - - - - - - - - 98760 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98760 - Spinocerebellar ataxia type 8 - - Disease - - - - - - - - 98762 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98762 - Spinocerebellar ataxia type 12 - - Disease - - - - - - - - 98763 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98763 - Spinocerebellar ataxia type 14 - - Disease - - - - - - - - 98764 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98764 - Spinocerebellar ataxia type 27A - - Disease - - - - - - - - 98765 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98765 - Spinocerebellar ataxia type 4 - - Disease - - - - - - - - 98768 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98768 - Spinocerebellar ataxia type 13 - - Disease - - - - - - - - 98769 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98769 - Spinocerebellar ataxia type 15/16 - - Disease - - - - - - - - 98771 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98771 - Spinocerebellar ataxia type 18 - - Disease - - - - - - - - 497764 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=497764 - Spinocerebellar ataxia type 43 - - Disease - - - - - - - - 589515 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589515 - PUM1-associated developmental disability-ataxia-seizure syndrome - - Disease - - - - - - - - 589522 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589522 - Spinocerebellar ataxia type 46 - - Disease - - - - - - - - 631103 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=631103 - Spinocerebellar ataxia type 48 - - Disease - - - - - - - - 675216 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=675216 - Spinocerebellar ataxia type 27B - - Disease - - - - - - - - 631106 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=631106 - Spinocerebellar ataxia type 49 - - Disease - - - - - - - - - - 94148 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94148 - Autosomal dominant cerebellar ataxia type III - - Clinical group - - - - - - 589527 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589527 - Spinocerebellar ataxia type 45 - - Disease - - - - - - - - 631095 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=631095 - Spinocerebellar ataxia type 44 - - Disease - - - - - - - - 98758 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98758 - Spinocerebellar ataxia type 6 - - Disease - - - - - - - - 98766 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98766 - Spinocerebellar ataxia type 5 - - Disease - - - - - - - - 98767 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98767 - Spinocerebellar ataxia type 11 - - Disease - - - - - - - - 101112 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101112 - Spinocerebellar ataxia type 26 - - Disease - - - - - - - - 211017 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=211017 - Spinocerebellar ataxia type 30 - - Disease - - - - - - - - 217012 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217012 - Spinocerebellar ataxia type 31 - - Disease - - - - - - - - 423296 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423296 - Spinocerebellar ataxia type 38 - - Disease - - - - - - - - 458798 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=458798 - Spinocerebellar ataxia type 41 - - Disease - - - - - - - - 458803 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=458803 - Spinocerebellar ataxia type 42 - - Disease - - - - - - - - - - 94149 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94149 - Autosomal dominant cerebellar ataxia type IV - - Clinical group - - - - - - 101 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101 - Dentatorubral pallidoluysian atrophy - - Disease - - - - - - - - 98761 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98761 - Spinocerebellar ataxia type 10 - - Disease - - - - - - - - - - 208508 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=208508 - Autosomal dominant cerebellar ataxia type II - - Clinical group - - - - - - 94147 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94147 - Spinocerebellar ataxia type 7 - - Disease - - - - - - - - - - 642747 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642747 - PUM1-related cerebellar ataxia - - Disease - - - - - - - - - - - - - - 248111 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=248111 - Juvenile Huntington disease - - Disease - - - - - - - - 276061 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276061 - Genetic frontotemporal degeneration with dementia - - Category - - - - - - 52430 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52430 - Inclusion body myopathy with Paget disease of bone and frontotemporal dementia - - Disease - - - - - - - - 683 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=683 - Progressive supranuclear palsy - - Disease - - - - - - 99750 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99750 - Atypical progressive supranuclear palsy syndrome - - Clinical subtype - - - - - - 240085 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=240085 - Progressive supranuclear palsy-predominant parkinsonism syndrome - - Clinical subtype - - - - - - - - 240094 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=240094 - Progressive supranuclear palsy-pure akinesia with gait freezing syndrome - - Clinical subtype - - - - - - - - 240103 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=240103 - Progressive supranuclear palsy-corticobasal syndrome - - Clinical subtype - - - - - - - - 240112 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=240112 - Progressive supranuclear palsy-progressive non-fluent aphasia syndrome - - Clinical subtype - - - - - - - - - - 240071 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=240071 - Classic progressive supranuclear palsy syndrome - - Clinical subtype - - - - - - - - - - 282 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=282 - Frontotemporal dementia - - Clinical group - - - - - - 100069 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100069 - Semantic dementia - - Disease - - - - - - - - 100070 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100070 - Progressive non-fluent aphasia - - Disease - - - - - - - - 275864 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275864 - Behavioral variant of frontotemporal dementia - - Disease - - - - - - - - - - 275872 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275872 - Frontotemporal dementia with motor neuron disease - - Disease - - - - - - - - - - 401901 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401901 - Huntington disease-like syndrome due to C9ORF72 expansions - - Disease - - - - - - - - 412066 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=412066 - PRKAR1B-related neurodegenerative dementia with intermediate filaments - - Disease - - - - - - - - 439254 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439254 - ITM2B amyloidosis - - Disease - - - - - - 97345 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97345 - ABri amyloidosis - - Clinical subtype - - - - - - - - 97346 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97346 - ADan amyloidosis - - Clinical subtype - - - - - - - - - - 411602 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411602 - Hereditary late-onset Parkinson disease - - Disease - - - - - - - - 2770 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2770 - Nasu-Hakola disease - - Malformation syndrome - - - - - - - - 2289 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2289 - Neuronal intranuclear inclusion disease - - Disease - - - - - - - - 456318 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=456318 - Hereditary sensory neuropathy-deafness-dementia syndrome - - Disease - - - - - - - - 280400 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280400 - Inherited human prion disease - - Category - - - - - - 466 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466 - Fatal familial insomnia - - Disease - - - - - - - - 157941 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157941 - Huntington disease-like 1 - - Disease - - - - - - - - 282166 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=282166 - Inherited Creutzfeldt-Jakob disease - - Disease - - - - - - - - 356 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=356 - Gerstmann-Straussler-Scheinker syndrome - - Disease - - - - - - - - 280397 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280397 - Familial Alzheimer-like prion disease - - Disease - - - - - - - - 397606 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397606 - PrP systemic amyloidosis - - Disease - - - - - - - - - - 313808 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313808 - Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia - - Disease - - - - - - - - 263440 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263440 - Neuroacanthocytosis - - Clinical group - - - - - - 2388 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2388 - Choreoacanthocytosis - - Disease - - - - - - - - 59306 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=59306 - McLeod neuroacanthocytosis syndrome - - Disease - - - - - - - - 98934 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98934 - Huntington disease-like 2 - - Disease - - - - - - - - 157850 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157850 - Pantothenate kinase-associated neurodegeneration - - Disease - - - - - - 216866 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216866 - Classic pantothenate kinase-associated neurodegeneration - - Clinical subtype - - - - - - - - 216873 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216873 - Atypical pantothenate kinase-associated neurodegeneration - - Clinical subtype - - - - - - - - - - - - - - 98549 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98549 - Rare cerebrovascular dementia - - Category - - - - - - 85458 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85458 - Cerebral Amyloid Angiopathy - - Disease - - - - - - 100006 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100006 - ABeta amyloidosis, Dutch type - - Clinical subtype - - - - - - - - 100008 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100008 - ACys amyloidosis - - Clinical subtype - - - - - - - - 324703 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324703 - ABetaL34V amyloidosis - - Clinical subtype - - - - - - - - 324708 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324708 - ABeta amyloidosis, Iowa type - - Clinical subtype - - - - - - - - 324713 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324713 - ABeta amyloidosis, Italian type - - Clinical subtype - - - - - - - - 324718 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324718 - ABetaA21G amyloidosis - - Clinical subtype - - - - - - - - 324723 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324723 - ABeta amyloidosis, Arctic type - - Clinical subtype - - - - - - - - - - 136 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=136 - Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy - - Disease - - - - - - - - 575553 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=575553 - Cathepsin A-related arteriopathy-strokes-leukoencephalopathy - - Disease - - - - - - - - - - - - 164736 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=164736 - Familial advanced sleep-phase syndrome - - Disease - - - - - - - - 168778 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168778 - Rare pervasive developmental disorder - - Category - - - - - - 778 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=778 - Rett syndrome - - Disease - - - - - - - - 3095 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3095 - Atypical Rett syndrome - - Disease - - - - - - - - 168782 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168782 - Childhood disintegrative disorder - - Disease - - - - - - - - 180772 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180772 - Rare disease with autism - - Category - - - - - - 65283 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65283 - Timothy syndrome - - Malformation syndrome - - - - - - 595098 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=595098 - Timothy syndrome type 1 - - Clinical subtype - - - - - - - - 595105 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=595105 - Timothy syndrome type 2 - - Clinical subtype - - - - - - - - 595109 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=595109 - Atypical Timothy syndrome - - Clinical subtype - - - - - - - - - - 99704 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99704 - Early-onset obesity-hyperphagia-severe developmental delay syndrome - - Disease - - - - - - - - 908 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=908 - Fragile X syndrome - - Malformation syndrome - - - - - - - - 819 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=819 - Smith-Magenis syndrome - - Malformation syndrome - - - - - - - - 805 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=805 - Tuberous sclerosis complex - - Disease - - - - - - - - 46 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=46 - Adenylosuccinate lyase deficiency - - Disease - - - - - - - - 3306 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3306 - Inverted duplicated chromosome 15 syndrome - - Malformation syndrome - - - - - - - - 210548 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210548 - Macrocephaly-intellectual disability-autism syndrome - - Disease - - - - - - - - 293948 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293948 - 1p21.3 microdeletion syndrome - - Malformation syndrome - - - - - - - - 314389 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314389 - Xq12-q13.3 duplication syndrome - - Malformation syndrome - - - - - - - - 329195 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329195 - Developmental delay with autism spectrum disorder and gait instability - - Disease - - - - - - - - 352490 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352490 - Autism spectrum disorder due to AUTS2 deficiency - - Disease - - - - - - - - 370943 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370943 - Autism spectrum disorder-epilepsy-arthrogryposis syndrome - - Disease - - - - - - - - 500545 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500545 - Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract - - Disease - - - - - - - - 589547 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589547 - GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder - - Disease - - - - - - - - - - 199627 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199627 - Atypical autism - - Disease - - - - - - - - 600663 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=600663 - NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance - - Malformation syndrome - - - - - - - - 561854 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=561854 - FOXG1 syndrome - - Disease - - - - - - 598164 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=598164 - FOXG1 syndrome due to intragenic alteration - - Clinical subtype - - - - - - - - 261144 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261144 - FOXG1 syndrome due to 14q12 microdeletion - - Clinical subtype - - - - - - - - - - 505652 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=505652 - CDKL5-deficiency disorder - - Disease - - - - - - - - - - 178506 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178506 - Brain calcification, Rajab type - - Disease - - - - - - - - 183497 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183497 - Genetic neuromuscular disease - - Category - - - - - - 98495 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98495 - Genetic neuromuscular junction disease - - Category - - - - - - 590 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=590 - Congenital myasthenic syndrome - - Disease - - - - - - 98913 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98913 - Postsynaptic congenital myasthenic syndromes - - Etiological subtype - - - - - - - - 98914 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98914 - Presynaptic congenital myasthenic syndromes - - Etiological subtype - - - - - - - - 98915 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98915 - Synaptic congenital myasthenic syndromes - - Etiological subtype - - - - - - - - 353327 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353327 - Congenital myasthenic syndromes with glycosylation defect - - Etiological subtype - - - - - - - - - - - - 98505 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98505 - Genetic motor neuron disease - - Category - - - - - - 53739 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53739 - Distal hereditary motor neuropathy - - Clinical group - - - - - - 140465 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140465 - Autosomal dominant distal hereditary motor neuropathy - - Category - - - - - - 1216 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1216 - Autosomal dominant congenital benign spinal muscular atrophy - - Disease - - - - - - - - 100998 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100998 - Autosomal dominant spastic paraplegia type 17 - - Disease - - - - - - - - 139518 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139518 - Distal hereditary motor neuropathy type 1 - - Disease - - - - - - - - 139525 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139525 - Distal hereditary motor neuropathy type 2 - - Disease - - - - - - - - 139536 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139536 - Distal hereditary motor neuropathy type 5 - - Disease - - - - - - - - 139589 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139589 - Distal hereditary motor neuropathy type 7 - - Disease - - - - - - - - 397744 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397744 - Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome - - Disease - - - - - - - - 476093 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=476093 - Autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome - - Disease - - - - - - - - - - 140468 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140468 - Autosomal recessive distal hereditary motor neuropathy - - Category - - - - - - 496756 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=496756 - Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome - - Disease - - - - - - - - 98920 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98920 - Spinal muscular atrophy with respiratory distress type 1 - - Disease - - - - - - - - 139547 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139547 - Distal spinal muscular atrophy type 3 - - Disease - - - - - - - - 139552 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139552 - Distal hereditary motor neuropathy, Jerash type - - Disease - - - - - - - - 314485 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314485 - Young adult-onset distal hereditary motor neuropathy - - Disease - - - - - - - - 658778 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=658778 - COQ7-related distal hereditary motor neuropathy - - Disease - - - - - - - - - - 404538 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404538 - X-linked distal hereditary motor neuropathy - - Category - - - - - - 1145 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1145 - Infantile-onset X-linked spinal muscular atrophy - - Disease - - - - - - - - 139557 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139557 - X-linked distal spinal muscular atrophy type 3 - - Disease - - - - - - - - 404521 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404521 - Spinal muscular atrophy with respiratory distress type 2 - - Disease - - - - - - - - - - - - 85146 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85146 - Neurogenic scapuloperoneal syndrome, Kaeser type - - Disease - - - - - - - - 137867 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137867 - Madras motor neuron disease - - Disease - - - - - - - - 206701 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206701 - Bulbospinal muscular atrophy - - Category - - - - - - 206704 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206704 - Bulbospinal muscular atrophy of childhood - - Clinical group - - - - - - 97229 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97229 - Riboflavin transporter deficiency - - Malformation syndrome - - - - - - 572543 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572543 - RFVT2-related riboflavin transporter deficiency - - Clinical subtype - - - - - - - - 572550 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572550 - RFVT3-related riboflavin transporter deficiency - - Clinical subtype - - - - - - - - - - - - 206707 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206707 - Bulbospinal muscular atrophy of adult - - Clinical group - - - - - - 481 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=481 - Kennedy disease - - Disease - - - - - - - - - - 206710 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206710 - Generalized bulbospinal muscular atrophy - - Clinical group - - - - - - 1217 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1217 - Spinal atrophy-ophthalmoplegia-pyramidal syndrome - - Disease - - - - - - - - 206580 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206580 - Autosomal recessive lower motor neuron disease with childhood onset - - Disease - - - - - - - - - - 207012 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=207012 - Spinal muscular atrophy associated with central nervous system anomaly - - Clinical group - - - - - - 1496 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1496 - Corpus callosum agenesis-neuronopathy syndrome - - Disease - - - - - - - - 2524 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2524 - Pontocerebellar hypoplasia type 2 - - Malformation syndrome - - - - - - - - 2254 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2254 - Pontocerebellar hypoplasia type 1 - - Malformation syndrome - - - - - - - - 73245 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73245 - Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome - - Malformation syndrome - - - - - - - - - - - - 211037 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=211037 - Autosomal dominant proximal spinal muscular atrophy - - Clinical group - - - - - - 209335 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209335 - Autosomal dominant adult-onset proximal spinal muscular atrophy - - Disease - - - - - - - - 276435 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276435 - Lower motor neuron syndrome with late-adult onset - - Disease - - - - - - - - 363447 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363447 - Autosomal dominant childhood-onset proximal spinal muscular atrophy - - Disease - - - - - - 209341 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209341 - DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy - - Etiological subtype - - - - - - - - 363454 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363454 - BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy - - Etiological subtype - - - - - - - - - - - - 247604 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247604 - Juvenile primary lateral sclerosis - - Disease - - - - - - - - 293168 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293168 - Infantile-onset ascending hereditary spastic paralysis - - Disease - - - - - - - - 300605 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300605 - Juvenile amyotrophic lateral sclerosis - - Disease - - - - - - - - 357043 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357043 - Amyotrophic lateral sclerosis type 4 - - Disease - - - - - - - - 431255 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=431255 - Scapuloperoneal spinal muscular atrophy - - Disease - - - - - - - - 70 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70 - Proximal spinal muscular atrophy - - Disease - - - - - - 83330 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83330 - Proximal spinal muscular atrophy type 1 - - Clinical subtype - - - - - - - - 83418 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83418 - Proximal spinal muscular atrophy type 2 - - Clinical subtype - - - - - - - - 83419 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83419 - Proximal spinal muscular atrophy type 3 - - Clinical subtype - - - - - - - - 83420 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83420 - Proximal spinal muscular atrophy type 4 - - Clinical subtype - - - - - - - - - - 486811 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=486811 - Prenatal-onset spinal muscular atrophy with congenital bone fractures - - Disease - - - - - - - - 2590 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2590 - Spinal muscular atrophy-progressive myoclonic epilepsy syndrome - - Disease - - - - - - - - - - 206634 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206634 - Genetic skeletal muscle disease - - Category - - - - - - 2674 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2674 - Cyprus facial-neuromusculoskeletal syndrome - - Malformation syndrome - - - - - - - - 3292 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3292 - Tel Hashomer camptodactyly syndrome - - Malformation syndrome - - - - - - - - 3454 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3454 - Wieacker-Wolff syndrome - - Malformation syndrome - - - - - - - - 599 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=599 - Distal myopathy - - Category - - - - - - 700143 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700143 - X-linked distal myopathy - - Category - - - - - - 700163 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700163 - SMPX-related distal myopathy - - Disease - - - - - - - - - - 206650 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206650 - Autosomal dominant distal myopathy - - Category - - - - - - 98897 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98897 - Oculopharyngodistal myopathy - - Disease - - - - - - - - 603 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=603 - Distal myopathy, Welander type - - Disease - - - - - - - - 609 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=609 - Tibial muscular dystrophy - - Disease - - - - - - - - 600 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=600 - Vocal cord and pharyngeal distal myopathy - - Disease - - - - - - - - 59135 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=59135 - Laing distal myopathy - - Disease - - - - - - - - 63273 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=63273 - Distal myopathy with posterior leg and anterior hand involvement - - Disease - - - - - - - - 98909 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98909 - Desminopathy - - Disease - - - - - - - - 98911 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98911 - Distal myotilinopathy - - Disease - - - - - - - - 98912 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98912 - Late-onset distal myopathy, Markesbery-Griggs type - - Disease - - - - - - - - 329478 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329478 - Adult-onset distal myopathy due to VCP mutation - - Disease - - - - - - - - 397744 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397744 - Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome - - Disease - - - - - - - - 399058 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399058 - Alpha-B crystallin-related late-onset myopathy - - Disease - - - - - - - - 399081 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399081 - KLHL9-related early-onset distal myopathy - - Disease - - - - - - - - 399086 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399086 - HNRNPA1-related adult-onset distal myopathy - - Disease - - - - - - - - 696063 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=696063 - PLIN4-related distal myopathy - - Disease - - - - - - - - 700154 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700154 - TARDBP-related predominantly upper-limb distal myopathy - - Disease - - - - - - - - 700170 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700170 - Asymetric thumb-handgrip weakness-distal myopathy - - Disease - - - - - - - - 700188 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700188 - Calf-predominant weakness-gastrocnemius medialis atrophy-distal myopathy - - Disease - - - - - - - - 488650 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488650 - Distal myopathy, Tateyama type - - Disease - - - - - - - - - - 206653 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206653 - Autosomal recessive distal myopathy - - Category - - - - - - 602 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=602 - GNE myopathy - - Disease - - - - - - - - 45448 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=45448 - Miyoshi myopathy - - Disease - - - - - - - - 178400 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178400 - Distal myopathy with anterior tibial onset - - Disease - - - - - - - - 399096 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399096 - Distal anoctaminopathy - - Disease - - - - - - - - 399103 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399103 - Distal nebulin myopathy - - Disease - - - - - - - - 98897 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98897 - Oculopharyngodistal myopathy - - Disease - - - - - - - - 689021 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=689021 - Asymptomatic hyperCKemia-myalgia-rhabdomyolysis syndrome - - Disease - - - - - - - - 482601 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=482601 - Adenylosuccinate synthetase-like 1-related distal myopathy - - Disease - - - - - - - - - - - - 88635 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88635 - Vacuolar myopathy with sarcoplasmic reticulum protein aggregates - - Disease - - - - - - - - 98473 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98473 - Muscular dystrophy - - Category - - - - - - 97242 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97242 - Congenital muscular dystrophy - - Category - - - - - - 258 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=258 - Laminin subunit alpha 2-related congenital muscular dystrophy - - Malformation syndrome - - - - - - - - 1875 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1875 - Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome - - Disease - - - - - - - - 34520 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=34520 - Congenital muscular dystrophy with integrin alpha-7 deficiency - - Disease - - - - - - - - 97244 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97244 - Rigid spine syndrome - - Disease - - - - - - - - 98893 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98893 - Congenital muscular dystrophy type 1B - - Disease - - - - - - - - 157973 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157973 - Congenital muscular dystrophy due to LMNA mutation - - Disease - - - - - - - - 199329 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199329 - Congenital myopathy, Paradas type - - Disease - - - - - - - - 280671 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280671 - Megaconial congenital muscular dystrophy - - Disease - - - - - - - - 319332 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319332 - Autosomal recessive myogenic arthrogryposis multiplex congenita - - Disease - - - - - - - - 370953 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370953 - Congenital muscular dystrophy due to dystroglycanopathy - - Category - - - - - - 263494 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263494 - DPM3-CDG - - Disease - - - - - - - - 329178 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329178 - Congenital muscular dystrophy with intellectual disability and severe epilepsy - - Disease - - - - - - - - 352687 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352687 - Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies - - Clinical group - - - - - - 272 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=272 - Congenital muscular dystrophy, Fukuyama type - - Malformation syndrome - - - - - - - - 899 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=899 - Walker-Warburg syndrome - - Disease - - - - - - - - 588 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=588 - Muscle-eye-brain disease - - Malformation syndrome - - - - - - - - 370997 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370997 - Muscle-eye-brain disease with bilateral multicystic leucodystrophy - - Disease - - - - - - - - - - 370959 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370959 - Congenital muscular dystrophy with cerebellar involvement - - Disease - - - - - - - - 370968 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370968 - Congenital muscular dystrophy with intellectual disability - - Disease - - - - - - - - 370980 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370980 - Congenital muscular dystrophy without intellectual disability - - Disease - - - - - - - - - - 371007 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=371007 - Congenital muscular dystrophy with hyperlaxity - - Disease - - - - - - - - 486815 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=486815 - Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome - - Disease - - - - - - - - 646098 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=646098 - Collagen VI-related congenital muscular dystrophy - - Clinical group - - - - - - 610 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=610 - Bethlem muscular dystrophy - - Disease - - - - - - - - 75840 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75840 - Ullrich congenital muscular dystrophy - - Disease - - - - - - - - 646113 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=646113 - Intermediate collagen VI-related muscular dystrophy - - Disease - - - - - - - - - - 662184 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662184 - Congenital muscular dystrophy-cataract-intellectual disability syndrome - - Disease - - - - - - - - 536516 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=536516 - Myopathic Ehlers-Danlos syndrome - - Disease - - - - - - - - - - 206644 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206644 - Progressive muscular dystrophy - - Category - - - - - - 257 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=257 - Epidermolysis bullosa simplex with muscular dystrophy - - Disease - - - - - - - - 262 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262 - Duchenne and Becker muscular dystrophy - - Clinical group - - - - - - 98895 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98895 - Becker muscular dystrophy - - Disease - - - - - - - - 98896 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98896 - Duchenne muscular dystrophy - - Disease - - - - - - - - 206546 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206546 - Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers - - Disease - - - - - - - - - - 261 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261 - Emery-Dreifuss muscular dystrophy - - Disease - - - - - - 98853 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98853 - Autosomal dominant Emery-Dreifuss muscular dystrophy - - Etiological subtype - - - - - - - - 98855 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98855 - Autosomal recessive Emery-Dreifuss muscular dystrophy - - Etiological subtype - - - - - - - - 98863 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98863 - X-linked Emery-Dreifuss muscular dystrophy - - Etiological subtype - - - - - - - - - - 269 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269 - Facioscapulohumeral dystrophy - - Disease - - - - - - - - 800 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=800 - Schwartz-Jampel syndrome - - Disease - - - - - - - - 610 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=610 - Bethlem muscular dystrophy - - Disease - - - - - - - - 270 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=270 - Oculopharyngeal muscular dystrophy - - Disease - - - - - - - - 263 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263 - Limb-girdle muscular dystrophy - - Clinical group - - - - - - 102014 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=102014 - Autosomal dominant limb-girdle muscular dystrophy - - Category - - - - - - 565909 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=565909 - Calpain-3-related limb-girdle muscular dystrophy D4 - - Disease - - - - - - - - 34516 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=34516 - DNAJB6-related limb-girdle muscular dystrophy D1 - - Disease - - - - - - - - 55595 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=55595 - TNP03-related limb-girdle muscular dystrophy D2 - - Disease - - - - - - - - 55596 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=55596 - HNRNPDL-related limb-girdle muscular dystrophy D3 - - Disease - - - - - - - - - - 102015 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=102015 - Autosomal recessive limb-girdle muscular dystrophy - - Category - - - - - - 565837 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=565837 - Laminin subunit alpha 2-related limb-girdle muscular dystrophy R23 - - Disease - - - - - - - - 480682 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480682 - POGLUT1-related limb-girdle muscular dystrophy R21 - - Disease - - - - - - - - 62 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=62 - Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3 - - Disease - - - - - - - - 267 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=267 - Calpain-3-related limb-girdle muscular dystrophy R1 - - Disease - - - - - - - - 1878 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1878 - TRIM32-related limb-girdle muscular dystrophy R8 - - Disease - - - - - - - - 119 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=119 - Beta-sarcoglycan-related limb-girdle muscular dystrophy R4 - - Disease - - - - - - - - 353 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353 - Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 - - Disease - - - - - - - - 219 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=219 - Delta-sarcoglycan-related limb-girdle muscular dystrophy R6 - - Disease - - - - - - - - 268 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268 - Dysferlin-related limb-girdle muscular dystrophy R2 - - Disease - - - - - - - - 34514 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=34514 - Telethonin-related limb-girdle muscular dystrophy R7 - - Disease - - - - - - - - 34515 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=34515 - FKRP-related limb-girdle muscular dystrophy R9 - - Disease - - - - - - - - 86812 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86812 - POMT1-related limb-girdle muscular dystrophy R11 - - Disease - - - - - - - - 140922 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140922 - Titin-related limb-girdle muscular dystrophy R10 - - Disease - - - - - - - - 206549 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206549 - Anoctamin-5-related limb-girdle muscular dystrophy R12 - - Disease - - - - - - - - 206554 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206554 - Fukutin-related limb-girdle muscular dystrophy R13 - - Disease - - - - - - - - 206559 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206559 - POMT2-related limb-girdle muscular dystrophy R14 - - Disease - - - - - - - - 206564 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206564 - POMGNT1-related limb-girdle muscular dystrophy R15 - - Disease - - - - - - - - 254361 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254361 - Plectin-related limb-girdle muscular dystrophy R17 - - Disease - - - - - - - - 280333 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280333 - Alpha-dystroglycan-related limb-girdle muscular dystrophy R16 - - Disease - - - - - - - - 352479 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352479 - ISPD-related limb-girdle muscular dystrophy R20 - - Disease - - - - - - - - 363623 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363623 - GMPPB-related limb-girdle muscular dystrophy R19 - - Disease - - - - - - - - 369840 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369840 - TRAPPC11-related limb-girdle muscular dystrophy R18 - - Disease - - - - - - - - 424261 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424261 - TOR1AIP1-related limb-girdle muscular dystrophy - - Disease - - - - - - - - 445110 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=445110 - Limb-girdle muscular dystrophy due to POMK deficiency - - Disease - - - - - - - - 476084 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=476084 - BVES-related limb-girdle muscular dystrophy - - Disease - - - - - - - - 653725 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=653725 - Autosomal recessive limb-girdle muscular dystrophy, type 28 - - Disease - - - - - - - - 565899 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=565899 - POMGNT2-related limb-girdle muscular dystrophy R24 - - Disease - - - - - - - - - - - - 25980 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=25980 - X-linked myopathy with excessive autophagy - - Disease - - - - - - - - 45358 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=45358 - Congenital fibrosis of extraocular muscles - - Disease - - - - - - - - 98897 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98897 - Oculopharyngodistal myopathy - - Disease - - - - - - - - 178461 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178461 - X-linked myopathy with postural muscle atrophy - - Disease - - - - - - - - 178464 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178464 - Hereditary myopathy with early respiratory failure - - Disease - - - - - - - - 206647 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206647 - Myotonic dystrophy - - Clinical group - - - - - - 273 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=273 - Steinert myotonic dystrophy - - Disease - - - - - - 589824 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589824 - Childhood-onset Steinert myotonic dystrophy - - Clinical subtype - - - - - - - - 589827 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589827 - Juvenile-onset Steinert myotonic dystrophy - - Clinical subtype - - - - - - - - 589830 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589830 - Adult-onset Steinert myotonic dystrophy - - Clinical subtype - - - - - - - - 589833 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589833 - Late-onset Steinert myotonic dystrophy - - Clinical subtype - - - - - - - - 589821 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589821 - Congenital-onset Steinert myotonic dystrophy - - Clinical subtype - - - - - - - - - - 606 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=606 - Proximal myotonic myopathy - - Disease - - - - - - - - - - 431263 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=431263 - Late-onset scapuloperoneal muscular dystrophy with hyaline bodies - - Clinical group - - - - - - 431272 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=431272 - X-linked scapuloperoneal muscular dystrophy - - Disease - - - - - - - - - - 466921 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466921 - Childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome - - Disease - - - - - - - - 447977 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447977 - Progressive scapulohumeroperoneal distal myopathy - - Disease - - - - - - - - - - - - 206656 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206656 - Non-dystrophic myopathy - - Category - - - - - - 521305 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521305 - Proximal myopathy with focal depletion of mitochondria - - Disease - - - - - - - - 593 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=593 - Myofibrillar myopathy - - Category - - - - - - 98909 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98909 - Desminopathy - - Disease - - - - - - - - 98910 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98910 - Alpha-crystallinopathy - - Clinical group - - - - - - 280553 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280553 - Fatal infantile hypertonic myofibrillar myopathy - - Disease - - - - - - - - 399058 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399058 - Alpha-B crystallin-related late-onset myopathy - - Disease - - - - - - - - - - 209224 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209224 - Myotilinopathy - - Category - - - - - - 98911 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98911 - Distal myotilinopathy - - Disease - - - - - - - - 268129 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268129 - Spheroid body myopathy - - Disease - - - - - - - - - - 98912 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98912 - Late-onset distal myopathy, Markesbery-Griggs type - - Disease - - - - - - - - 171445 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171445 - Muscle filaminopathy - - Disease - - - - - - - - 199340 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199340 - Muscular dystrophy, Selcen type - - Disease - - - - - - - - 476403 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=476403 - Hypercontractile muscle stiffness syndrome - - Clinical group - - - - - - 476406 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=476406 - Congenital generalized hypercontractile muscle stiffness syndrome - - Disease - - - - - - - - 280553 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280553 - Fatal infantile hypertonic myofibrillar myopathy - - Disease - - - - - - - - - - 700170 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700170 - Asymetric thumb-handgrip weakness-distal myopathy - - Disease - - - - - - - - 496686 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=496686 - Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome - - Disease - - - - - - - - 476093 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=476093 - Autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome - - Disease - - - - - - - - - - 972 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=972 - Hereditary continuous muscle fiber activity - - Disease - - - - - - - - 53347 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53347 - Brody myopathy - - Disease - - - - - - - - 97238 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97238 - Rippling muscle disease - - Disease - - - - - - - - 97245 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97245 - Congenital myopathy - - Category - - - - - - 3010 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3010 - Qazi-Markouizos syndrome - - Disease - - - - - - - - 1358 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1358 - Carey-Fineman-Ziter syndrome - - Malformation syndrome - - - - - - - - 2020 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2020 - Congenital fiber-type disproportion myopathy - - Disease - - - - - - - - 2593 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2593 - Tubular aggregate myopathy - - Disease - - - - - - - - 3068 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3068 - Intellectual disability-myopathy-short stature-endocrine defect syndrome - - Disease - - - - - - - - 595 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=595 - Centronuclear myopathy - - Clinical group - - - - - - 596 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=596 - X-linked centronuclear myopathy - - Disease - - - - - - - - 169186 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169186 - Autosomal recessive centronuclear myopathy - - Disease - - - - - - - - 169189 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169189 - Autosomal dominant centronuclear myopathy - - Disease - - - - - - - - 456328 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=456328 - X-linked myotubular myopathy-abnormal genitalia syndrome - - Disease - - - - - - - - 604680 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=604680 - Symptomatic form of X-linked centronuclear myopathy in female carriers - - Disease - - - - - - - - 319160 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319160 - Congenital myopathy with internal nuclei and atypical cores - - Disease - - - - - - - - - - 53698 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53698 - Myosin storage myopathy - - Disease - - - - - - 636965 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=636965 - Autosomal dominant myosin storage myopathy - - Clinical subtype - - - - - - - - 636970 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=636970 - Autosomal recessive myosin storage myopathy - - Clinical subtype - - - - - - - - - - 97232 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97232 - Fingerprint body myopathy - - Disease - - - - - - - - 97239 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97239 - Reducing body myopathy - - Disease - - - - - - - - 97240 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97240 - Zebra body myopathy - - Disease - - - - - - - - 98904 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98904 - Congenital myopathy with excess of thin filaments - - Disease - - - - - - - - 99741 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99741 - King-Denborough syndrome - - Malformation syndrome - - - - - - - - 168572 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168572 - Native American myopathy - - Malformation syndrome - - - - - - - - 171881 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171881 - Cap myopathy - - Disease - - - - - - - - 171886 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171886 - Cylindrical spirals myopathy - - Disease - - - - - - - - 171889 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171889 - Myopathy with hexagonally cross-linked tubular arrays - - Disease - - - - - - - - 172976 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=172976 - Congenital myopathy with cores - - Clinical group - - - - - - 597 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=597 - Central core disease - - Disease - - - - - - - - 598 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=598 - Multiminicore myopathy - - Disease - - - - - - 98905 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98905 - Congenital multicore myopathy with external ophthalmoplegia - - Clinical subtype - - - - - - - - 178145 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178145 - Moderate multiminicore disease with hand involvement - - Clinical subtype - - - - - - - - 178148 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178148 - Antenatal multiminicore disease with arthrogryposis multiplex congenita - - Clinical subtype - - - - - - - - 324604 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324604 - Classic multiminicore myopathy - - Clinical subtype - - - - - - - - - - 319160 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319160 - Congenital myopathy with internal nuclei and atypical cores - - Disease - - - - - - - - - - 210163 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210163 - Congenital lethal myopathy, Compton-North type - - Disease - - - - - - - - 324581 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324581 - Benign Samaritan congenital myopathy - - Disease - - - - - - - - 363409 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363409 - Fetal akinesia-cerebral and retinal hemorrhage syndrome - - Disease - - - - - - - - 424107 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424107 - Congenital myopathy with myasthenic-like onset - - Disease - - - - - - - - 439212 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439212 - Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome - - Disease - - - - - - - - 544602 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=544602 - Congenital myopathy with reduced type 2 muscle fibers - - Disease - - - - - - - - 447974 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447974 - Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome - - Malformation syndrome - - - - - - - - 467176 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=467176 - Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome - - Disease - - - - - - - - 457074 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457074 - Congenital nemaline myopathy - - Clinical group - - - - - - 98902 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98902 - Amish nemaline myopathy - - Disease - - - - - - - - 171430 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171430 - Severe congenital nemaline myopathy - - Disease - - - - - - - - 171433 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171433 - Intermediate nemaline myopathy - - Disease - - - - - - - - 171436 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171436 - Typical nemaline myopathy - - Disease - - - - - - - - - - - - 98486 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98486 - Metabolic myopathy - - Category - - - - - - 206966 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206966 - Mitochondrial myopathy - - Category - - - - - - 502423 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=502423 - Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome - - Disease - - - - - - - - 480 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480 - Kearns-Sayre syndrome - - Disease - - - - - - - - 550 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=550 - MELAS - - Disease - - - - - - - - 551 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=551 - MERRF - - Disease - - - - - - - - 2609 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2609 - Isolated complex I deficiency - - Disease - - - - - - - - 45 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=45 - Adenosine monophosphate deaminase deficiency - - Disease - - - - - - - - 111 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=111 - Barth syndrome - - Disease - - - - - - - - 2597 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2597 - Mitochondrial myopathy-lactic acidosis-deafness syndrome - - Disease - - - - - - - - 2598 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2598 - Mitochondrial myopathy and sideroblastic anemia - - Disease - - - - - - - - 746 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=746 - Mitochondrial trifunctional protein deficiency - - Disease - - - - - - - - 3208 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3208 - Isolated succinate-CoQ reductase deficiency - - Disease - - - - - - - - 663 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=663 - Mitochondrial DNA-related progressive external ophthalmoplegia - - Disease - - - - - - - - 298 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=298 - Mitochondrial neurogastrointestinal encephalomyopathy - - Disease - - - - - - - - 70595 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70595 - Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome - - Disease - - - - - - - - 329314 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329314 - Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency - - Disease - - - - - - - - 329336 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329336 - Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy - - Disease - - - - - - - - 330054 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=330054 - Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome - - Disease - - - - - - - - 352470 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352470 - DNA2-related mitochondrial DNA deletion syndrome - - Disease - - - - - - - - 254875 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254875 - Mitochondrial DNA depletion syndrome, myopathic form - - Disease - - - - - - - - 352447 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352447 - Progressive external ophthalmoplegia-myopathy-emaciation syndrome - - Disease - - - - - - - - 457050 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457050 - Autosomal dominant mitochondrial myopathy with exercise intolerance - - Disease - - - - - - - - - - 43115 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=43115 - Hereditary myopathy with lactic acidosis due to ISCU deficiency - - Disease - - - - - - - - 171690 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171690 - Metabolic myopathy due to lactate transporter defect - - Disease - - - - - - - - 206953 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206953 - Muscular lipidosis - - Category - - - - - - 157 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157 - Carnitine palmitoyltransferase II deficiency - - Disease - - - - - - 228302 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228302 - Carnitine palmitoyl transferase II deficiency, myopathic form - - Clinical subtype - - - - - - - - 228305 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228305 - Carnitine palmitoyl transferase II deficiency, severe infantile form - - Clinical subtype - - - - - - - - 228308 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228308 - Carnitine palmitoyl transferase II deficiency, neonatal form - - Clinical subtype - - - - - - - - - - 165 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=165 - Neutral lipid storage disease - - Clinical group - - - - - - 98907 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98907 - Neutral lipid storage disease with ichthyosis - - Disease - - - - - - - - 98908 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98908 - Neutral lipid storage disease with myopathy - - Disease - - - - - - - - 692305 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=692305 - Triglyceride deposit cardiomyovasculopathy - - Disease - - - - - - 692296 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=692296 - Idiopathic triglyceride deposit cardiomyovasculopathy - - Etiological subtype - - - - - - - - 565612 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=565612 - Primary triglyceride deposit cardiomyovasculopathy - - Etiological subtype - - - - - - - - - - - - 158 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158 - Systemic primary carnitine deficiency - - Disease - - - - - - - - 2596 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2596 - Myopathy and diabetes mellitus - - Disease - - - - - - - - 26791 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=26791 - Multiple acyl-CoA dehydrogenase deficiency - - Disease - - - - - - 394529 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=394529 - Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type - - Clinical subtype - - - - - - - - 394532 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=394532 - Multiple acyl-CoA dehydrogenase deficiency, mild type - - Clinical subtype - - - - - - - - - - 26792 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=26792 - Short chain acyl-CoA dehydrogenase deficiency - - Disease - - - - - - - - 26793 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=26793 - Very long chain acyl-CoA dehydrogenase deficiency - - Disease - - - - - - - - 99845 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99845 - Genetic recurrent myoglobinuria - - Disease - - - - - - - - 99846 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99846 - Autosomal dominant myoglobinuria - - Disease - - - - - - - - - - 206959 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206959 - Muscular glycogenosis - - Clinical group - - - - - - 365 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=365 - Glycogen storage disease due to acid maltase deficiency - - Disease - - - - - - 308552 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308552 - Glycogen storage disease due to acid maltase deficiency, infantile onset - - Clinical subtype - - - - - - - - 420429 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420429 - Glycogen storage disease due to acid maltase deficiency, late-onset - - Clinical subtype - - - - - - - - - - 366 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=366 - Glycogen storage disease due to glycogen debranching enzyme deficiency - - Disease - - - - - - - - 367 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=367 - Glycogen storage disease due to glycogen branching enzyme deficiency - - Disease - - - - - - 206583 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206583 - Adult polyglucosan body disease - - Clinical subtype - - - - - - - - 308621 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308621 - Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form - - Clinical subtype - - - - - - - - 308638 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308638 - Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form - - Clinical subtype - - - - - - - - 308655 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308655 - Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form - - Clinical subtype - - - - - - - - 308670 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308670 - Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form - - Clinical subtype - - - - - - - - 308684 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308684 - Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form - - Clinical subtype - - - - - - - - 308698 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308698 - Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form - - Clinical subtype - - - - - - - - 308712 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308712 - Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form - - Clinical subtype - - - - - - - - - - 368 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=368 - Glycogen storage disease due to muscle glycogen phosphorylase deficiency - - Disease - - - - - - - - 371 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=371 - Glycogen storage disease due to muscle phosphofructokinase deficiency - - Disease - - - - - - - - 715 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=715 - Glycogen storage disease due to muscle phosphorylase kinase deficiency - - Disease - - - - - - - - 713 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=713 - Glycogen storage disease due to phosphoglycerate kinase 1 deficiency - - Disease - - - - - - - - 34587 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=34587 - Danon disease - - Disease - - - - - - - - 79240 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79240 - Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency - - Disease - - - - - - - - 97234 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97234 - Glycogen storage disease due to phosphoglycerate mutase deficiency - - Disease - - - - - - - - 99849 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99849 - Glycogen storage disease due to muscle beta-enolase deficiency - - Disease - - - - - - - - 263297 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263297 - Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency - - Disease - - - - - - - - 284426 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284426 - Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency - - Clinical subtype - - - - - - - - 397937 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397937 - Polyglucosan body myopathy type 1 - - Disease - - - - - - - - 456369 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=456369 - Polyglucosan body myopathy type 2 - - Disease - - - - - - - - - - - - 206662 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206662 - Inclusion myopathy - - Category - - - - - - 602 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=602 - GNE myopathy - - Disease - - - - - - - - 25980 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=25980 - X-linked myopathy with excessive autophagy - - Disease - - - - - - - - 52430 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52430 - Inclusion body myopathy with Paget disease of bone and frontotemporal dementia - - Disease - - - - - - - - 79091 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79091 - Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome - - Disease - - - - - - - - 84132 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=84132 - Desmin-related myopathy with Mallory body-like inclusions - - Disease - - - - - - - - 98909 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98909 - Desminopathy - - Disease - - - - - - - - 178464 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178464 - Hereditary myopathy with early respiratory failure - - Disease - - - - - - - - 324381 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324381 - Hereditary inclusion body myopathy type 4 - - Disease - - - - - - - - 363677 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363677 - Childhood-onset autosomal recessive myopathy with external ophthalmoplegia - - Disease - - - - - - - - - - 289377 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289377 - Early-onset myopathy with fatal cardiomyopathy - - Disease - - - - - - - - 401768 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401768 - Proximal myopathy with extrapyramidal signs - - Disease - - - - - - - - 607 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=607 - Nemaline myopathy - - Clinical group - - - - - - 98902 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98902 - Amish nemaline myopathy - - Disease - - - - - - - - 171430 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171430 - Severe congenital nemaline myopathy - - Disease - - - - - - - - 171433 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171433 - Intermediate nemaline myopathy - - Disease - - - - - - - - 171436 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171436 - Typical nemaline myopathy - - Disease - - - - - - - - 171439 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171439 - Childhood-onset nemaline myopathy - - Disease - - - - - - - - 171442 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171442 - Adult-onset nemaline myopathy - - Disease - - - - - - - - - - 221043 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221043 - Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome - - Disease - - - - - - - - 289380 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289380 - Myosclerosis - - Disease - - - - - - - - - - 206970 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206970 - Myotonic syndrome - - Category - - - - - - 684 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=684 - Paramyotonia congenita of Von Eulenburg - - Disease - - - - - - - - 612 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=612 - Potassium-aggravated myotonia - - Clinical group - - - - - - 99734 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99734 - Myotonia fluctuans - - Disease - - - - - - - - 99735 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99735 - Myotonia permanens - - Disease - - - - - - - - 99736 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99736 - Acetazolamide-responsive myotonia - - Disease - - - - - - - - - - 206647 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206647 - Myotonic dystrophy - - Clinical group - - - - - - 273 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=273 - Steinert myotonic dystrophy - - Disease - - - - - - 589824 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589824 - Childhood-onset Steinert myotonic dystrophy - - Clinical subtype - - - - - - - - 589827 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589827 - Juvenile-onset Steinert myotonic dystrophy - - Clinical subtype - - - - - - - - 589830 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589830 - Adult-onset Steinert myotonic dystrophy - - Clinical subtype - - - - - - - - 589833 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589833 - Late-onset Steinert myotonic dystrophy - - Clinical subtype - - - - - - - - 589821 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589821 - Congenital-onset Steinert myotonic dystrophy - - Clinical subtype - - - - - - - - - - 606 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=606 - Proximal myotonic myopathy - - Disease - - - - - - - - - - 206973 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206973 - Congenital myotonia - - Clinical group - - - - - - 614 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=614 - Thomsen and Becker disease - - Disease - - - - - - - - 800 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=800 - Schwartz-Jampel syndrome - - Disease - - - - - - - - 3101 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3101 - Richieri Costa-da Silva syndrome - - Malformation syndrome - - - - - - - - - - - - 371433 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=371433 - Genetic periodic paralysis - - Category - - - - - - 681 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=681 - Hypokalemic periodic paralysis - - Disease - - - - - - - - 682 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=682 - Hyperkalemic periodic paralysis - - Disease - - - - - - - - 37553 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=37553 - Andersen-Tawil syndrome - - Disease - - - - - - - - 397750 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397750 - Periodic paralysis with later-onset distal motor neuropathy - - Disease - - - - - - - - 397755 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397755 - Periodic paralysis with transient compartment-like syndrome - - Disease - - - - - - - - - - - - 207049 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=207049 - Qualitative or quantitative protein defects in neuromuscular diseases - - Category - - - - - - 207052 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=207052 - Qualitative or quantitative defects of sarcoglycan - - Category - - - - - - 207060 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=207060 - Qualitative or quantitative defects of alpha-sarcoglycan - - Category - - - - - - 62 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=62 - Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3 - - Disease - - - - - - - - - - 207063 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=207063 - Qualitative or quantitative defects of beta-sarcoglycan - - Category - - - - - - 119 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=119 - Beta-sarcoglycan-related limb-girdle muscular dystrophy R4 - - Disease - - - - - - - - - - 207067 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=207067 - Qualitative or quantitative defects of gamma-sarcoglycan - - Category - - - - - - 353 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353 - Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 - - Disease - - - - - - - - - - 207070 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=207070 - Qualitative or quantitative defects of delta-sarcoglycan - - Category - - - - - - 219 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=219 - Delta-sarcoglycan-related limb-girdle muscular dystrophy R6 - - Disease - - - - - - - - - - - - 207073 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=207073 - Qualitative or quantitative defects of dysferlin - - Category - - - - - - 268 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268 - Dysferlin-related limb-girdle muscular dystrophy R2 - - Disease - - - - - - - - 45448 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=45448 - Miyoshi myopathy - - Disease - - - - - - - - 178400 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178400 - Distal myopathy with anterior tibial onset - - Disease - - - - - - - - 199329 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199329 - Congenital myopathy, Paradas type - - Disease - - - - - - - - - - 207078 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=207078 - Qualitative or quantitative defects of caveolin-3 - - Category - - - - - - 97238 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97238 - Rippling muscle disease - - Disease - - - - - - - - 206599 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206599 - Isolated asymptomatic elevation of creatine phosphokinase - - Biological anomaly - - - - - - - - 488650 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488650 - Distal myopathy, Tateyama type - - Disease - - - - - - - - - - 207085 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=207085 - Qualitative or quantitative defects of dystrophin - - Category - - - - - - 154 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=154 - Familial isolated dilated cardiomyopathy - - Disease - - - - - - - - 98895 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98895 - Becker muscular dystrophy - - Disease - - - - - - - - 98896 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98896 - Duchenne muscular dystrophy - - Disease - - - - - - - - 206546 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206546 - Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers - - Disease - - - - - - - - 206599 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206599 - Isolated asymptomatic elevation of creatine phosphokinase - - Biological anomaly - - - - - - - - - - 207090 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=207090 - Qualitative or quantitative defects of collagen 6 - - Category - - - - - - 646098 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=646098 - Collagen VI-related congenital muscular dystrophy - - Clinical group - - - - - - 610 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=610 - Bethlem muscular dystrophy - - Disease - - - - - - - - 75840 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75840 - Ullrich congenital muscular dystrophy - - Disease - - - - - - - - 646113 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=646113 - Intermediate collagen VI-related muscular dystrophy - - Disease - - - - - - - - - - 289380 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289380 - Myosclerosis - - Disease - - - - - - - - - - 207094 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=207094 - Laminin subunit alpha 2-related muscular dystrophy - - Category - - - - - - 258 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=258 - Laminin subunit alpha 2-related congenital muscular dystrophy - - Malformation syndrome - - - - - - - - 565837 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=565837 - Laminin subunit alpha 2-related limb-girdle muscular dystrophy R23 - - Disease - - - - - - - - - - 207098 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=207098 - Qualitative or quantitative defects of integrin alpha-7 - - Category - - - - - - 34520 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=34520 - Congenital muscular dystrophy with integrin alpha-7 deficiency - - Disease - - - - - - - - - - 207101 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=207101 - Qualitative or quantitative defects of perlecan - - Category - - - - - - 800 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=800 - Schwartz-Jampel syndrome - - Disease - - - - - - - - - - 207104 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=207104 - Qualitative or quantitative defects of calpain - - Category - - - - - - 565909 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=565909 - Calpain-3-related limb-girdle muscular dystrophy D4 - - Disease - - - - - - - - 267 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=267 - Calpain-3-related limb-girdle muscular dystrophy R1 - - Disease - - - - - - - - - - 207107 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=207107 - Qualitative or quantitative defects of TRIM32 - - Category - - - - - - 1878 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1878 - TRIM32-related limb-girdle muscular dystrophy R8 - - Disease - - - - - - - - - - 207110 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=207110 - Qualitative or quantitative defects of myotubularin - - Category - - - - - - 596 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=596 - X-linked centronuclear myopathy - - Disease - - - - - - - - 456328 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=456328 - X-linked myotubular myopathy-abnormal genitalia syndrome - - Disease - - - - - - - - 604680 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=604680 - Symptomatic form of X-linked centronuclear myopathy in female carriers - - Disease - - - - - - - - - - 209038 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209038 - Qualitative or quantitative defects of myofibrillar proteins - - Category - - - - - - 209041 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209041 - Qualitative or quantitative defects of desmin - - Category - - - - - - 84132 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=84132 - Desmin-related myopathy with Mallory body-like inclusions - - Disease - - - - - - - - 85146 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85146 - Neurogenic scapuloperoneal syndrome, Kaeser type - - Disease - - - - - - - - 97244 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97244 - Rigid spine syndrome - - Disease - - - - - - - - 98909 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98909 - Desminopathy - - Disease - - - - - - - - - - 209044 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209044 - Qualitative or quantitative defects of alphaB-cristallin - - Category - - - - - - 98910 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98910 - Alpha-crystallinopathy - - Clinical group - - - - - - 280553 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280553 - Fatal infantile hypertonic myofibrillar myopathy - - Disease - - - - - - - - 399058 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399058 - Alpha-B crystallin-related late-onset myopathy - - Disease - - - - - - - - - - - - 209047 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209047 - Qualitative or quantitative defects of filamin C - - Category - - - - - - 171445 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171445 - Muscle filaminopathy - - Disease - - - - - - - - - - 209050 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209050 - Qualitative or quantitative defects of protein ZASP - - Category - - - - - - 98912 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98912 - Late-onset distal myopathy, Markesbery-Griggs type - - Disease - - - - - - - - - - - - 209053 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209053 - Qualitative or quantitative defects of titin - - Category - - - - - - 609 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=609 - Tibial muscular dystrophy - - Disease - - - - - - - - 140922 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140922 - Titin-related limb-girdle muscular dystrophy R10 - - Disease - - - - - - - - 169186 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169186 - Autosomal recessive centronuclear myopathy - - Disease - - - - - - - - 178464 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178464 - Hereditary myopathy with early respiratory failure - - Disease - - - - - - - - 289377 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289377 - Early-onset myopathy with fatal cardiomyopathy - - Disease - - - - - - - - - - 209056 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209056 - Qualitative or quantitative defects of telethonin - - Category - - - - - - 34514 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=34514 - Telethonin-related limb-girdle muscular dystrophy R7 - - Disease - - - - - - - - - - 209059 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209059 - Qualitative or quantitative defects of alpha-actin - - Category - - - - - - 2020 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2020 - Congenital fiber-type disproportion myopathy - - Disease - - - - - - - - 98904 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98904 - Congenital myopathy with excess of thin filaments - - Disease - - - - - - - - 171430 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171430 - Severe congenital nemaline myopathy - - Disease - - - - - - - - 171433 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171433 - Intermediate nemaline myopathy - - Disease - - - - - - - - 171436 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171436 - Typical nemaline myopathy - - Disease - - - - - - - - 171439 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171439 - Childhood-onset nemaline myopathy - - Disease - - - - - - - - 171442 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171442 - Adult-onset nemaline myopathy - - Disease - - - - - - - - - - 209182 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209182 - Qualitative or quantitative defects of nebulin - - Category - - - - - - 171430 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171430 - Severe congenital nemaline myopathy - - Disease - - - - - - - - 171433 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171433 - Intermediate nemaline myopathy - - Disease - - - - - - - - 171436 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171436 - Typical nemaline myopathy - - Disease - - - - - - - - 171439 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171439 - Childhood-onset nemaline myopathy - - Disease - - - - - - - - 171442 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171442 - Adult-onset nemaline myopathy - - Disease - - - - - - - - - - 209185 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209185 - Qualitative or quantitative defects of beta-myosin heavy chain (MYH7) - - Category - - - - - - 53698 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53698 - Myosin storage myopathy - - Disease - - - - - - 636965 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=636965 - Autosomal dominant myosin storage myopathy - - Clinical subtype - - - - - - - - 636970 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=636970 - Autosomal recessive myosin storage myopathy - - Clinical subtype - - - - - - - - - - 59135 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=59135 - Laing distal myopathy - - Disease - - - - - - - - - - 209188 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209188 - Qualitative or quantitative defects of emerin - - Category - - - - - - 98863 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98863 - X-linked Emery-Dreifuss muscular dystrophy - - Etiological subtype - - - - - - - - - - 209193 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209193 - Qualitative or quantitative defects of selenoprotein N1 - - Category - - - - - - 2020 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2020 - Congenital fiber-type disproportion myopathy - - Disease - - - - - - - - 598 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=598 - Multiminicore myopathy - - Disease - - - - - - 98905 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98905 - Congenital multicore myopathy with external ophthalmoplegia - - Clinical subtype - - - - - - - - 178145 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178145 - Moderate multiminicore disease with hand involvement - - Clinical subtype - - - - - - - - 178148 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178148 - Antenatal multiminicore disease with arthrogryposis multiplex congenita - - Clinical subtype - - - - - - - - 324604 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324604 - Classic multiminicore myopathy - - Clinical subtype - - - - - - - - - - 84132 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=84132 - Desmin-related myopathy with Mallory body-like inclusions - - Disease - - - - - - - - 97244 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97244 - Rigid spine syndrome - - Disease - - - - - - - - - - 209196 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209196 - Qualitative or quantitative defects of plectin - - Category - - - - - - 257 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=257 - Epidermolysis bullosa simplex with muscular dystrophy - - Disease - - - - - - - - 254361 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254361 - Plectin-related limb-girdle muscular dystrophy R17 - - Disease - - - - - - - - - - 209199 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209199 - Qualitative or quantitative defects of protein SERCA1 - - Category - - - - - - 53347 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53347 - Brody myopathy - - Disease - - - - - - - - 88635 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88635 - Vacuolar myopathy with sarcoplasmic reticulum protein aggregates - - Disease - - - - - - - - - - 209203 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209203 - Qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase - - - Category - - - - - - 602 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=602 - GNE myopathy - - Disease - - - - - - - - - - 209224 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209224 - Myotilinopathy - - Category - - - - - - 98911 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98911 - Distal myotilinopathy - - Disease - - - - - - - - 268129 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268129 - Spheroid body myopathy - - Disease - - - - - - - - - - 284786 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284786 - Qualitative or quantitative defects of troponin - - Category - - - - - - 98902 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98902 - Amish nemaline myopathy - - Disease - - - - - - - - - - 284790 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284790 - Qualitative or quantitative defects of tropomyosin - - Category - - - - - - 2020 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2020 - Congenital fiber-type disproportion myopathy - - Disease - - - - - - - - 171433 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171433 - Intermediate nemaline myopathy - - Disease - - - - - - - - 171436 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171436 - Typical nemaline myopathy - - Disease - - - - - - - - 171439 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171439 - Childhood-onset nemaline myopathy - - Disease - - - - - - - - 171881 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171881 - Cap myopathy - - Disease - - - - - - - - 476406 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=476406 - Congenital generalized hypercontractile muscle stiffness syndrome - - Disease - - - - - - - - - - 371024 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=371024 - Qualitative or quantitative defects of alpha-dystroglycan - - Category - - - - - - 207113 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=207113 - Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan - - Category - - - - - - 207119 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=207119 - Qualitative or quantitative defects of FKRP - - Category - - - - - - 899 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=899 - Walker-Warburg syndrome - - Disease - - - - - - - - 588 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=588 - Muscle-eye-brain disease - - Malformation syndrome - - - - - - - - 34515 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=34515 - FKRP-related limb-girdle muscular dystrophy R9 - - Disease - - - - - - - - - - 207122 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=207122 - Qualitative or quantitative defects of fukutin - - Category - - - - - - 272 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=272 - Congenital muscular dystrophy, Fukuyama type - - Malformation syndrome - - - - - - - - 899 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=899 - Walker-Warburg syndrome - - Disease - - - - - - - - 588 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=588 - Muscle-eye-brain disease - - Malformation syndrome - - - - - - - - 206549 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206549 - Anoctamin-5-related limb-girdle muscular dystrophy R12 - - Disease - - - - - - - - 206554 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206554 - Fukutin-related limb-girdle muscular dystrophy R13 - - Disease - - - - - - - - - - 209024 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209024 - Qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase - - Category - - - - - - 899 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=899 - Walker-Warburg syndrome - - Disease - - - - - - - - 588 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=588 - Muscle-eye-brain disease - - Malformation syndrome - - - - - - - - 206564 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206564 - POMGNT1-related limb-girdle muscular dystrophy R15 - - Disease - - - - - - - - - - 209027 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209027 - Qualitative or quantitative defects of protein glycosyltransferase-like - - Category - - - - - - - - 209030 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209030 - Qualitative or quantitative defects of protein O-mannosyltransferase 1 - - Category - - - - - - 899 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=899 - Walker-Warburg syndrome - - Disease - - - - - - - - 86812 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86812 - POMT1-related limb-girdle muscular dystrophy R11 - - Disease - - - - - - - - - - 209033 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209033 - Qualitative or quantitative defects of protein O-mannosyltransferase 2 - - Category - - - - - - 899 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=899 - Walker-Warburg syndrome - - Disease - - - - - - - - 588 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=588 - Muscle-eye-brain disease - - Malformation syndrome - - - - - - - - 206559 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206559 - POMT2-related limb-girdle muscular dystrophy R14 - - Disease - - - - - - - - - - 352479 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352479 - ISPD-related limb-girdle muscular dystrophy R20 - - Disease - - - - - - - - 445110 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=445110 - Limb-girdle muscular dystrophy due to POMK deficiency - - Disease - - - - - - - - 565899 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=565899 - POMGNT2-related limb-girdle muscular dystrophy R24 - - Disease - - - - - - - - - - 371040 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=371040 - Primary qualitative or quantitative defects of alpha-dystroglycan - - Category - - - - - - 280333 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280333 - Alpha-dystroglycan-related limb-girdle muscular dystrophy R16 - - Disease - - - - - - - - 370997 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370997 - Muscle-eye-brain disease with bilateral multicystic leucodystrophy - - Disease - - - - - - - - - - - - 424925 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424925 - Qualitative or quantitative defects of Torsin-1A-interacting protein 1 - - Category - - - - - - 424261 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424261 - TOR1AIP1-related limb-girdle muscular dystrophy - - Disease - - - - - - - - - - - - 98737 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98737 - Genetic neurological muscular channelopathy - - Category - - - - - - 98738 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98738 - Neurological muscular channelopathy due to a genetic sodium channel defect - - Category - - - - - - 684 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=684 - Paramyotonia congenita of Von Eulenburg - - Disease - - - - - - - - 681 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=681 - Hypokalemic periodic paralysis - - Disease - - - - - - - - 682 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=682 - Hyperkalemic periodic paralysis - - Disease - - - - - - - - 612 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=612 - Potassium-aggravated myotonia - - Clinical group - - - - - - 99734 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99734 - Myotonia fluctuans - - Disease - - - - - - - - 99735 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99735 - Myotonia permanens - - Disease - - - - - - - - 99736 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99736 - Acetazolamide-responsive myotonia - - Disease - - - - - - - - - - 98913 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98913 - Postsynaptic congenital myasthenic syndromes - - Etiological subtype - - - - - - - - 562528 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=562528 - Congenital limbs-face contractures-hypotonia-developmental delay syndrome - - Malformation syndrome - - - - - - - - 1146 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1146 - Distal arthrogryposis type 1 - - Malformation syndrome - - - - - - - - 2053 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2053 - Freeman-Sheldon syndrome - - Malformation syndrome - - - - - - - - 371364 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=371364 - Hypotonia-speech impairment-severe cognitive delay syndrome - - Disease - - - - - - 700333 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700333 - Hypotonia-speech impairment-severe cognitive delay syndrome due to UNC80 deficiency - - Clinical subtype - - - - - - - - 700336 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700336 - Hypotonia-speech impairment-severe cognitive delay syndrome due to NALCN deficiency - - Clinical subtype - - - - - - - - - - 1147 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1147 - Sheldon-Hall syndrome - - Malformation syndrome - - - - - - - - - - 98739 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98739 - Neurological muscular channelopathy due to a genetic chloride channel defect - - Category - - - - - - 614 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=614 - Thomsen and Becker disease - - Disease - - - - - - - - - - 98740 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98740 - Neurological muscular channelopathy due to a genetic calcium channel defect - - Category - - - - - - 681 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=681 - Hypokalemic periodic paralysis - - Disease - - - - - - - - 397755 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397755 - Periodic paralysis with transient compartment-like syndrome - - Disease - - - - - - - - - - 98741 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98741 - Neurological muscular channelopathy due to a genetic potassium channel defect - - Category - - - - - - 681 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=681 - Hypokalemic periodic paralysis - - Disease - - - - - - - - 37553 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=37553 - Andersen-Tawil syndrome - - Disease - - - - - - - - 36899 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36899 - Myoclonus-dystonia syndrome - - Disease - - - - - - - - 972 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=972 - Hereditary continuous muscle fiber activity - - Disease - - - - - - - - - - 98742 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98742 - Neurological muscular channelopathy due to a genetic ryanodine receptor defect - - Category - - - - - - 597 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=597 - Central core disease - - Disease - - - - - - - - 423 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423 - Malignant hyperthermia of anesthesia - - Disease - - - - - - - - 169186 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169186 - Autosomal recessive centronuclear myopathy - - Disease - - - - - - - - 324581 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324581 - Benign Samaritan congenital myopathy - - Disease - - - - - - - - 98905 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98905 - Congenital multicore myopathy with external ophthalmoplegia - - Clinical subtype - - - - - - - - 424107 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424107 - Congenital myopathy with myasthenic-like onset - - Disease - - - - - - - - 99741 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99741 - King-Denborough syndrome - - Malformation syndrome - - - - - - - - 178145 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178145 - Moderate multiminicore disease with hand involvement - - Clinical subtype - - - - - - - - - - - - - - 183500 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183500 - Genetic neurodegenerative disease - - Category - - - - - - 478029 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=478029 - Combined oxidative phosphorylation defect type 29 - - Disease - - - - - - - - 58 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=58 - Alexander disease - - Disease - - - - - - 363717 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363717 - Alexander disease type I - - Clinical subtype - - - - - - - - 363722 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363722 - Alexander disease type II - - Clinical subtype - - - - - - - - - - 141 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141 - Canavan disease - - Disease - - - - - - 314911 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314911 - Severe Canavan disease - - Clinical subtype - - - - - - - - 314918 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314918 - Mild Canavan disease - - Clinical subtype - - - - - - - - - - 487 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=487 - Krabbe disease - - Disease - - - - - - 206443 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206443 - Late-infantile/juvenile Krabbe disease - - Clinical subtype - - - - - - - - 206448 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206448 - Adult Krabbe disease - - Clinical subtype - - - - - - - - 206436 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206436 - Infantile Krabbe disease - - Clinical subtype - - - - - - - - - - 481 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=481 - Kennedy disease - - Disease - - - - - - - - 167 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=167 - Chédiak-Higashi syndrome - - Disease - - - - - - - - 191 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=191 - Cockayne syndrome - - Disease - - - - - - 1466 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1466 - COFS syndrome - - Clinical subtype - - - - - - - - 90321 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90321 - Cockayne syndrome type 1 - - Clinical subtype - - - - - - - - 90322 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90322 - Cockayne syndrome type 2 - - Clinical subtype - - - - - - - - 90324 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90324 - Cockayne syndrome type 3 - - Clinical subtype - - - - - - - - - - 216 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216 - Neuronal ceroid lipofuscinosis - - Clinical group - - - - - - 228329 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228329 - CLN1 disease - - Disease - - - - - - 699718 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699718 - Infantile CLN1 disease - - Clinical subtype - - - - - - - - 699739 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699739 - Juvenile CLN1 disease - - Clinical subtype - - - - - - - - 699745 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699745 - Adult CLN1 disease - - Clinical subtype - - - - - - - - 699734 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699734 - Late infantile CLN1 disease - - Clinical subtype - - - - - - - - - - 228349 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228349 - CLN2 disease - - Disease - - - - - - 699751 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699751 - Infantile CLN2 disease - - Clinical subtype - - - - - - - - 699769 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699769 - Juvenile CLN2 disease - - Clinical subtype - - - - - - - - 699761 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699761 - Late infantile CLN2 disease - - Clinical subtype - - - - - - - - - - 228346 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228346 - CLN3 disease - - Disease - - - - - - 699780 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699780 - Juvenile CLN3 disease - - Clinical subtype - - - - - - - - 699796 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699796 - Protracted juvenile CLN3 disease - - Clinical subtype - - - - - - - - - - 228343 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228343 - CLN4 disease - - Disease - - - - - - - - 314632 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314632 - CLN12 disease - - Disease - - - - - - - - 314629 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314629 - CLN11 disease - - Disease - - - - - - - - 699708 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699708 - CLN14 disease - - Disease - - - - - - - - 228360 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228360 - CLN5 disease - - Disease - - - - - - 699802 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699802 - Late infantile CLN5 disease - - Clinical subtype - - - - - - - - 699807 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699807 - Juvenile CLN5 disease - - Clinical subtype - - - - - - - - 699812 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699812 - Adult CLN5 disease - - Clinical subtype - - - - - - - - - - 228363 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228363 - CLN6 disease - - Disease - - - - - - 700477 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700477 - Adult CLN6 disease - - Clinical subtype - - - - - - - - 700467 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700467 - Late infantile CLN6 disease - - Clinical subtype - - - - - - - - 700472 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700472 - Juvenile CLN6 disease - - Clinical subtype - - - - - - - - - - 228366 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228366 - CLN7 disease - - Disease - - - - - - - - 228354 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228354 - CLN8 disease - - Disease - - - - - - 700484 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700484 - Late infantile CLN8 disease - - Clinical subtype - - - - - - - - 1947 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1947 - Northern epilepsy - - Clinical subtype - - - - - - - - - - 352709 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352709 - CLN13 disease - - Disease - - - - - - - - 228337 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228337 - CLN10 disease - - Disease - - - - - - 700487 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700487 - Congenital CLN10 disease - - Clinical subtype - - - - - - - - 700492 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700492 - Late infantile CLN10 disease - - Clinical subtype - - - - - - - - 700497 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700497 - Juvenile CLN10 disease - - Clinical subtype - - - - - - - - - - - - 685 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=685 - Hereditary spastic paraplegia - - Clinical group - - - - - - 102012 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=102012 - Pure hereditary spastic paraplegia - - Clinical group - - - - - - 100980 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100980 - Autosomal dominant pure spastic paraplegia - - Clinical group - - - - - - 100993 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100993 - Autosomal dominant spastic paraplegia type 12 - - Disease - - - - - - - - 100999 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100999 - Autosomal dominant spastic paraplegia type 19 - - Disease - - - - - - - - 171612 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171612 - Autosomal dominant spastic paraplegia type 37 - - Disease - - - - - - - - 171863 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171863 - Autosomal dominant spastic paraplegia type 42 - - Disease - - - - - - - - 320355 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=320355 - Autosomal dominant spastic paraplegia type 41 - - Disease - - - - - - - - 401849 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401849 - Autosomal spastic paraplegia type 72 - - Disease - - - - - - - - 444099 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444099 - Autosomal dominant spastic paraplegia type 73 - - Disease - - - - - - - - 689231 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=689231 - IFIH1-related hereditary spastic paraplegia - - Disease - - - - - - - - 694356 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=694356 - ADAR-related hereditary spastic paraplegia - - Disease - - - - - - - - 631068 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=631068 - Autosomal dominant spastic paraplegia type 80 - - Disease - - - - - - - - - - 100982 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100982 - Autosomal recessive pure spastic paraplegia - - Clinical group - - - - - - 101004 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101004 - Autosomal recessive spastic paraplegia type 24 - - Disease - - - - - - - - 101008 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101008 - Autosomal recessive spastic paraplegia type 28 - - Disease - - - - - - - - 401785 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401785 - Autosomal recessive spastic paraplegia type 62 - - Disease - - - - - - - - 401840 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401840 - Autosomal recessive spastic paraplegia type 71 - - Disease - - - - - - - - 401849 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401849 - Autosomal spastic paraplegia type 72 - - Disease - - - - - - - - 631076 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=631076 - Autosomal recessive spastic paraplegia type 83 - - Disease - - - - - - - - 689234 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=689234 - RNASEH2B-related hereditary spastic paraplegia - - Disease - - - - - - - - - - 320332 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=320332 - X-linked pure spastic paraplegia - - Clinical group - - - - - - 171607 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171607 - X-linked spastic paraplegia type 34 - - Disease - - - - - - - - - - - - 102013 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=102013 - Complex hereditary spastic paraplegia - - Clinical group - - - - - - 98888 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98888 - X-linked complex spastic paraplegia - - Clinical group - - - - - - 2466 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2466 - MASA syndrome - - Clinical subtype - - - - - - - - - - 100979 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100979 - Autosomal dominant complex spastic paraplegia - - Clinical group - - - - - - 447753 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447753 - Autosomal dominant spastic paraplegia type 9A - - Disease - - - - - - - - 2819 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2819 - Spastic paraplegia-facial-cutaneous lesions syndrome - - Malformation syndrome - - - - - - - - 2820 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2820 - Spastic paraplegia-nephritis-deafness syndrome - - Clinical syndrome - - - - - - - - 2821 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2821 - Spastic paraplegia-neuropathy-poikiloderma syndrome - - Disease - - - - - - - - 2826 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2826 - Spastic paraplegia-precocious puberty syndrome - - Disease - - - - - - - - 521390 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521390 - Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome - - Malformation syndrome - - - - - - - - 100998 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100998 - Autosomal dominant spastic paraplegia type 17 - - Disease - - - - - - - - 101009 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101009 - Autosomal dominant spastic paraplegia type 29 - - Disease - - - - - - - - 171617 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171617 - Autosomal dominant spastic paraplegia type 38 - - Disease - - - - - - - - 320365 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=320365 - Autosomal dominant spastic paraplegia type 36 - - Disease - - - - - - - - 329475 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329475 - Spastic paraplegia-Paget disease of bone syndrome - - Disease - - - - - - - - 615938 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=615938 - Spastic paraparesis-cataracts-speech delay syndrome - - Clinical syndrome - - - - - - - - - - 100981 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100981 - Autosomal recessive complex spastic paraplegia - - Clinical group - - - - - - 464282 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464282 - Spastic paraplegia-severe developmental delay-epilepsy syndrome - - Disease - - - - - - - - 477673 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477673 - Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome - - Disease - - - - - - - - 459056 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=459056 - Autosomal recessive spastic paraplegia type 75 - - Disease - - - - - - - - 2818 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2818 - Spastic paraplegia-glaucoma-intellectual disability syndrome - - Disease - - - - - - - - 100996 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100996 - Autosomal recessive spastic paraplegia type 15 - - Disease - - - - - - - - 101000 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101000 - Autosomal recessive spastic paraplegia type 20 - - Disease - - - - - - - - 101003 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101003 - Autosomal recessive spastic paraplegia type 23 - - Disease - - - - - - - - 101005 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101005 - Autosomal recessive spastic paraplegia type 25 - - Disease - - - - - - - - 101006 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101006 - Autosomal recessive spastic paraplegia type 26 - - Disease - - - - - - - - 139480 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139480 - Autosomal recessive spastic paraplegia type 39 - - Disease - - - - - - - - 139578 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139578 - Mutilating hereditary sensory neuropathy with spastic paraplegia - - Disease - - - - - - - - 171622 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171622 - Autosomal recessive spastic paraplegia type 32 - - Disease - - - - - - - - 280763 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280763 - Severe intellectual disability and progressive spastic paraplegia - - Disease - - - - - - - - 319199 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319199 - Autosomal recessive spastic paraplegia type 53 - - Disease - - - - - - - - 320370 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=320370 - Autosomal recessive spastic paraplegia type 43 - - Disease - - - - - - - - 320380 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=320380 - Autosomal recessive spastic paraplegia type 54 - - Disease - - - - - - - - 320385 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=320385 - Hereditary sensory and autonomic neuropathy due to TECPR2 mutation - - Disease - - - - - - - - 320391 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=320391 - Autosomal recessive spastic paraplegia type 46 - - Disease - - - - - - - - 320401 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=320401 - Autosomal recessive spastic paraplegia type 44 - - Disease - - - - - - - - 397946 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397946 - Autosomal spastic paraplegia type 58 - - Disease - - - - - - - - 401780 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401780 - Autosomal recessive spastic paraplegia type 61 - - Disease - - - - - - - - 401795 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401795 - Autosomal recessive spastic paraplegia type 59 - - Disease - - - - - - - - 401800 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401800 - Autosomal recessive spastic paraplegia type 60 - - Disease - - - - - - - - 401805 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401805 - Autosomal recessive spastic paraplegia type 63 - - Disease - - - - - - - - 401810 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401810 - Autosomal recessive spastic paraplegia type 64 - - Disease - - - - - - - - 401815 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401815 - Autosomal recessive spastic paraplegia type 66 - - Disease - - - - - - - - 401820 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401820 - Autosomal recessive spastic paraplegia type 67 - - Disease - - - - - - - - 401830 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401830 - Autosomal recessive spastic paraplegia type 69 - - Disease - - - - - - - - 401835 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401835 - Autosomal recessive spastic paraplegia type 70 - - Disease - - - - - - - - 431320 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=431320 - Spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder - - Clinical group - - - - - - 320406 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=320406 - Spastic paraplegia-optic atrophy-neuropathy syndrome - - Disease - - - - - - - - 431329 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=431329 - Autosomal recessive spastic paraplegia type 57 - - Disease - - - - - - - - 468661 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=468661 - Autosomal recessive spastic paraplegia type 74 - - Disease - - - - - - - - 320375 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=320375 - Autosomal recessive spastic paraplegia type 55 - - Disease - - - - - - - - - - 447760 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447760 - Autosomal recessive spastic paraplegia type 9B - - Disease - - - - - - - - 506353 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=506353 - Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction - - Disease - - - - - - - - 101001 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101001 - Autosomal recessive spastic paraplegia type 21 - - Disease - - - - - - - - 171629 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171629 - Autosomal recessive spastic paraplegia type 35 - - Disease - - - - - - - - 329308 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329308 - Fatty acid hydroxylase-associated neurodegeneration - - Disease - - - - - - - - 496689 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=496689 - Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome - - Disease - - - - - - - - 488594 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488594 - Autosomal recessive spastic paraplegia type 76 - - Disease - - - - - - - - 631073 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=631073 - Autosomal recessive spastic paraplegia type 82 - - Disease - - - - - - - - 631079 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=631079 - Autosomal recessive spastic paraplegia type 84 - - Disease - - - - - - - - 513436 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=513436 - Autosomal recessive spastic paraplegia type 78 - - Disease - - - - - - - - 631082 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=631082 - Autosomal recessive spastic paraplegia type 85 - - Disease - - - - - - - - 631085 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=631085 - Autosomal recessive spastic paraplegia type 86 - - Disease - - - - - - - - - - 320360 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=320360 - MT-ATP6-related mitochondrial spastic paraplegia - - Disease - - - - - - - - - - 320335 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=320335 - Pure or complex hereditary spastic paraplegia - - Clinical group - - - - - - 320342 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=320342 - Pure or complex autosomal dominant spastic paraplegia - - Clinical group - - - - - - 101010 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101010 - Autosomal spastic paraplegia type 30 - - Disease - - - - - - - - 209951 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209951 - Autosomal spastic paraplegia type 18 - - Disease - - - - - - - - 100984 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100984 - Autosomal dominant spastic paraplegia type 3 - - Disease - - - - - - - - 100985 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100985 - Autosomal dominant spastic paraplegia type 4 - - Disease - - - - - - - - 100988 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100988 - Autosomal dominant spastic paraplegia type 6 - - Disease - - - - - - - - 100991 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100991 - Autosomal dominant spastic paraplegia type 10 - - Disease - - - - - - - - 100994 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100994 - Autosomal dominant spastic paraplegia type 13 - - Disease - - - - - - - - 101011 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101011 - Autosomal dominant spastic paraplegia type 31 - - Disease - - - - - - - - 99013 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99013 - Spastic paraplegia type 7 - - Disease - - - - - - - - 447757 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447757 - Autosomal dominant spastic paraplegia type 9B - - Disease - - - - - - - - 100989 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100989 - Autosomal dominant spastic paraplegia type 8 - - Disease - - - - - - - - - - 320346 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=320346 - Pure or complex autosomal recessive spastic paraplegia - - Clinical group - - - - - - 631088 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=631088 - Autosomal recessive spastic paraplegia type 87 - - Disease - - - - - - - - 2429 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2429 - Macrocephaly-spastic paraplegia-dysmorphism syndrome - - Malformation syndrome - - - - - - - - 2822 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2822 - Autosomal recessive spastic paraplegia type 11 - - Disease - - - - - - - - 99013 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99013 - Spastic paraplegia type 7 - - Disease - - - - - - - - 100986 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100986 - Autosomal recessive spastic paraplegia type 5A - - Disease - - - - - - - - 100995 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100995 - Autosomal recessive spastic paraplegia type 14 - - Disease - - - - - - - - 101010 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101010 - Autosomal spastic paraplegia type 30 - - Disease - - - - - - - - 320396 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=320396 - Autosomal recessive spastic paraplegia type 45 - - Disease - - - - - - - - 306511 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306511 - Autosomal recessive spastic paraplegia type 48 - - Disease - - - - - - - - 320411 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=320411 - Autosomal recessive spastic paraplegia type 56 - - Disease - - - - - - - - 466722 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466722 - Autosomal recessive spastic paraplegia type 77 - - Disease - - - - - - - - 101007 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101007 - Autosomal recessive spastic paraplegia type 27 - - Disease - - - - - - - - - - 320350 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=320350 - Pure or complex X-linked spastic paraplegia - - Clinical group - - - - - - 59 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=59 - Allan-Herndon-Dudley syndrome - - Disease - - - - - - - - 99015 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99015 - Spastic paraplegia type 2 - - Disease - - - - - - - - 100997 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100997 - X-linked spastic paraplegia type 16 - - Disease - - - - - - - - - - - - - - 702 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=702 - Pelizaeus-Merzbacher disease - - Disease - - - - - - 280210 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280210 - Pelizaeus-Merzbacher disease, connatal form - - Clinical subtype - - - - - - - - 280219 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280219 - Pelizaeus-Merzbacher disease, classic form - - Clinical subtype - - - - - - - - 280224 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280224 - Pelizaeus-Merzbacher disease, transitional form - - Clinical subtype - - - - - - - - 280229 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280229 - Pelizaeus-Merzbacher disease in female carriers - - Clinical subtype - - - - - - - - 280234 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280234 - Null syndrome - - Clinical subtype - - - - - - - - - - 43 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=43 - X-linked adrenoleukodystrophy - - Disease - - - - - - 139396 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139396 - X-linked cerebral adrenoleukodystrophy - - Clinical subtype - - - - - - - - 139399 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139399 - Adrenomyeloneuropathy - - Clinical subtype - - - - - - - - - - 646 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=646 - Niemann-Pick disease type C - - Disease - - - - - - 216972 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216972 - Niemann-Pick disease type C, severe perinatal form - - Clinical subtype - - - - - - - - 216975 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216975 - Niemann-Pick disease type C, severe early infantile neurologic onset - - Clinical subtype - - - - - - - - 216978 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216978 - Niemann-Pick disease type C, late infantile neurologic onset - - Clinical subtype - - - - - - - - 216981 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216981 - Niemann-Pick disease type C, juvenile neurologic onset - - Clinical subtype - - - - - - - - 216986 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216986 - Niemann-Pick disease type C, adult neurologic onset - - Clinical subtype - - - - - - - - - - 726 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=726 - Alpers-Huttenlocher syndrome - - Disease - - - - - - - - 2836 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2836 - PEHO syndrome - - Disease - - - - - - - - 35689 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35689 - Primary lateral sclerosis - - Disease - - - - - - - - 52368 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52368 - Mohr-Tranebjaerg syndrome - - Disease - - - - - - - - 77299 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77299 - Microphthalmia-brain atrophy syndrome - - Malformation syndrome - - - - - - - - 83629 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83629 - Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome - - Disease - - - - - - - - 85162 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85162 - Facial onset sensory and motor neuronopathy - - Disease - - - - - - - - 85292 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85292 - X-linked spinocerebellar ataxia type 4 - - Disease - - - - - - - - 85334 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85334 - X-linked neurodegenerative syndrome, Bertini type - - Disease - - - - - - - - 85336 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85336 - X-linked neurodegenerative syndrome, Hamel type - - Disease - - - - - - - - 158266 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158266 - Huntington disease-like syndrome - - Clinical group - - - - - - 494541 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=494541 - Childhood-onset benign chorea with striatal involvement - - Disease - - - - - - - - 101 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101 - Dentatorubral pallidoluysian atrophy - - Disease - - - - - - - - 1429 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1429 - Benign hereditary chorea - - Disease - - - - - - - - 98755 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98755 - Spinocerebellar ataxia type 1 - - Disease - - - - - - - - 98756 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98756 - Spinocerebellar ataxia type 2 - - Disease - - - - - - - - 98757 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98757 - Spinocerebellar ataxia type 3 - - Disease - - - - - - 276238 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276238 - Machado-Joseph disease type 1 - - Clinical subtype - - - - - - - - 276241 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276241 - Machado-Joseph disease type 2 - - Clinical subtype - - - - - - - - 276244 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276244 - Machado-Joseph disease type 3 - - Clinical subtype - - - - - - - - - - 98759 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98759 - Spinocerebellar ataxia type 17 - - Disease - - - - - - - - 157846 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157846 - Neuroferritinopathy - - Disease - - - - - - - - 157946 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157946 - Huntington disease-like 3 - - Disease - - - - - - - - 263440 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263440 - Neuroacanthocytosis - - Clinical group - - - - - - 2388 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2388 - Choreoacanthocytosis - - Disease - - - - - - - - 59306 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=59306 - McLeod neuroacanthocytosis syndrome - - Disease - - - - - - - - 98934 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98934 - Huntington disease-like 2 - - Disease - - - - - - - - 157850 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157850 - Pantothenate kinase-associated neurodegeneration - - Disease - - - - - - 216866 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216866 - Classic pantothenate kinase-associated neurodegeneration - - Clinical subtype - - - - - - - - 216873 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216873 - Atypical pantothenate kinase-associated neurodegeneration - - Clinical subtype - - - - - - - - - - - - - - 217382 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217382 - Neurodegenerative syndrome due to cerebral folate transport deficiency - - Disease - - - - - - - - 803 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=803 - Amyotrophic lateral sclerosis - - Disease - - - - - - - - 276058 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276058 - Genetic neurodegenerative disease with dementia - - Category - - - - - - 54247 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=54247 - Posterior cortical atrophy - - Disease - - - - - - - - 385 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=385 - Neurodegeneration with brain iron accumulation - - Clinical group - - - - - - 3464 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3464 - Woodhouse-Sakati syndrome - - Disease - - - - - - - - 48818 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=48818 - Aceruloplasminemia - - Disease - - - - - - - - 157846 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157846 - Neuroferritinopathy - - Disease - - - - - - - - 157850 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157850 - Pantothenate kinase-associated neurodegeneration - - Disease - - - - - - 216866 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216866 - Classic pantothenate kinase-associated neurodegeneration - - Clinical subtype - - - - - - - - 216873 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216873 - Atypical pantothenate kinase-associated neurodegeneration - - Clinical subtype - - - - - - - - - - 289560 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289560 - Mitochondrial membrane protein-associated neurodegeneration - - Disease - - - - - - - - 306674 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306674 - Kufor-Rakeb syndrome - - Disease - - - - - - - - 329284 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329284 - Beta-propeller protein-associated neurodegeneration - - Disease - - - - - - - - 329303 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329303 - PLA2G6-associated neurodegeneration - - Clinical group - - - - - - 35069 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35069 - Infantile neuroaxonal dystrophy - - Disease - - - - - - - - 199351 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199351 - Adult-onset dystonia-parkinsonism - - Disease - - - - - - - - - - 329308 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329308 - Fatty acid hydroxylase-associated neurodegeneration - - Disease - - - - - - - - 397725 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397725 - COASY protein-associated neurodegeneration - - Disease - - - - - - - - 496756 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=496756 - Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome - - Disease - - - - - - - - - - 399 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399 - Huntington disease - - Disease - - - - - - - - 1020 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1020 - Early-onset autosomal dominant Alzheimer disease - - Disease - - - - - - - - 98538 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98538 - Ataxia with dementia - - Category - - - - - - 98539 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98539 - Early-onset ataxia with dementia - - Category - - - - - - 1172 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1172 - Autosomal recessive cerebellar ataxia - - Clinical group - - - - - - 88644 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88644 - Autosomal recessive ataxia, Beauce type - - Disease - - - - - - - - 98095 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98095 - Autosomal recessive congenital cerebellar ataxia - - Category - - - - - - 1170 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1170 - Autosomal recessive cerebelloparenchymal disorder type 3 - - Disease - - - - - - - - 1766 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1766 - Dysequilibrium syndrome - - Disease - - - - - - - - 83472 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83472 - CAMOS syndrome - - Malformation syndrome - - - - - - - - 94122 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94122 - Cerebellar ataxia, Cayman type - - Disease - - - - - - - - 140874 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140874 - Joubert syndrome and related disorders - - Category - - - - - - 2318 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2318 - Joubert syndrome with oculorenal defect - - Malformation syndrome - - - - - - - - 475 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=475 - Isolated Joubert syndrome - - Malformation syndrome - - - - - - - - 1454 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1454 - Joubert syndrome with hepatic defect - - Disease - - - - - - - - 2754 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2754 - Orofaciodigital syndrome type 6 - - Malformation syndrome - - - - - - - - 220493 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220493 - Joubert syndrome with ocular defect - - Malformation syndrome - - - - - - - - 220497 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220497 - Joubert syndrome with renal defect - - Malformation syndrome - - - - - - - - 397715 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397715 - Joubert syndrome with Jeune asphyxiating thoracic dystrophy - - Malformation syndrome - - - - - - - - - - 453521 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=453521 - Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency - - Disease - - - - - - - - 512260 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=512260 - Congenital cerebellar ataxia due to RNU12 mutation - - Disease - - - - - - - - - - 98096 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98096 - Autosomal recessive metabolic cerebellar ataxia - - Category - - - - - - 642965 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642965 - Autosomal recessive ataxia due to PEX2 deficiency - - Disease - - - - - - - - 96 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96 - Ataxia with vitamin E deficiency - - Disease - - - - - - - - 14 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=14 - Abetalipoproteinemia - - Disease - - - - - - - - 773 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=773 - Refsum disease - - Disease - - - - - - - - 909 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=909 - Cerebrotendinous xanthomatosis - - Disease - - - - - - - - 772 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=772 - Infantile Refsum disease - - Disease - - - - - - - - 94125 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94125 - Recessive mitochondrial ataxia syndrome - - Disease - - - - - - - - 247815 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247815 - Autosomal recessive ataxia due to PEX10 deficiency - - Disease - - - - - - - - 352641 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352641 - Autosomal recessive cerebellar ataxia with late-onset spasticity - - Disease - - - - - - - - 363429 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363429 - Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome - - Disease - - - - - - 324262 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324262 - Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency - - Clinical subtype - - - - - - - - 363432 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363432 - Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency - - Clinical subtype - - - - - - - - - - 95433 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95433 - Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome - - Disease - - - - - - - - 642954 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642954 - Autosomal recessive ataxia due to PEX16 deficiency - - Disease - - - - - - - - - - 98097 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98097 - Autosomal recessive cerebellar ataxia due to a DNA repair defect - - Category - - - - - - 100 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100 - Ataxia-telangiectasia - - Disease - - - - - - - - 1168 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1168 - Ataxia-oculomotor apraxia type 1 - - Disease - - - - - - - - 64753 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64753 - Spinocerebellar ataxia with axonal neuropathy type 2 - - Disease - - - - - - - - 94124 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94124 - Spinocerebellar ataxia with axonal neuropathy type 1 - - Disease - - - - - - - - 220295 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220295 - Xeroderma pigmentosum-Cockayne syndrome complex - - Disease - - - - - - - - 251347 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251347 - Ataxia-telangiectasia-like disorder - - Disease - - - - - - - - 910 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=910 - Xeroderma pigmentosum - - Disease - - - - - - - - 420741 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420741 - RIDDLE syndrome - - Malformation syndrome - - - - - - - - - - 98098 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98098 - Autosomal recessive degenerative and progressive cerebellar ataxia - - Category - - - - - - 95 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95 - Friedreich ataxia - - Disease - - - - - - - - 1177 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1177 - Early-onset cerebellar ataxia with retained tendon reflexes - - Disease - - - - - - - - 1186 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1186 - Infantile-onset spinocerebellar ataxia - - Disease - - - - - - - - 559 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=559 - Marinesco-Sjögren syndrome - - Disease - - - - - - - - 48431 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=48431 - Congenital cataracts-facial dysmorphism-neuropathy syndrome - - Malformation syndrome - - - - - - - - 88628 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88628 - Posterior column ataxia-retinitis pigmentosa syndrome - - Disease - - - - - - - - 694922 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=694922 - Childhood-onset stress-induced neurodegenerative ataxia-seizure syndrome - - Disease - - - - - - - - 496756 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=496756 - Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome - - Disease - - - - - - - - - - 98099 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98099 - Autosomal recessive syndromic cerebellar ataxia - - Category - - - - - - 459033 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=459033 - Ataxia-oculomotor apraxia type 4 - - Disease - - - - - - - - 95434 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95434 - Autosomal recessive cerebellar ataxia-movement disorder syndrome - - Disease - - - - - - - - 284271 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284271 - Autosomal recessive cerebellar ataxia-psychomotor delay syndrome - - Disease - - - - - - - - 2074 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2074 - Gemignani syndrome - - Malformation syndrome - - - - - - - - 504476 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=504476 - Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome - - Disease - - - - - - - - 466794 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466794 - Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome - - Disease - - - - - - - - - - 139485 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139485 - Autosomal recessive ataxia due to ubiquinone deficiency - - Disease - - - - - - - - 284289 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284289 - Adult-onset autosomal recessive cerebellar ataxia - - Disease - - - - - - - - 284324 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284324 - Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia - - Disease - - - - - - - - 284332 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284332 - Infantile-onset autosomal recessive nonprogressive cerebellar ataxia - - Disease - - - - - - - - 352403 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352403 - Spectrin-associated autosomal recessive cerebellar ataxia - - Disease - - - - - - - - 404481 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404481 - Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome - - Clinical group - - - - - - 284282 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284282 - Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency - - Disease - - - - - - - - 404493 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404493 - Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency - - Disease - - - - - - - - 404499 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404499 - Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency - - Disease - - - - - - - - - - 412057 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=412057 - Autosomal recessive cerebellar ataxia due to STUB1 deficiency - - Disease - - - - - - - - - - - - 98540 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98540 - Late-onset ataxia with dementia - - Category - - - - - - 99 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99 - Autosomal dominant cerebellar ataxia - - Category - - - - - - 94145 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94145 - Autosomal dominant cerebellar ataxia type I - - Clinical group - - - - - - 98772 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98772 - Spinocerebellar ataxia type 19/22 - - Disease - - - - - - - - 98773 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98773 - Spinocerebellar ataxia type 21 - - Disease - - - - - - - - 101108 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101108 - Spinocerebellar ataxia type 23 - - Disease - - - - - - - - 101109 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101109 - Spinocerebellar ataxia type 28 - - Disease - - - - - - - - 101110 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101110 - Spinocerebellar ataxia type 20 - - Disease - - - - - - - - 101111 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101111 - Spinocerebellar ataxia type 25 - - Disease - - - - - - - - 208513 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=208513 - Spinocerebellar ataxia type 29 - - Disease - - - - - - - - 276183 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276183 - Spinocerebellar ataxia type 32 - - Disease - - - - - - - - 276193 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276193 - Spinocerebellar ataxia type 35 - - Disease - - - - - - - - 276198 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276198 - Spinocerebellar ataxia type 36 - - Disease - - - - - - - - 314404 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314404 - Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome - - Disease - - - - - - - - 314647 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314647 - Non-progressive cerebellar ataxia with intellectual disability - - Disease - - - - - - - - 363710 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363710 - Spinocerebellar ataxia type 37 - - Disease - - - - - - - - 423275 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423275 - Spinocerebellar ataxia type 40 - - Disease - - - - - - - - 1955 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1955 - Spinocerebellar ataxia type 34 - - Disease - - - - - - - - 1171 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1171 - Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome - - Disease - - - - - - - - 98755 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98755 - Spinocerebellar ataxia type 1 - - Disease - - - - - - - - 98756 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98756 - Spinocerebellar ataxia type 2 - - Disease - - - - - - - - 98757 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98757 - Spinocerebellar ataxia type 3 - - Disease - - - - - - 276238 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276238 - Machado-Joseph disease type 1 - - Clinical subtype - - - - - - - - 276241 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276241 - Machado-Joseph disease type 2 - - Clinical subtype - - - - - - - - 276244 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276244 - Machado-Joseph disease type 3 - - Clinical subtype - - - - - - - - - - 98759 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98759 - Spinocerebellar ataxia type 17 - - Disease - - - - - - - - 98760 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98760 - Spinocerebellar ataxia type 8 - - Disease - - - - - - - - 98762 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98762 - Spinocerebellar ataxia type 12 - - Disease - - - - - - - - 98763 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98763 - Spinocerebellar ataxia type 14 - - Disease - - - - - - - - 98764 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98764 - Spinocerebellar ataxia type 27A - - Disease - - - - - - - - 98765 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98765 - Spinocerebellar ataxia type 4 - - Disease - - - - - - - - 98768 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98768 - Spinocerebellar ataxia type 13 - - Disease - - - - - - - - 98769 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98769 - Spinocerebellar ataxia type 15/16 - - Disease - - - - - - - - 98771 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98771 - Spinocerebellar ataxia type 18 - - Disease - - - - - - - - 497764 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=497764 - Spinocerebellar ataxia type 43 - - Disease - - - - - - - - 589515 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589515 - PUM1-associated developmental disability-ataxia-seizure syndrome - - Disease - - - - - - - - 589522 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589522 - Spinocerebellar ataxia type 46 - - Disease - - - - - - - - 631103 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=631103 - Spinocerebellar ataxia type 48 - - Disease - - - - - - - - 675216 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=675216 - Spinocerebellar ataxia type 27B - - Disease - - - - - - - - 631106 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=631106 - Spinocerebellar ataxia type 49 - - Disease - - - - - - - - - - 94148 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94148 - Autosomal dominant cerebellar ataxia type III - - Clinical group - - - - - - 589527 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589527 - Spinocerebellar ataxia type 45 - - Disease - - - - - - - - 631095 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=631095 - Spinocerebellar ataxia type 44 - - Disease - - - - - - - - 98758 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98758 - Spinocerebellar ataxia type 6 - - Disease - - - - - - - - 98766 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98766 - Spinocerebellar ataxia type 5 - - Disease - - - - - - - - 98767 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98767 - Spinocerebellar ataxia type 11 - - Disease - - - - - - - - 101112 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101112 - Spinocerebellar ataxia type 26 - - Disease - - - - - - - - 211017 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=211017 - Spinocerebellar ataxia type 30 - - Disease - - - - - - - - 217012 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217012 - Spinocerebellar ataxia type 31 - - Disease - - - - - - - - 423296 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423296 - Spinocerebellar ataxia type 38 - - Disease - - - - - - - - 458798 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=458798 - Spinocerebellar ataxia type 41 - - Disease - - - - - - - - 458803 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=458803 - Spinocerebellar ataxia type 42 - - Disease - - - - - - - - - - 94149 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94149 - Autosomal dominant cerebellar ataxia type IV - - Clinical group - - - - - - 101 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101 - Dentatorubral pallidoluysian atrophy - - Disease - - - - - - - - 98761 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98761 - Spinocerebellar ataxia type 10 - - Disease - - - - - - - - - - 208508 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=208508 - Autosomal dominant cerebellar ataxia type II - - Clinical group - - - - - - 94147 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94147 - Spinocerebellar ataxia type 7 - - Disease - - - - - - - - - - 642747 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642747 - PUM1-related cerebellar ataxia - - Disease - - - - - - - - - - - - - - 248111 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=248111 - Juvenile Huntington disease - - Disease - - - - - - - - 276061 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276061 - Genetic frontotemporal degeneration with dementia - - Category - - - - - - 52430 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52430 - Inclusion body myopathy with Paget disease of bone and frontotemporal dementia - - Disease - - - - - - - - 683 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=683 - Progressive supranuclear palsy - - Disease - - - - - - 99750 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99750 - Atypical progressive supranuclear palsy syndrome - - Clinical subtype - - - - - - 240085 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=240085 - Progressive supranuclear palsy-predominant parkinsonism syndrome - - Clinical subtype - - - - - - - - 240094 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=240094 - Progressive supranuclear palsy-pure akinesia with gait freezing syndrome - - Clinical subtype - - - - - - - - 240103 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=240103 - Progressive supranuclear palsy-corticobasal syndrome - - Clinical subtype - - - - - - - - 240112 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=240112 - Progressive supranuclear palsy-progressive non-fluent aphasia syndrome - - Clinical subtype - - - - - - - - - - 240071 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=240071 - Classic progressive supranuclear palsy syndrome - - Clinical subtype - - - - - - - - - - 282 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=282 - Frontotemporal dementia - - Clinical group - - - - - - 100069 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100069 - Semantic dementia - - Disease - - - - - - - - 100070 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100070 - Progressive non-fluent aphasia - - Disease - - - - - - - - 275864 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275864 - Behavioral variant of frontotemporal dementia - - Disease - - - - - - - - - - 275872 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275872 - Frontotemporal dementia with motor neuron disease - - Disease - - - - - - - - - - 401901 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401901 - Huntington disease-like syndrome due to C9ORF72 expansions - - Disease - - - - - - - - 412066 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=412066 - PRKAR1B-related neurodegenerative dementia with intermediate filaments - - Disease - - - - - - - - 439254 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439254 - ITM2B amyloidosis - - Disease - - - - - - 97345 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97345 - ABri amyloidosis - - Clinical subtype - - - - - - - - 97346 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97346 - ADan amyloidosis - - Clinical subtype - - - - - - - - - - 411602 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411602 - Hereditary late-onset Parkinson disease - - Disease - - - - - - - - 2770 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2770 - Nasu-Hakola disease - - Malformation syndrome - - - - - - - - 2289 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2289 - Neuronal intranuclear inclusion disease - - Disease - - - - - - - - 456318 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=456318 - Hereditary sensory neuropathy-deafness-dementia syndrome - - Disease - - - - - - - - 280400 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280400 - Inherited human prion disease - - Category - - - - - - 466 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466 - Fatal familial insomnia - - Disease - - - - - - - - 157941 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157941 - Huntington disease-like 1 - - Disease - - - - - - - - 282166 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=282166 - Inherited Creutzfeldt-Jakob disease - - Disease - - - - - - - - 356 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=356 - Gerstmann-Straussler-Scheinker syndrome - - Disease - - - - - - - - 280397 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280397 - Familial Alzheimer-like prion disease - - Disease - - - - - - - - 397606 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397606 - PrP systemic amyloidosis - - Disease - - - - - - - - - - 313808 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313808 - Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia - - Disease - - - - - - - - 263440 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263440 - Neuroacanthocytosis - - Clinical group - - - - - - 2388 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2388 - Choreoacanthocytosis - - Disease - - - - - - - - 59306 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=59306 - McLeod neuroacanthocytosis syndrome - - Disease - - - - - - - - 98934 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98934 - Huntington disease-like 2 - - Disease - - - - - - - - 157850 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157850 - Pantothenate kinase-associated neurodegeneration - - Disease - - - - - - 216866 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216866 - Classic pantothenate kinase-associated neurodegeneration - - Clinical subtype - - - - - - - - 216873 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216873 - Atypical pantothenate kinase-associated neurodegeneration - - Clinical subtype - - - - - - - - - - - - - - 309152 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309152 - GM2 gangliosidosis - - Clinical group - - - - - - 796 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=796 - Sandhoff disease - - Disease - - - - - - 309155 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309155 - Sandhoff disease, infantile form - - Clinical subtype - - - - - - - - 309162 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309162 - Sandhoff disease, juvenile form - - Clinical subtype - - - - - - - - 309169 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309169 - Sandhoff disease, adult form - - Clinical subtype - - - - - - - - - - 845 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=845 - Tay-Sachs disease - - Disease - - - - - - 309178 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309178 - Tay-Sachs disease, infantile form - - Clinical subtype - - - - - - - - 309185 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309185 - Tay-Sachs disease, juvenile form - - Clinical subtype - - - - - - - - 309192 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309192 - Tay-Sachs disease, adult form - - Clinical subtype - - - - - - - - - - 309246 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309246 - GM2 gangliosidosis, AB variant - - Disease - - - - - - - - - - 313850 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313850 - Infantile cerebellar-retinal degeneration - - Disease - - - - - - - - 352654 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352654 - Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome - - Disease - - - - - - - - 352723 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352723 - Attenuated Chédiak-Higashi syndrome - - Disease - - - - - - - - 357043 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357043 - Amyotrophic lateral sclerosis type 4 - - Disease - - - - - - - - 363400 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363400 - Progressive encephalopathy-severe neurodegeneration-lipodystrophy syndrome - - Disease - - - - - - - - 363969 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363969 - Autosomal recessive cerebral atrophy - - Disease - - - - - - - - 371364 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=371364 - Hypotonia-speech impairment-severe cognitive delay syndrome - - Disease - - - - - - 700333 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700333 - Hypotonia-speech impairment-severe cognitive delay syndrome due to UNC80 deficiency - - Clinical subtype - - - - - - - - 700336 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700336 - Hypotonia-speech impairment-severe cognitive delay syndrome due to NALCN deficiency - - Clinical subtype - - - - - - - - - - 391343 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391343 - Fatal post-viral neurodegenerative disorder - - Disease - - - - - - - - 397922 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397922 - Ferro-cerebro-cutaneous syndrome - - Disease - - - - - - - - 438134 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=438134 - PCNA-related progressive neurodegenerative photosensitivity syndrome - - Disease - - - - - - - - 1576 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1576 - Infantile bilateral striatal necrosis - - Clinical group - - - - - - 225147 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=225147 - Sporadic infantile bilateral striatal necrosis - - Disease - - - - - - - - 225154 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=225154 - Familial infantile bilateral striatal necrosis - - Disease - - - - - - - - - - 610573 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=610573 - CLCN6-related childhood-onset progressive neurodegeneration-peripheral neuropathy syndrome - - Disease - - - - - - - - 569274 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=569274 - Multiple mitochondrial dysfunctions syndrome type 5 - - Disease - - - - - - - - 569290 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=569290 - Multiple mitochondrial dysfunctions syndrome type 6 - - Disease - - - - - - - - 621758 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=621758 - Fibrosis-neurodegeneration-cerebral angiomatosis syndrome - - Disease - - - - - - - - 457406 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457406 - Multiple mitochondrial dysfunctions syndrome type 4 - - Disease - - - - - - - - 457205 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457205 - Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome - - Disease - - - - - - - - 457375 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457375 - ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement - - Disease - - - - - - - - 497906 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=497906 - Childhood-onset basal ganglia degeneration syndrome - - Disease - - - - - - - - 556985 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=556985 - Early-onset calcifying leukoencephalopathy-skeletal dysplasia - - Disease - - - - - - - - 508093 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508093 - MEPAN syndrome - - Malformation syndrome - - - - - - - - 555402 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=555402 - NAD(P)HX dehydratase deficiency - - Disease - - - - - - - - 555407 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=555407 - NAD(P)HX epimerase deficiency - - Disease - - - - - - - - 505242 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=505242 - Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome - - Disease - - - - - - - - 401768 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401768 - Proximal myopathy with extrapyramidal signs - - Disease - - - - - - - - 500180 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500180 - Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder - - Disease - - - - - - - - 496641 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=496641 - Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome - - Malformation syndrome - - - - - - - - 480864 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480864 - Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome - - Disease - - - - - - - - - - 183503 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183503 - Genetic central nervous system and retinal vascular disease - - Category - - - - - - 892 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=892 - Von Hippel-Lindau disease - - Disease - - - - - - - - 569 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=569 - Familial or sporadic hemiplegic migraine - - Disease - - - - - - - - 891 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=891 - Familial exudative vitreoretinopathy - - Disease - - - - - - - - 477771 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477771 - Rare disorder with a moyamoya angiopathy - - Category - - - - - - 401945 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401945 - Moyamoya disease with early-onset achalasia - - Disease - - - - - - - - 481662 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=481662 - Familial Chilblain lupus - - Disease - - - - - - - - 2637 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2637 - Microcephalic osteodysplastic primordial dwarfism type II - - Malformation syndrome - - - - - - - - 232 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=232 - Sickle cell anemia - - Disease - - - - - - - - 51 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=51 - Aicardi-Goutières syndrome - - Disease - - - - - - - - 881 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=881 - Turner syndrome - - Malformation syndrome - - - - - - 99226 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99226 - Monosomy X syndrome - - Etiological subtype - - - - - - - - 99228 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99228 - Mosaic monosomy X syndrome - - Etiological subtype - - - - - - - - 99413 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99413 - Turner syndrome due to structural X chromosome anomalies - - Etiological subtype - - - - - - - - - - 363972 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363972 - Noonan syndrome-like disorder with juvenile myelomonocytic leukemia - - Malformation syndrome - - - - - - - - 280679 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280679 - Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome - - Disease - - - - - - - - 42775 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=42775 - PHACE syndrome - - Malformation syndrome - - - - - - - - 648 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=648 - Noonan syndrome - - Malformation syndrome - - - - - - - - 636 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=636 - Neurofibromatosis type 1 - - Disease - - - - - - 97685 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97685 - 17q11 microdeletion syndrome - - Clinical subtype - - - - - - - - 363700 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363700 - Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion - - Etiological subtype - - - - - - - - - - 3071 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3071 - Costello syndrome - - Malformation syndrome - - - - - - - - 870 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=870 - Down syndrome - - Malformation syndrome - - - - - - - - - - 477754 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477754 - Genetic cerebral small vessel disease - - Category - - - - - - 136 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=136 - Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy - - Disease - - - - - - - - 247691 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247691 - Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations - - Disease - - - - - - - - 621758 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=621758 - Fibrosis-neurodegeneration-cerebral angiomatosis syndrome - - Disease - - - - - - - - 313838 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313838 - Coats plus syndrome - - Disease - - - - - - - - 542310 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=542310 - Leukoencephalopathy with calcifications and cysts - - Disease - - - - - - - - 477759 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477759 - COL4A1 or COL4A2-related cerebral small vessel disease - - Category - - - - - - 477765 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477765 - COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendency - - Clinical group - - - - - - 36383 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36383 - COL4A1/2-related familial vascular leukoencephalopathy - - Disease - - - - - - - - 73229 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73229 - HANAC syndrome - - Disease - - - - - - - - 75326 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75326 - Familial isolated retinal arteriolar tortuosity - - Disease - - - - - - - - 99810 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99810 - Familial porencephaly - - Etiological subtype - - - - - - - - 481986 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=481986 - Familial schizencephaly - - Etiological subtype - - - - - - - - - - 477762 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477762 - COL4A1 or COL4A2-related cerebral small vessel disease with ischemic tendency - - Clinical group - - - - - - 477749 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477749 - Pontine autosomal dominant microangiopathy with leukoencephalopathy - - Disease - - - - - - - - - - - - 314572 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314572 - Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome - - Disease - - - - - - - - 85458 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85458 - Cerebral Amyloid Angiopathy - - Disease - - - - - - 100006 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100006 - ABeta amyloidosis, Dutch type - - Clinical subtype - - - - - - - - 100008 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100008 - ACys amyloidosis - - Clinical subtype - - - - - - - - 324703 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324703 - ABetaL34V amyloidosis - - Clinical subtype - - - - - - - - 324708 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324708 - ABeta amyloidosis, Iowa type - - Clinical subtype - - - - - - - - 324713 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324713 - ABeta amyloidosis, Italian type - - Clinical subtype - - - - - - - - 324718 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324718 - ABetaA21G amyloidosis - - Clinical subtype - - - - - - - - 324723 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324723 - ABeta amyloidosis, Arctic type - - Clinical subtype - - - - - - - - - - 575553 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=575553 - Cathepsin A-related arteriopathy-strokes-leukoencephalopathy - - Disease - - - - - - - - 482072 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=482072 - HTRA1-related cerebral small vessel disease - - Clinical group - - - - - - 199354 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199354 - Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy - - Disease - - - - - - - - 482077 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=482077 - HTRA1-related autosomal dominant cerebral small vessel disease - - Disease - - - - - - - - - - - - 758 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=758 - Pseudoxanthoma elasticum - - Disease - - - - - - - - 689001 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=689001 - Isolated spontaneous cervical artery dissection - - Disease - - - - - - - - 140989 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140989 - Primary angiitis of the central nervous system - - Disease - - - - - - - - 371436 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=371436 - Genetic neurovascular malformation - - Category - - - - - - 231160 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231160 - Familial cerebral saccular aneurysm - - Disease - - - - - - - - 521445 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521445 - Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome - - Malformation syndrome - - - - - - - - 774 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=774 - Hereditary hemorrhagic telangiectasia - - Disease - - - - - - - - 1062 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1062 - Hereditary neurocutaneous malformation - - Disease - - - - - - - - 42775 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=42775 - PHACE syndrome - - Malformation syndrome - - - - - - - - 46724 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=46724 - Cerebral arteriovenous malformation - - Morphological anomaly - - - - - - - - 71213 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71213 - Retinal capillary malformation - - Disease - - - - - - - - 83454 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83454 - Glomuvenous malformation - - Malformation syndrome - - - - - - - - 221061 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221061 - Familial cerebral cavernous malformation - - Malformation syndrome - - - - - - - - 1053 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1053 - Vein of Galen aneurysmal malformation - - Morphological anomaly - - - - - - - - - - 404463 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404463 - Multisystemic smooth muscle dysfunction syndrome - - Disease - - - - - - - - 190 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=190 - Coats disease - - Disease - - - - - - - - 284247 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284247 - Familial retinal arterial macroaneurysm - - Malformation syndrome - - - - - - - - - - 183506 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183506 - Genetic central nervous system malformation - - Category - - - - - - 269550 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269550 - Genetic non-syndromic central nervous system malformation - - Category - - - - - - 2185 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2185 - Congenital hydrocephalus - - Malformation syndrome - - - - - - 269505 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269505 - Congenital communicating hydrocephalus - - Clinical subtype - - - - - - - - 269510 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269510 - Congenital non-communicating hydrocephalus - - Clinical subtype - - - - - - - - - - 3388 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3388 - Neural tube defect - - Category - - - - - - 268357 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268357 - Neural tube closure defect - - Category - - - - - - 823 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=823 - Spina bifida and other spinal dysraphisms - - Category - - - - - - 268369 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268369 - Open spinal dysraphism - - Clinical group - - - - - - 645270 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645270 - Open spinal dysraphism with a posterior meningocele - - Clinical group - - - - - - 645378 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645378 - Myelic limited dorsal malformation - - Morphological anomaly - - - - - - - - 93969 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93969 - Open spinal dysraphism with a myelomeningocele - - Morphological anomaly - - - - - - 645383 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645383 - True myelomeningocele - - Clinical subtype - - - - - - - - 645388 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645388 - Hemi-myelomeningocele - - Clinical subtype - - - - - - - - - - - - 645398 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645398 - Myeloschisis - - Morphological anomaly - - - - - - 645401 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645401 - True myeloschisis - - Clinical subtype - - - - - - - - 645393 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645393 - Hemi-myeloschisis - - Clinical subtype - - - - - - - - - - - - 268744 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268744 - Spinal dysraphism with a posterior meningocele - - Clinical group - - - - - - 268810 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268810 - Isolated posterior meningocele - - Morphological anomaly - - - - - - - - 268813 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268813 - Myelocystocele - - Clinical group - - - - - - 645337 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645337 - Terminal myelocystocele - - Morphological anomaly - - - - - - - - 645340 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645340 - Non-terminal myelocystocele - - Morphological anomaly - - - - - - - - - - 645319 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645319 - Saccular spinal dysraphism with a stalk to the dome - - Clinical group - - - - - - 645354 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645354 - Saccular limited dorsal myeloschisis - - Morphological anomaly - - - - - - - - 645378 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645378 - Myelic limited dorsal malformation - - Morphological anomaly - - - - - - - - 645337 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645337 - Terminal myelocystocele - - Morphological anomaly - - - - - - - - - - 645270 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645270 - Open spinal dysraphism with a posterior meningocele - - Clinical group - - - - - - 645378 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645378 - Myelic limited dorsal malformation - - Morphological anomaly - - - - - - - - 93969 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93969 - Open spinal dysraphism with a myelomeningocele - - Morphological anomaly - - - - - - 645383 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645383 - True myelomeningocele - - Clinical subtype - - - - - - - - 645388 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645388 - Hemi-myelomeningocele - - Clinical subtype - - - - - - - - - - - - - - 645202 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645202 - Closed spinal dysraphism - - Clinical group - - - - - - 573278 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=573278 - Split cord malformation - - Clinical group - - - - - - 1671 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1671 - Split cord malformation type I - - Morphological anomaly - - - - - - - - 573253 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=573253 - Split cord malformation type II - - Morphological anomaly - - - - - - - - 633076 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=633076 - Split cord malformation, composite type - - Morphological anomaly - - - - - - - - - - 268810 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268810 - Isolated posterior meningocele - - Morphological anomaly - - - - - - - - 268813 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268813 - Myelocystocele - - Clinical group - - - - - - 645337 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645337 - Terminal myelocystocele - - Morphological anomaly - - - - - - - - 645340 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645340 - Non-terminal myelocystocele - - Morphological anomaly - - - - - - - - - - 656126 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=656126 - Segmental spinal dysgenesis - - Disease - - - - - - - - 645273 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645273 - Dysraphic spinal cord lipoma - - Clinical group - - - - - - 645362 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645362 - Dorsal spinal cord lipoma - - Morphological anomaly - - - - - - - - 645367 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645367 - Conus spinal cord lipoma - - Clinical group - - - - - - 645285 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645285 - Chaotic conus spinal cord lipoma - - Morphological anomaly - - - - - - - - 645297 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645297 - Extramedullary conus spinal cord lipoma - - Morphological anomaly - - - - - - 645291 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645291 - Transitional extramedullary conus spinal cord lipoma - - Clinical subtype - - - - - - - - 645288 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645288 - Terminal extramedullary conus spinal cord lipoma - - Clinical subtype - - - - - - - - 645294 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645294 - Posterior extramedullary conus spinal cord lipoma - - Clinical subtype - - - - - - - - - - - - - - 3027 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3027 - Caudal regression syndrome - - Malformation syndrome - - - - - - - - 645193 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645193 - Dysraphism with stalk - - Clinical group - - - - - - 645334 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645334 - Retained medullary cord - - Morphological anomaly - - - - - - - - 645188 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645188 - Spinal dermal sinus - - Morphological anomaly - - - - - - - - 645196 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645196 - Limited dorsal myeloschisis - - Clinical group - - - - - - 645343 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645343 - Non-saccular limited dorsal myeloschisis - - Morphological anomaly - - - - - - 645310 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645310 - Fibroneural non-saccular limited dorsal myeloschisis - - Histopathological subtype - - - - - - - - 645300 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645300 - Lipomatous non-saccular limited dorsal myeloschisis - - Histopathological subtype - - - - - - - - - - 645319 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645319 - Saccular spinal dysraphism with a stalk to the dome - - Clinical group - - - - - - 645354 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645354 - Saccular limited dorsal myeloschisis - - Morphological anomaly - - - - - - - - 645378 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645378 - Myelic limited dorsal malformation - - Morphological anomaly - - - - - - - - 645337 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645337 - Terminal myelocystocele - - Morphological anomaly - - - - - - - - - - - - - - - - - - 645282 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645282 - Anomaly of the filum - - Clinical group - - - - - - 645279 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645279 - Fibrolipomatous filum anomaly - - Clinical group - - - - - - 645325 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645325 - Isolated filum lipoma - - Morphological anomaly - - - - - - - - 645322 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645322 - Isolated transitional filum lipoma - - Morphological anomaly - - - - - - - - - - 645334 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645334 - Retained medullary cord - - Morphological anomaly - - - - - - - - - - 645276 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645276 - Spinal cord lipoma - - Clinical group - - - - - - 645359 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645359 - Intramedullary non-dysraphic spinal cord lipoma - - Morphological anomaly - - - - - - - - 645273 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645273 - Dysraphic spinal cord lipoma - - Clinical group - - - - - - 645362 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645362 - Dorsal spinal cord lipoma - - Morphological anomaly - - - - - - - - 645367 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645367 - Conus spinal cord lipoma - - Clinical group - - - - - - 645285 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645285 - Chaotic conus spinal cord lipoma - - Morphological anomaly - - - - - - - - 645297 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645297 - Extramedullary conus spinal cord lipoma - - Morphological anomaly - - - - - - 645291 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645291 - Transitional extramedullary conus spinal cord lipoma - - Clinical subtype - - - - - - - - 645288 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645288 - Terminal extramedullary conus spinal cord lipoma - - Clinical subtype - - - - - - - - 645294 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645294 - Posterior extramedullary conus spinal cord lipoma - - Clinical subtype - - - - - - - - - - - - - - - - - - 268843 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268843 - Malformation of the neurenteric canal, spinal cord and column - - Category - - - - - - 63260 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=63260 - Craniorachischisis - - Morphological anomaly - - - - - - - - 1048 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1048 - Isolated anencephaly/exencephaly - - Morphological anomaly - - - - - - 563609 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=563609 - Isolated anencephaly - - Clinical subtype - - - - - - - - 563612 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=563612 - Isolated exencephaly - - Clinical subtype - - - - - - - - - - 63259 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=63259 - Iniencephaly - - Morphological anomaly - - - - - - 268363 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268363 - Open iniencephaly - - Clinical subtype - - - - - - - - 268366 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268366 - Closed iniencephaly - - Clinical subtype - - - - - - - - - - 268817 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268817 - Cephalocele - - Clinical group - - - - - - 199647 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199647 - Isolated encephalocele - - Morphological anomaly - - - - - - 268826 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268826 - Parietal encephalocele - - Clinical subtype - - - - - - - - 268829 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268829 - Basal encephalocele - - Clinical subtype - - - - - - - - 1931 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1931 - Frontal encephalocele - - Clinical subtype - - - - - - - - 141118 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141118 - Nasal encephalocele - - Clinical subtype - - - - - - - - 268823 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268823 - Occipital encephalocele - - Clinical subtype - - - - - - - - - - 268820 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268820 - Cranial meningocele - - Morphological anomaly - - - - - - - - - - 656126 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=656126 - Segmental spinal dysgenesis - - Disease - - - - - - - - 3027 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3027 - Caudal regression syndrome - - Malformation syndrome - - - - - - - - 2789 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2789 - Lateral meningocele syndrome - - Malformation syndrome - - - - - - - - 99856 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99856 - Primary syringomyelia - - Morphological anomaly - - - - - - 99858 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99858 - Idiopathic syringomyelia - - Clinical subtype - - - - - - - - 370034 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370034 - Familial syringomyelia - - Clinical subtype - - - - - - - - - - 268861 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268861 - Primary tethered cord syndrome - - Morphological anomaly - - - - - - - - 268865 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268865 - Neurenteric cyst - - Morphological anomaly - - - - - - - - 268868 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268868 - Isolated amyelia - - Morphological anomaly - - - - - - - - 268882 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268882 - Arnold-Chiari malformation type I - - Morphological anomaly - - - - - - - - 397927 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397927 - Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome - - Malformation syndrome - - - - - - - - - - - - 2356 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2356 - Arachnoid cyst - - Morphological anomaly - - - - - - - - 98518 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98518 - Cranial nerve and nuclear aplasia - - Category - - - - - - 570 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=570 - Moebius syndrome - - Disease - - - - - - - - 233 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=233 - Duane retraction syndrome - - Malformation syndrome - - - - - - - - 306527 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306527 - Isolated hereditary congenital facial paralysis - - Morphological anomaly - - - - - - - - 306530 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306530 - Congenital hereditary facial paralysis-variable hearing loss syndrome - - Morphological anomaly - - - - - - - - 324353 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324353 - Congenital achiasma - - Morphological anomaly - - - - - - - - - - 269553 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269553 - Genetic cerebral malformation - - Category - - - - - - 268926 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268926 - Midline cerebral malformation - - Category - - - - - - 2162 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2162 - Holoprosencephaly - - Malformation syndrome - - - - - - 93924 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93924 - Lobar holoprosencephaly - - Clinical subtype - - - - - - - - 93925 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93925 - Alobar holoprosencephaly - - Clinical subtype - - - - - - - - 93926 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93926 - Midline interhemispheric variant of holoprosencephaly - - Clinical subtype - - - - - - - - 220386 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220386 - Semilobar holoprosencephaly - - Clinical subtype - - - - - - - - 280195 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280195 - Septopreoptic holoprosencephaly - - Clinical subtype - - - - - - - - - - 1126 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1126 - Aprosencephaly cerebellar dysgenesis - - Malformation syndrome - - - - - - - - 314621 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314621 - Duplication of the pituitary gland - - Morphological anomaly - - - - - - - - 280200 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280200 - Microform holoprosencephaly - - Malformation syndrome - - - - - - - - - - 269190 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269190 - Encephaloclastic disorder - - Clinical group - - - - - - 799 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=799 - Schizencephaly - - Disease - - - - - - 481986 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=481986 - Familial schizencephaly - - Etiological subtype - - - - - - - - 485275 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=485275 - Acquired schizencephaly - - Etiological subtype - - - - - - - - - - 2177 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2177 - Hydranencephaly - - Malformation syndrome - - - - - - - - 2940 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2940 - Porencephaly - - Disease - - - - - - 99810 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99810 - Familial porencephaly - - Etiological subtype - - - - - - - - 314697 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314697 - Acquired porencephaly - - Etiological subtype - - - - - - - - - - - - 319192 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319192 - Diencephalic-mesencephalic junction dysplasia - - Morphological anomaly - - - - - - - - 163209 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163209 - Non-syndromic cerebral malformation due to abnormal neuronal migration - - Category - - - - - - 2149 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2149 - Nodular neuronal heterotopia - - Morphological anomaly - - - - - - 98892 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98892 - Periventricular nodular heterotopia - - Clinical subtype - - - - - - - - 101029 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101029 - Sub-cortical nodular heterotopia - - Clinical subtype - - - - - - - - 101030 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101030 - Subependymal nodular heterotopia - - Clinical subtype - - - - - - - - - - 35981 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35981 - Polymicrogyria - - Clinical group - - - - - - 268940 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268940 - Bilateral polymicrogyria - - Morphological anomaly - - - - - - 98889 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98889 - Bilateral perisylvian polymicrogyria - - Clinical subtype - - - - - - - - 101070 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101070 - Bilateral frontoparietal polymicrogyria - - Clinical subtype - - - - - - - - 208441 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=208441 - Bilateral parasagittal parieto-occipital polymicrogyria - - Clinical subtype - - - - - - - - 208444 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=208444 - Bilateral frontal polymicrogyria - - Clinical subtype - - - - - - - - 208447 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=208447 - Bilateral generalized polymicrogyria - - Clinical subtype - - - - - - - - - - 268943 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268943 - Unilateral polymicrogyria - - Morphological anomaly - - - - - - 101071 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101071 - Unilateral hemispheric polymicrogyria - - Clinical subtype - - - - - - - - 268947 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268947 - Unilateral focal polymicrogyria - - Clinical subtype - - - - - - - - - - - - 99796 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99796 - Subcortical band heterotopia - - Morphological anomaly - - - - - - - - 268950 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268950 - Cerebral cortical dysplasia - - Clinical group - - - - - - 65683 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65683 - Isolated focal cortical dysplasia - - Disease - - - - - - 268961 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268961 - Isolated focal cortical dysplasia type I - - Clinical subtype - - - - - - 268973 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268973 - Isolated focal cortical dysplasia type Ia - - Histopathological subtype - - - - - - - - 268980 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268980 - Isolated focal cortical dysplasia type Ib - - Histopathological subtype - - - - - - - - 268987 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268987 - Isolated focal cortical dysplasia type Ic - - Histopathological subtype - - - - - - - - - - 268994 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268994 - Isolated focal cortical dysplasia type II - - Clinical subtype - - - - - - 269001 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269001 - Isolated focal cortical dysplasia type IIa - - Histopathological subtype - - - - - - - - 269008 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269008 - Isolated focal cortical dysplasia type IIb - - Histopathological subtype - - - - - - - - - - - - - - 280640 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280640 - Occipital pachygyria and polymicrogyria - - Malformation syndrome - - - - - - - - 300570 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300570 - Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation - - Disease - - - - - - - - 329329 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329329 - Autosomal recessive frontotemporal pachygyria - - Malformation syndrome - - - - - - - - 2798 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2798 - Pachygyria-intellectual disability-epilepsy syndrome - - Malformation syndrome - - - - - - - - - - 199642 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199642 - Isolated congenital microcephaly - - Malformation syndrome - - - - - - 2512 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2512 - Autosomal recessive primary microcephaly - - Etiological subtype - - - - - - - - 2514 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2514 - Autosomal dominant primary microcephaly - - Etiological subtype - - - - - - - - - - 2477 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2477 - Isolated megalencephaly - - Malformation syndrome - - - - - - - - - - 269557 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269557 - Genetic posterior fossa malformation - - Category - - - - - - 98523 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98523 - Non-syndromic pontocerebellar hypoplasia - - Clinical group - - - - - - 2524 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2524 - Pontocerebellar hypoplasia type 2 - - Malformation syndrome - - - - - - - - 2254 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2254 - Pontocerebellar hypoplasia type 1 - - Malformation syndrome - - - - - - - - 97249 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97249 - Pontocerebellar hypoplasia type 3 - - Malformation syndrome - - - - - - - - 166063 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166063 - Pontocerebellar hypoplasia type 4 - - Malformation syndrome - - - - - - - - 166073 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166073 - Pontocerebellar hypoplasia type 6 - - Malformation syndrome - - - - - - - - 284339 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284339 - Pontocerebellar hypoplasia type 7 - - Malformation syndrome - - - - - - - - 324569 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324569 - Pontocerebellar hypoplasia type 8 - - Malformation syndrome - - - - - - - - 369920 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369920 - Pontocerebellar hypoplasia type 9 - - Malformation syndrome - - - - - - - - 411493 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411493 - Pontocerebellar hypoplasia type 10 - - Malformation syndrome - - - - - - - - 611256 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=611256 - Pontocerebellar hypoplasia type 12 - - Malformation syndrome - - - - - - - - 611247 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=611247 - Pontocerebellar hypoplasia type 11 - - Malformation syndrome - - - - - - - - 613267 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=613267 - Pontocerebellar hypoplasia type 13 - - Malformation syndrome - - - - - - - - 613274 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=613274 - Pontocerebellar hypoplasia type 14 - - Malformation syndrome - - - - - - - - - - 269560 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269560 - Genetic cerebellar malformation - - Category - - - - - - 475 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=475 - Isolated Joubert syndrome - - Malformation syndrome - - - - - - - - 1397 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1397 - Hydrocephaly-cerebellar agenesis syndrome - - Malformation syndrome - - - - - - - - - - 217 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217 - Isolated Dandy-Walker malformation - - Morphological anomaly - - - - - - 269212 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269212 - Isolated Dandy-Walker malformation with hydrocephalus - - Clinical subtype - - - - - - - - 269215 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269215 - Isolated Dandy-Walker malformation without hydrocephalus - - Clinical subtype - - - - - - - - - - - - 530033 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=530033 - Dermoid or epidermoid cyst of the central nervous system - - Morphological anomaly - - - - - - - - - - 269564 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269564 - Genetic syndrome with a central nervous system malformation as a major feature - - Category - - - - - - 556955 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=556955 - Pancreatic agenesis-holoprosencephaly syndrome - - Disease - - - - - - - - 544469 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=544469 - PRUNE1-related neurological syndrome - - Malformation syndrome - - - - - - - - 529574 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=529574 - Duane retraction syndrome with congenital deafness - - Malformation syndrome - - - - - - - - 564 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=564 - Meckel syndrome - - Malformation syndrome - - - - - - - - 2744 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2744 - Horizontal gaze palsy with progressive scoliosis - - Disease - - - - - - - - 2189 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2189 - Hydrolethalus - - Malformation syndrome - - - - - - - - 3157 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3157 - Septo-optic dysplasia spectrum - - Malformation syndrome - - - - - - - - 1768 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1768 - Familial caudal dysgenesis - - Malformation syndrome - - - - - - - - 48471 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=48471 - Lissencephaly - - Category - - - - - - 1083 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1083 - Microlissencephaly - - Morphological anomaly - - - - - - 89844 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=89844 - Lissencephaly syndrome, Norman-Roberts type - - Clinical subtype - - - - - - - - - - 51577 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=51577 - Cobblestone lissencephaly - - Clinical group - - - - - - 352682 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352682 - Cobblestone lissencephaly without muscular or ocular involvement - - Disease - - - - - - - - 352687 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352687 - Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies - - Clinical group - - - - - - 272 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=272 - Congenital muscular dystrophy, Fukuyama type - - Malformation syndrome - - - - - - - - 899 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=899 - Walker-Warburg syndrome - - Disease - - - - - - - - 588 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=588 - Muscle-eye-brain disease - - Malformation syndrome - - - - - - - - 370997 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370997 - Muscle-eye-brain disease with bilateral multicystic leucodystrophy - - Disease - - - - - - - - - - - - 86823 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86823 - Lissencephaly with cerebellar hypoplasia - - Clinical group - - - - - - 100011 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100011 - Lissencephaly with cerebellar hypoplasia type A - - Malformation syndrome - - - - - - - - 100012 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100012 - Lissencephaly with cerebellar hypoplasia type B - - Malformation syndrome - - - - - - - - 100013 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100013 - Lissencephaly with cerebellar hypoplasia type C - - Malformation syndrome - - - - - - - - 100014 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100014 - Lissencephaly with cerebellar hypoplasia type D - - Malformation syndrome - - - - - - - - 100015 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100015 - Lissencephaly with cerebellar hypoplasia type E - - Malformation syndrome - - - - - - - - 100016 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100016 - Lissencephaly with cerebellar hypoplasia type F - - Malformation syndrome - - - - - - - - - - 102009 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=102009 - Classic lissencephaly - - Clinical group - - - - - - 572013 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572013 - Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome - - Malformation syndrome - - - - - - - - 2148 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2148 - Lissencephaly type 1 due to doublecortin gene mutation - - Disease - - - - - - - - 531 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=531 - Miller-Dieker syndrome - - Malformation syndrome - - - - - - - - 1084 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1084 - Isolated lissencephaly type 1 without known genetic defects - - Disease - - - - - - - - 95232 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95232 - Lissencephaly due to LIS1 mutation - - Disease - - - - - - - - - - 102010 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=102010 - Other syndrome with lissencephaly as a major feature - - Category - - - - - - 1528 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1528 - Craniotelencephalic dysplasia - - Malformation syndrome - - - - - - - - 2510 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2510 - Micro syndrome - - Malformation syndrome - - - - - - - - 2995 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2995 - Baraitser-Winter cerebrofrontofacial syndrome - - Malformation syndrome - - - - - - - - 452 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=452 - X-linked lissencephaly with abnormal genitalia - - Malformation syndrome - - - - - - - - - - 102011 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=102011 - Lissencephaly type 3 - - Clinical group - - - - - - 2671 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2671 - Neu-Laxova syndrome - - Malformation syndrome - - - - - - 583602 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=583602 - Neu-Laxova syndrome due to phosphoserine aminotransferase deficiency - - Etiological subtype - - - - - - - - 583607 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=583607 - Neu-Laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency - - Etiological subtype - - - - - - - - 583612 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=583612 - Neu-Laxova syndrome due to 3-phosphoserine phosphatase deficiency - - Etiological subtype - - - - - - - - - - 86821 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86821 - Lissencephaly type 3-familial fetal akinesia sequence syndrome - - Malformation syndrome - - - - - - - - 86822 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86822 - Lissencephaly type 3-metacarpal bone dysplasia syndrome - - Malformation syndrome - - - - - - - - - - 171680 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171680 - Lissencephaly due to TUBA1A mutation - - Malformation syndrome - - - - - - - - - - 66625 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66625 - Cerebrooculonasal syndrome - - Malformation syndrome - - - - - - - - 210548 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210548 - Macrocephaly-intellectual disability-autism syndrome - - Disease - - - - - - - - 221126 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221126 - Fowler vasculopathy - - Malformation syndrome - - - - - - - - 247198 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247198 - Progressive cerebello-cerebral atrophy - - Disease - - - - - - - - 250972 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=250972 - Polymicrogyria with optic nerve hypoplasia - - Malformation syndrome - - - - - - - - 251383 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251383 - CK syndrome - - Malformation syndrome - - - - - - - - 269528 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269528 - Syndrome with microcephaly as a major feature - - Category - - - - - - 597743 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=597743 - SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome - - Malformation syndrome - - - - - - - - 572333 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572333 - Blepharophimosis-ptosis-epicanthus inversus syndrome plus - - Malformation syndrome - - - - - - - - 481152 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=481152 - PYCR2-related microcephaly-progressive leukoencephalopathy - - Malformation syndrome - - - - - - - - 2510 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2510 - Micro syndrome - - Malformation syndrome - - - - - - - - 3433 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3433 - Microcephaly-brachydactyly-kyphoscoliosis syndrome - - Malformation syndrome - - - - - - - - 1270 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1270 - Bowen-Conradi syndrome - - Malformation syndrome - - - - - - - - 2515 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2515 - Microcephaly-cardiomyopathy syndrome - - Malformation syndrome - - - - - - - - 2522 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2522 - Microcephaly-cervical spine fusion anomalies syndrome - - Malformation syndrome - - - - - - - - 2523 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2523 - Microcephaly-brain defect-spasticity-hypernatremia syndrome - - Malformation syndrome - - - - - - - - 2526 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2526 - Microcephaly-lymphedema-chorioretinopathy syndrome - - Malformation syndrome - - - - - - - - 2528 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2528 - Microcephaly-microcornea syndrome, Seemanova type - - Malformation syndrome - - - - - - - - 99742 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99742 - Amish lethal microcephaly - - Malformation syndrome - - - - - - - - 293967 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293967 - Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome - - Malformation syndrome - - - - - - - - 294016 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294016 - Microcephaly-capillary malformation syndrome - - Malformation syndrome - - - - - - - - 306558 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306558 - Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome - - Disease - - - - - - - - 313795 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313795 - Jawad syndrome - - Malformation syndrome - - - - - - - - 324761 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324761 - Microcephalic primordial dwarfism - - Clinical group - - - - - - 808 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=808 - Seckel syndrome - - Malformation syndrome - - - - - - - - 2554 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2554 - Ear-patella-short stature syndrome - - Malformation syndrome - - - - - - - - 2643 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2643 - Microcephalic primordial dwarfism, Toriello type - - Malformation syndrome - - - - - - - - 2636 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2636 - Microcephalic osteodysplastic primordial dwarfism types I and III - - Malformation syndrome - - - - - - - - 2637 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2637 - Microcephalic osteodysplastic primordial dwarfism type II - - Malformation syndrome - - - - - - - - 85172 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85172 - Microcephalic osteodysplastic dysplasia, Saul-Wilson type - - Disease - - - - - - - - 319671 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319671 - Alazami syndrome - - Malformation syndrome - - - - - - - - 319675 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319675 - Microcephalic primordial dwarfism, Dauber type - - Malformation syndrome - - - - - - - - 329228 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329228 - Microcephalic primordial dwarfism due to ZNF335 deficiency - - Malformation syndrome - - - - - - - - 468631 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=468631 - Microcephalic cortical malformations-short stature due to RTTN deficiency - - Malformation syndrome - - - - - - - - 658595 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=658595 - DNMT3A-related microcephalic dwarfism - - Malformation syndrome - - - - - - - - 572761 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572761 - DONSON-related microcephaly-short stature-limb abnormalities spectrum - - Malformation syndrome - - - - - - 572768 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572768 - Microcephaly-micromelia syndrome - - Clinical subtype - - - - - - - - 572773 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572773 - Microcephaly-short stature-limb abnormalities syndrome - - Clinical subtype - - - - - - - - - - - - 329332 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329332 - Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome - - Malformation syndrome - - - - - - - - 391408 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391408 - Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome - - Disease - - - - - - - - 402364 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=402364 - Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly - - Malformation syndrome - - - - - - - - 404437 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404437 - Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome - - Malformation syndrome - - - - - - - - 434179 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=434179 - Orofaciodigital syndrome type 14 - - Malformation syndrome - - - - - - - - 439897 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439897 - Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome - - Malformation syndrome - - - - - - - - 443162 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443162 - NDE1-related microhydranencephaly - - Malformation syndrome - - - - - - - - 477814 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477814 - Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome - - Malformation syndrome - - - - - - - - 662762 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662762 - Motor delay-microcephaly-speech impairment-ocular abnormalities syndrome - - Malformation syndrome - - - - - - - - 662179 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662179 - Microcephaly-hearing loss-facial dysmorphism-intellectual disability syndrome - - Malformation syndrome - - - - - - - - 664923 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=664923 - Congenital arthrogryposis-microcephaly-facial dysmorphism-severe neurodevelopmental delay syndrome - - Malformation syndrome - - - - - - - - 659642 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=659642 - Rauch-Steindl syndrome - - Malformation syndrome - - - - - - - - 684240 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=684240 - Neurodevelopmental disorder-spasticity-movement disorder-epileptic syndrome - - Malformation syndrome - - - - - - - - 699844 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699844 - Microcephaly-corpus callosum hypoplasia-simplified gyral pattern-intellectual disability syndrome - - Malformation syndrome - - - - - - - - 633035 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=633035 - Intellectual disability-early-onset cataract-microcephaly syndrome - - Malformation syndrome - - - - - - - - - - 269567 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269567 - Genetic syndrome with a cerebellar malformation as a major feature - - Category - - - - - - 480898 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480898 - Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome - - Disease - - - - - - - - 495875 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=495875 - Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome - - Malformation syndrome - - - - - - - - 1493 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1493 - Vici syndrome - - Malformation syndrome - - - - - - - - 314597 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314597 - Chudley-McCullough syndrome - - Malformation syndrome - - - - - - - - 2318 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2318 - Joubert syndrome with oculorenal defect - - Malformation syndrome - - - - - - - - 1454 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1454 - Joubert syndrome with hepatic defect - - Disease - - - - - - - - 1568 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1568 - X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome - - Malformation syndrome - - - - - - - - 2754 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2754 - Orofaciodigital syndrome type 6 - - Malformation syndrome - - - - - - - - 3322 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3322 - Hoyeraal-Hreidarsson syndrome - - Disease - - - - - - - - 42775 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=42775 - PHACE syndrome - - Malformation syndrome - - - - - - - - 65285 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65285 - Lhermitte-Duclos disease - - Clinical subtype - - - - - - - - 65288 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65288 - Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome - - Malformation syndrome - - - - - - - - 85186 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85186 - Endosteal sclerosis-cerebellar hypoplasia syndrome - - Malformation syndrome - - - - - - - - 137831 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137831 - X-linked intellectual disability-cerebellar hypoplasia syndrome - - Disease - - - - - - - - 163937 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163937 - X-linked intellectual disability, Najm type - - Disease - - - - - - - - 163961 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163961 - X-linked cerebral-cerebellar-coloboma syndrome - - Disease - - - - - - - - 220493 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220493 - Joubert syndrome with ocular defect - - Malformation syndrome - - - - - - - - 220497 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220497 - Joubert syndrome with renal defect - - Malformation syndrome - - - - - - - - 269570 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269570 - Genetic syndrome with a Dandy-Walker malformation as a major feature - - Category - - - - - - 1566 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1566 - Dandy-Walker malformation-postaxial polydactyly syndrome - - Malformation syndrome - - - - - - - - 1538 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1538 - Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome - - Malformation syndrome - - - - - - - - 7 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=7 - 3C syndrome - - Malformation syndrome - - - - - - - - 916 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=916 - Aase-Smith syndrome - - Malformation syndrome - - - - - - - - 1970 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1970 - Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome - - Malformation syndrome - - - - - - - - 2218 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2218 - Cervical hypertrichosis-peripheral neuropathy syndrome - - Disease - - - - - - - - 3032 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3032 - NPHP3-related Meckel-like syndrome - - Malformation syndrome - - - - - - - - 79332 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79332 - B4GALT1-CDG - - Disease - - - - - - - - - - 370022 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370022 - Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome - - Disease - - - - - - - - 397709 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397709 - Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome - - Malformation syndrome - - - - - - - - 401959 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401959 - Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome - - Malformation syndrome - - - - - - - - 439897 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439897 - Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome - - Malformation syndrome - - - - - - - - 444072 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444072 - Cerebellar-facial-dental syndrome - - Malformation syndrome - - - - - - - - 300573 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300573 - Polymicrogyria due to TUBB2B mutation - - Malformation syndrome - - - - - - - - 443162 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443162 - NDE1-related microhydranencephaly - - Malformation syndrome - - - - - - - - 457284 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457284 - Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome - - Malformation syndrome - - - - - - - - 529665 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=529665 - Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome - - Malformation syndrome - - - - - - - - 611223 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=611223 - EN1-related dorsoventral syndrome - - Malformation syndrome - - - - - - - - 467166 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=467166 - Tubulinopathy-associated dysgyria - - Disease - - - - - - - - 2703 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2703 - Port-wine nevi-mega cisterna magna-hydrocephalus syndrome - - Malformation syndrome - - - - - - - - 459070 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=459070 - X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome - - Malformation syndrome - - - - - - - - 466688 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466688 - Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome - - Malformation syndrome - - - - - - - - 468699 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=468699 - SLC39A8-CDG - - Disease - - - - - - - - - - 269573 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269573 - Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature - - Category - - - - - - 2510 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2510 - Micro syndrome - - Malformation syndrome - - - - - - - - 1083 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1083 - Microlissencephaly - - Morphological anomaly - - - - - - 89844 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=89844 - Lissencephaly syndrome, Norman-Roberts type - - Clinical subtype - - - - - - - - - - 83473 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83473 - Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome - - Malformation syndrome - - - - - - - - 50 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50 - Aicardi syndrome - - Disease - - - - - - - - 36 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36 - Acrocallosal syndrome - - Malformation syndrome - - - - - - - - 1496 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1496 - Corpus callosum agenesis-neuronopathy syndrome - - Disease - - - - - - - - 1493 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1493 - Vici syndrome - - Malformation syndrome - - - - - - - - 1495 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1495 - Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome - - Malformation syndrome - - - - - - - - 1777 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1777 - Temtamy syndrome - - Malformation syndrome - - - - - - - - 3338 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3338 - Toriello-Carey syndrome - - Malformation syndrome - - - - - - - - 52055 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52055 - Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome - - Malformation syndrome - - - - - - - - 171703 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171703 - Microcephaly-polymicrogyria-corpus callosum agenesis syndrome - - Malformation syndrome - - - - - - - - 275543 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275543 - L1 syndrome - - Malformation syndrome - - - - - - 2182 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2182 - Hydrocephalus with stenosis of the aqueduct of Sylvius - - Clinical subtype - - - - - - - - 2466 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2466 - MASA syndrome - - Clinical subtype - - - - - - - - 1497 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1497 - X-linked complicated corpus callosum dysgenesis - - Clinical subtype - - - - - - - - 306617 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306617 - X-linked complicated spastic paraplegia type 1 - - Clinical subtype - - - - - - - - - - 423655 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423655 - ARX-related encephalopathy-brain malformation spectrum - - Clinical group - - - - - - 2508 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2508 - Corpus callosum agenesis-abnormal genitalia syndrome - - Malformation syndrome - - - - - - - - 452 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=452 - X-linked lissencephaly with abnormal genitalia - - Malformation syndrome - - - - - - - - - - 467166 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=467166 - Tubulinopathy-associated dysgyria - - Disease - - - - - - - - 694937 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=694937 - Intellectual disability-peripheral neuropathy-corpus callosum abnormalities syndrome due to nudix hydrolase 2 deficiency - - Malformation syndrome - - - - - - - - 466688 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466688 - Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome - - Malformation syndrome - - - - - - - - 459074 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=459074 - Corpus callosum agenesis-macrocephaly-hypertelorism syndrome - - Malformation syndrome - - - - - - - - 447893 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447893 - Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome - - Clinical subtype - - - - - - - - - - 306547 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306547 - Porencephaly-microcephaly-bilateral congenital cataract syndrome - - Malformation syndrome - - - - - - - - 314993 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314993 - Cataract-congenital heart disease-neural tube defect syndrome - - Malformation syndrome - - - - - - - - 356961 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=356961 - SLC35A2-CDG - - Disease - - - - - - - - 444069 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444069 - Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome - - Malformation syndrome - - - - - - - - 480528 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480528 - Lethal hydranencephaly-diaphragmatic hernia syndrome - - Malformation syndrome - - - - - - - - 2184 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2184 - Hydrocephaly-low insertion umbilicus syndrome - - Malformation syndrome - - - - - - - - 2117 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2117 - Hartsfield syndrome - - Malformation syndrome - - - - - - - - 500135 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500135 - Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome - - Malformation syndrome - - - - - - - - 500144 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500144 - Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome - - Malformation syndrome - - - - - - - - 500150 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500150 - Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome - - Malformation syndrome - - - - - - - - 1861 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1861 - Thoracic dysplasia-hydrocephalus syndrome - - Malformation syndrome - - - - - - - - 592570 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=592570 - TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome - - Malformation syndrome - - - - - - - - 610569 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=610569 - KIAA1109-related early lethal congenital brain malformations-arthrogryposis syndrome - - Disease - - - - - - - - 603448 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=603448 - Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome - - Malformation syndrome - - - - - - - - - - - - 183509 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183509 - Rare genetic headache - - Category - - - - - - 569 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=569 - Familial or sporadic hemiplegic migraine - - Disease - - - - - - - - - - 183512 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183512 - Rare genetic epilepsy - - Category - - - - - - 166481 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166481 - Metabolic diseases with epilepsy - - Category - - - - - - 225681 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=225681 - Lysosomal disease with epilepsy - - Category - - - - - - 93 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93 - Aspartylglucosaminuria - - Disease - - - - - - - - 578 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=578 - Mucolipidosis type IV - - Disease - - - - - - - - 834 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=834 - Free sialic acid storage disease - - Disease - - - - - - 309324 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309324 - Free sialic acid storage disease, infantile form - - Clinical subtype - - - - - - - - 309331 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309331 - Intermediate severe Salla disease - - Clinical subtype - - - - - - - - 309334 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309334 - Salla disease - - Clinical subtype - - - - - - - - - - 216 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216 - Neuronal ceroid lipofuscinosis - - Clinical group - - - - - - 228329 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228329 - CLN1 disease - - Disease - - - - - - 699718 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699718 - Infantile CLN1 disease - - Clinical subtype - - - - - - - - 699739 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699739 - Juvenile CLN1 disease - - Clinical subtype - - - - - - - - 699745 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699745 - Adult CLN1 disease - - Clinical subtype - - - - - - - - 699734 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699734 - Late infantile CLN1 disease - - Clinical subtype - - - - - - - - - - 228349 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228349 - CLN2 disease - - Disease - - - - - - 699751 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699751 - Infantile CLN2 disease - - Clinical subtype - - - - - - - - 699769 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699769 - Juvenile CLN2 disease - - Clinical subtype - - - - - - - - 699761 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699761 - Late infantile CLN2 disease - - Clinical subtype - - - - - - - - - - 228346 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228346 - CLN3 disease - - Disease - - - - - - 699780 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699780 - Juvenile CLN3 disease - - Clinical subtype - - - - - - - - 699796 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699796 - Protracted juvenile CLN3 disease - - Clinical subtype - - - - - - - - - - 228343 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228343 - CLN4 disease - - Disease - - - - - - - - 314632 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314632 - CLN12 disease - - Disease - - - - - - - - 314629 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314629 - CLN11 disease - - Disease - - - - - - - - 699708 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699708 - CLN14 disease - - Disease - - - - - - - - 228360 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228360 - CLN5 disease - - Disease - - - - - - 699802 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699802 - Late infantile CLN5 disease - - Clinical subtype - - - - - - - - 699807 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699807 - Juvenile CLN5 disease - - Clinical subtype - - - - - - - - 699812 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699812 - Adult CLN5 disease - - Clinical subtype - - - - - - - - - - 228363 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228363 - CLN6 disease - - Disease - - - - - - 700477 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700477 - Adult CLN6 disease - - Clinical subtype - - - - - - - - 700467 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700467 - Late infantile CLN6 disease - - Clinical subtype - - - - - - - - 700472 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700472 - Juvenile CLN6 disease - - Clinical subtype - - - - - - - - - - 228366 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228366 - CLN7 disease - - Disease - - - - - - - - 228354 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228354 - CLN8 disease - - Disease - - - - - - 700484 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700484 - Late infantile CLN8 disease - - Clinical subtype - - - - - - - - 1947 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1947 - Northern epilepsy - - Clinical subtype - - - - - - - - - - 352709 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352709 - CLN13 disease - - Disease - - - - - - - - 228337 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228337 - CLN10 disease - - Disease - - - - - - 700487 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700487 - Congenital CLN10 disease - - Clinical subtype - - - - - - - - 700492 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700492 - Late infantile CLN10 disease - - Clinical subtype - - - - - - - - 700497 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700497 - Juvenile CLN10 disease - - Clinical subtype - - - - - - - - - - - - 581 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=581 - Mucopolysaccharidosis type 3 - - Disease - - - - - - 79269 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79269 - Sanfilippo syndrome type A - - Etiological subtype - - - - - - - - 79270 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79270 - Sanfilippo syndrome type B - - Etiological subtype - - - - - - - - 79271 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79271 - Sanfilippo syndrome type C - - Etiological subtype - - - - - - - - 79272 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79272 - Sanfilippo syndrome type D - - Etiological subtype - - - - - - - - - - 3137 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3137 - Alpha-N-acetylgalactosaminidase deficiency - - Disease - - - - - - 79279 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79279 - Alpha-N-acetylgalactosaminidase deficiency type 1 - - Clinical subtype - - - - - - - - 79280 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79280 - Alpha-N-acetylgalactosaminidase deficiency type 2 - - Clinical subtype - - - - - - - - 79281 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79281 - Alpha-N-acetylgalactosaminidase deficiency type 3 - - Clinical subtype - - - - - - - - - - 371442 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=371442 - Sphingolipidosis with epilepsy - - Category - - - - - - 487 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=487 - Krabbe disease - - Disease - - - - - - 206443 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206443 - Late-infantile/juvenile Krabbe disease - - Clinical subtype - - - - - - - - 206448 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206448 - Adult Krabbe disease - - Clinical subtype - - - - - - - - 206436 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206436 - Infantile Krabbe disease - - Clinical subtype - - - - - - - - - - 324 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324 - Fabry disease - - Disease - - - - - - - - 646 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=646 - Niemann-Pick disease type C - - Disease - - - - - - 216972 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216972 - Niemann-Pick disease type C, severe perinatal form - - Clinical subtype - - - - - - - - 216975 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216975 - Niemann-Pick disease type C, severe early infantile neurologic onset - - Clinical subtype - - - - - - - - 216978 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216978 - Niemann-Pick disease type C, late infantile neurologic onset - - Clinical subtype - - - - - - - - 216981 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216981 - Niemann-Pick disease type C, juvenile neurologic onset - - Clinical subtype - - - - - - - - 216986 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216986 - Niemann-Pick disease type C, adult neurologic onset - - Clinical subtype - - - - - - - - - - 139406 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139406 - Encephalopathy due to prosaposin deficiency - - Disease - - - - - - - - 77292 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77292 - Infantile neurovisceral acid sphingomyelinase deficiency - - Disease - - - - - - - - 77260 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77260 - Gaucher disease type 2 - - Clinical subtype - - - - - - - - 585 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=585 - Multiple sulfatase deficiency - - Disease - - - - - - - - 333 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=333 - Farber disease - - Disease - - - - - - - - 512 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=512 - Metachromatic leukodystrophy - - Disease - - - - - - 309256 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309256 - Metachromatic leukodystrophy, late infantile form - - Clinical subtype - - - - - - - - 309263 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309263 - Metachromatic leukodystrophy, juvenile form - - Clinical subtype - - - - - - - - 309271 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309271 - Metachromatic leukodystrophy, adult form - - Clinical subtype - - - - - - - - - - 309144 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309144 - Gangliosidosis - - Category - - - - - - 354 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=354 - GM1 gangliosidosis - - Disease - - - - - - 79255 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79255 - GM1 gangliosidosis type 1 - - Clinical subtype - - - - - - - - 79256 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79256 - GM1 gangliosidosis type 2 - - Clinical subtype - - - - - - - - 79257 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79257 - GM1 gangliosidosis type 3 - - Clinical subtype - - - - - - - - - - 309152 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309152 - GM2 gangliosidosis - - Clinical group - - - - - - 796 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=796 - Sandhoff disease - - Disease - - - - - - 309155 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309155 - Sandhoff disease, infantile form - - Clinical subtype - - - - - - - - 309162 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309162 - Sandhoff disease, juvenile form - - Clinical subtype - - - - - - - - 309169 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309169 - Sandhoff disease, adult form - - Clinical subtype - - - - - - - - - - 845 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=845 - Tay-Sachs disease - - Disease - - - - - - 309178 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309178 - Tay-Sachs disease, infantile form - - Clinical subtype - - - - - - - - 309185 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309185 - Tay-Sachs disease, juvenile form - - Clinical subtype - - - - - - - - 309192 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309192 - Tay-Sachs disease, adult form - - Clinical subtype - - - - - - - - - - 309246 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309246 - GM2 gangliosidosis, AB variant - - Disease - - - - - - - - - - - - 77261 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77261 - Gaucher disease type 3 - - Clinical subtype - - - - - - - - - - - - 225686 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=225686 - Peroxisomal disease with epilepsy - - Category - - - - - - 438178 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=438178 - Fatty acyl-CoA reductase 1 deficiency - - Disease - - - - - - - - 44 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=44 - Neonatal adrenoleukodystrophy - - Disease - - - - - - - - 43 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=43 - X-linked adrenoleukodystrophy - - Disease - - - - - - 139396 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139396 - X-linked cerebral adrenoleukodystrophy - - Clinical subtype - - - - - - - - 139399 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139399 - Adrenomyeloneuropathy - - Clinical subtype - - - - - - - - - - 912 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=912 - Zellweger syndrome - - Disease - - - - - - - - 177 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=177 - Rhizomelic chondrodysplasia punctata - - Disease - - - - - - 309803 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309803 - Rhizomelic chondrodysplasia punctata type 3 - - Etiological subtype - - - - - - - - 309789 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309789 - Rhizomelic chondrodysplasia punctata type 1 - - Etiological subtype - - - - - - - - 309796 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309796 - Rhizomelic chondrodysplasia punctata type 2 - - Etiological subtype - - - - - - - - 468717 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=468717 - Rhizomelic chondrodysplasia punctata type 5 - - Etiological subtype - - - - - - - - - - 2971 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2971 - Peroxisomal acyl-CoA oxidase deficiency - - Disease - - - - - - - - 772 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=772 - Infantile Refsum disease - - Disease - - - - - - - - - - 225689 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=225689 - Amino acid or protein metabolism disease with epilepsy - - Category - - - - - - 79157 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79157 - 2-methylbutyryl-CoA dehydrogenase deficiency - - Disease - - - - - - - - 141 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141 - Canavan disease - - Disease - - - - - - 314911 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314911 - Severe Canavan disease - - Clinical subtype - - - - - - - - 314918 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314918 - Mild Canavan disease - - Clinical subtype - - - - - - - - - - 716 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=716 - Phenylketonuria - - Disease - - - - - - 79253 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79253 - Mild phenylketonuria - - Clinical subtype - - - - - - - - 79254 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79254 - Classic phenylketonuria - - Clinical subtype - - - - - - - - 79651 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79651 - Mild hyperphenylalaninemia - - Clinical subtype - - - - - - - - 293284 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293284 - Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria - - Clinical subtype - - - - - - - - - - 79101 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79101 - Hyperprolinemia type 2 - - Disease - - - - - - - - 394 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=394 - Homocystinuria due to cystathionine beta-synthase deficiency - - Disease - - - - - - - - 419 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=419 - Hyperprolinemia type 1 - - Disease - - - - - - - - 308410 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308410 - Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency - - Disease - - - - - - - - 309147 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309147 - Hyper-beta-alaninemia - - Disease - - - - - - - - 505216 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=505216 - 3-methylglutaconic aciduria type 9 - - Disease - - - - - - - - 407 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=407 - Glycine encephalopathy - - Disease - - - - - - 289857 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289857 - Neonatal glycine encephalopathy - - Clinical subtype - - - - - - - - 289860 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289860 - Infantile glycine encephalopathy - - Clinical subtype - - - - - - - - 289863 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289863 - Atypical glycine encephalopathy - - Clinical subtype - - - - - - - - - - 833 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=833 - Encephalopathy due to sulfite oxidase deficiency - - Disease - - - - - - 99731 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99731 - Isolated sulfite oxidase deficiency - - Clinical subtype - - - - - - - - 99732 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99732 - Sulfite oxidase deficiency due to molybdenum cofactor deficiency - - Clinical subtype - - - - - - 308386 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308386 - Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A - - Etiological subtype - - - - - - - - 308393 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308393 - Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B - - Etiological subtype - - - - - - - - 308400 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308400 - Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C - - Etiological subtype - - - - - - - - - - - - 19 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=19 - 2-hydroxyglutaric aciduria - - Clinical group - - - - - - 79314 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79314 - L-2-hydroxyglutaric aciduria - - Disease - - - - - - - - 79315 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79315 - D-2-hydroxyglutaric aciduria - - Disease - - - - - - - - 356978 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=356978 - D,L-2-hydroxyglutaric aciduria - - Disease - - - - - - - - - - 557064 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=557064 - Neonatal epileptic encephalopathy due to glutaminase deficiency - - Disease - - - - - - - - - - 225692 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=225692 - Metal transport or utilization disorder with epilepsy - - Category - - - - - - 905 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=905 - Wilson disease - - Disease - - - - - - - - 565 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=565 - Menkes disease - - Disease - - - - - - - - - - 225696 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=225696 - Energy metabolism disorder with epilepsy - - Category - - - - - - 71212 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71212 - Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency - - Disease - - - - - - - - 868 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=868 - Triose phosphate-isomerase deficiency - - Disease - - - - - - - - 225700 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=225700 - Mitochondrial disease with epilepsy - - Category - - - - - - 480 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480 - Kearns-Sayre syndrome - - Disease - - - - - - - - 550 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=550 - MELAS - - Disease - - - - - - - - 551 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=551 - MERRF - - Disease - - - - - - - - 644 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=644 - NARP syndrome - - Disease - - - - - - - - 2609 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2609 - Isolated complex I deficiency - - Disease - - - - - - - - 506 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=506 - Leigh syndrome - - Disease - - - - - - - - 726 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=726 - Alpers-Huttenlocher syndrome - - Disease - - - - - - - - 24 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=24 - Fumaric aciduria - - Disease - - - - - - - - 298 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=298 - Mitochondrial neurogastrointestinal encephalomyopathy - - Disease - - - - - - - - 35656 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35656 - Coenzyme Q10 deficiency - - Clinical group - - - - - - 139485 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139485 - Autosomal recessive ataxia due to ubiquinone deficiency - - Disease - - - - - - - - 254898 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254898 - Deafness-encephaloneuropathy-obesity-valvulopathy syndrome - - Disease - - - - - - - - 280406 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280406 - Familial steroid-resistant nephrotic syndrome with sensorineural deafness - - Disease - - - - - - - - 319678 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319678 - Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome - - Disease - - - - - - - - 457185 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457185 - Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome - - Disease - - - - - - - - 658778 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=658778 - COQ7-related distal hereditary motor neuropathy - - Disease - - - - - - - - - - 70595 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70595 - Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome - - Disease - - - - - - - - 85282 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85282 - MEHMO syndrome - - Malformation syndrome - - - - - - - - 401859 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401859 - Lipoic acid synthetase deficiency - - Disease - - - - - - - - 353217 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353217 - Epileptic encephalopathy with global cerebral demyelination - - Disease - - - - - - - - 70472 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70472 - Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type - - Disease - - - - - - - - 447795 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447795 - Lipoyl transferase 2 deficiency - - Biological anomaly - - - - - - - - 31 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=31 - Oxoglutaric aciduria - - Disease - - - - - - - - 765 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=765 - Pyruvate dehydrogenase deficiency - - Disease - - - - - - 2394 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2394 - Pyruvate dehydrogenase E3 deficiency - - Clinical subtype - - - - - - - - 79243 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79243 - Pyruvate dehydrogenase E1-alpha deficiency - - Clinical subtype - - - - - - - - 79244 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79244 - Pyruvate dehydrogenase E2 deficiency - - Clinical subtype - - - - - - - - 79246 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79246 - Pyruvate dehydrogenase phosphatase deficiency - - Clinical subtype - - - - - - - - 255138 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=255138 - Pyruvate dehydrogenase E1-beta deficiency - - Clinical subtype - - - - - - - - 255182 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=255182 - Pyruvate dehydrogenase E3-binding protein deficiency - - Clinical subtype - - - - - - - - - - - - 35706 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35706 - Glutaric acidemia type 3 - - Disease - - - - - - - - 79172 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79172 - Creatine deficiency syndrome - - Clinical group - - - - - - 382 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=382 - Guanidinoacetate methyltransferase deficiency - - Disease - - - - - - - - 35704 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35704 - L-Arginine:glycine amidinotransferase deficiency - - Disease - - - - - - - - 52503 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52503 - X-linked creatine transporter deficiency - - Disease - - - - - - - - - - - - 225707 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=225707 - Metabolic neurotransmission anomaly with epilepsy - - Category - - - - - - 22 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=22 - Succinic semialdehyde dehydrogenase deficiency - - Disease - - - - - - - - 3006 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3006 - Pyridoxine-dependent-developmental and epileptic encephalopathy - - Disease - - - - - - - - 2066 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2066 - Gamma-aminobutyric acid transaminase deficiency - - Disease - - - - - - - - 65287 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65287 - Beta-ureidopropionase deficiency - - Disease - - - - - - - - 79096 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79096 - Pyridoxamine-5-phosphate deficiency-developmental and epileptic encephalopathy - - Disease - - - - - - - - 79219 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79219 - Metabolic disease involving other neurotransmitter deficiency - - Category - - - - - - 3197 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3197 - Hereditary hyperekplexia - - Disease - - - - - - - - 132 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=132 - Hereditary butyrylcholinesterase deficiency - - Disease - - - - - - - - 79097 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79097 - Folinic acid-responsive seizures - - Disease - - - - - - - - - - 675775 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=675775 - Severe congenital myelofibrosis-pancytopenia-intellectual disability-neurologic and ophthalmic abnormalities syndrome - - Disease - - - - - - - - - - 225710 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=225710 - Sterol metabolism disorder with epilepsy - - Category - - - - - - 909 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=909 - Cerebrotendinous xanthomatosis - - Disease - - - - - - - - - - 225713 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=225713 - Other metabolic disease with epilepsy - - Category - - - - - - 480864 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480864 - Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome - - Disease - - - - - - - - 46 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=46 - Adenylosuccinate lyase deficiency - - Disease - - - - - - - - 395 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=395 - Homocystinuria due to methylene tetrahydrofolate reductase deficiency - - Disease - - - - - - - - 2388 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2388 - Choreoacanthocytosis - - Disease - - - - - - - - 59306 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=59306 - McLeod neuroacanthocytosis syndrome - - Disease - - - - - - - - 71277 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71277 - Classic glucose transporter type 1 deficiency syndrome - - Disease - - - - - - - - 217382 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217382 - Neurodegenerative syndrome due to cerebral folate transport deficiency - - Disease - - - - - - - - 457375 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457375 - ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement - - Disease - - - - - - - - 319651 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319651 - Constitutional megaloblastic anemia with severe neurologic disease - - Disease - - - - - - - - 597874 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=597874 - MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome - - Disease - - - - - - - - - - 371071 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=371071 - Congenital disorder of glycosylation with epilepsy as a major feature - - Category - - - - - - 79322 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79322 - DPM1-CDG - - Disease - - - - - - - - 79323 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79323 - MPDU1-CDG - - Disease - - - - - - - - 79326 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79326 - ALG2-CDG - - Disease - - - - - - - - 79327 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79327 - ALG1-CDG - - Disease - - - - - - - - 79328 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79328 - ALG9-CDG - - Disease - - - - - - - - 79330 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79330 - MOGS-CDG - - Disease - - - - - - - - 79333 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79333 - COG7-CDG - - Disease - - - - - - - - 83639 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83639 - Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency - - Disease - - - - - - - - 86309 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86309 - DPAGT1-CDG - - Disease - - - - - - - - 95428 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95428 - COG8-CDG - - Disease - - - - - - - - 99843 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99843 - Leukocyte adhesion deficiency type II - - Clinical subtype - - - - - - - - 238459 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238459 - SLC35A1-CDG - - Disease - - - - - - - - 244310 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=244310 - RFT1-CDG - - Disease - - - - - - - - 263501 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263501 - COG4-CDG - - Disease - - - - - - - - 280071 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280071 - ALG11-CDG - - Disease - - - - - - - - 280633 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280633 - Multiple congenital anomalies-hypotonia-seizures syndrome - - Malformation syndrome - - - - - - - - 300496 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300496 - Multiple congenital anomalies-hypotonia-seizures syndrome type 2 - - Malformation syndrome - - - - - - - - 324422 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324422 - ALG13-CDG - - Disease - - - - - - - - 329178 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329178 - Congenital muscular dystrophy with intellectual disability and severe epilepsy - - Disease - - - - - - - - 356961 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=356961 - SLC35A2-CDG - - Disease - - - - - - - - 357058 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357058 - Autosomal recessive cutis laxa type 2A - - Disease - - - - - - 2834 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2834 - Wrinkly skin syndrome - - Clinical subtype - - - - - - - - 357074 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357074 - Autosomal recessive cutis laxa type 2, classic type - - Clinical subtype - - - - - - - - - - 370921 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370921 - STT3A-CDG - - Disease - - - - - - - - 370924 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370924 - STT3B-CDG - - Disease - - - - - - - - 370927 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370927 - SSR4-CDG - - Disease - - - - - - - - 370933 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370933 - GM3 synthase deficiency - - Disease - - - - - - - - 370943 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370943 - Autism spectrum disorder-epilepsy-arthrogryposis syndrome - - Disease - - - - - - - - 3474 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3474 - CHIME syndrome - - Malformation syndrome - - - - - - - - 272 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=272 - Congenital muscular dystrophy, Fukuyama type - - Malformation syndrome - - - - - - - - 899 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=899 - Walker-Warburg syndrome - - Disease - - - - - - - - 588 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=588 - Muscle-eye-brain disease - - Malformation syndrome - - - - - - - - 79318 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79318 - PMM2-CDG - - Disease - - - - - - - - 79320 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79320 - ALG6-CDG - - Disease - - - - - - - - 79321 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79321 - ALG3-CDG - - Disease - - - - - - - - 488635 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488635 - Early-onset epilepsy-intellectual disability-brain anomalies syndrome - - Disease - - - - - - - - 466926 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466926 - Seizures-scoliosis-macrocephaly syndrome - - Disease - - - - - - - - - - 79134 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79134 - DEND syndrome - - Disease - - - - - - - - - - 166469 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166469 - Chromosomal anomaly with epilepsy as a major feature - - Category - - - - - - 908 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=908 - Fragile X syndrome - - Malformation syndrome - - - - - - - - 280 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280 - Wolf-Hirschhorn syndrome - - Malformation syndrome - - - - - - - - 884 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=884 - Pallister-Killian syndrome - - Malformation syndrome - - - - - - - - 1444 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1444 - Ring chromosome 20 syndrome - - Malformation syndrome - - - - - - - - 3306 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3306 - Inverted duplicated chromosome 15 syndrome - - Malformation syndrome - - - - - - - - 1440 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1440 - Ring chromosome 14 syndrome - - Malformation syndrome - - - - - - - - 1606 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1606 - 1p36 deletion syndrome - - Malformation syndrome - - - - - - - - 531 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=531 - Miller-Dieker syndrome - - Malformation syndrome - - - - - - - - 217377 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217377 - Microduplication Xp11.22p11.23 syndrome - - Malformation syndrome - - - - - - - - 228384 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228384 - 5q14.3 microdeletion syndrome - - Etiological subtype - - - - - - - - 72 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=72 - Angelman syndrome - - Malformation syndrome - - - - - - 98794 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98794 - Angelman syndrome due to maternal 15q11q13 deletion - - Etiological subtype - - - - - - - - 98795 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98795 - Angelman syndrome due to paternal uniparental disomy of chromosome 15 - - Etiological subtype - - - - - - - - 411511 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411511 - Angelman syndrome due to a point mutation - - Etiological subtype - - - - - - - - 411515 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411515 - Angelman syndrome due to imprinting defect in 15q11-q13 - - Etiological subtype - - - - - - - - - - 199318 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199318 - 15q13.3 microdeletion syndrome - - Malformation syndrome - - - - - - - - 96147 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96147 - Kleefstra syndrome due to 9q34 microdeletion - - Etiological subtype - - - - - - - - 495818 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=495818 - 9q33.3q34.11 microdeletion syndrome - - Malformation syndrome - - - - - - - - 228402 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228402 - 2q23.1 microdeletion syndrome - - Malformation syndrome - - - - - - - - 261537 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261537 - Mowat-Wilson syndrome due to monosomy 2q22 - - Etiological subtype - - - - - - - - - - 166463 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166463 - Epilepsy syndrome - - Category - - - - - - 98259 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98259 - Childhood-onset epilepsy syndrome - - Category - - - - - - 2382 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2382 - Lennox-Gastaut syndrome - - Disease - - - - - - - - 1942 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1942 - Epilepsy with myoclonic-atonic seizures - - Disease - - - - - - - - 309 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309 - Familial partial epilepsy - - Clinical group - - - - - - 36387 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36387 - Genetic epilepsy with febrile seizure plus - - Disease - - - - - - - - 79137 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79137 - Generalized epilepsy-paroxysmal dyskinesia syndrome - - Disease - - - - - - - - 98819 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98819 - Familial temporal lobe epilepsy - - Disease - - - - - - - - 99701 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99701 - Mesial temporal lobe epilepsy with hippocampal sclerosis - - Disease - - - - - - - - 163717 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163717 - Familial mesial temporal lobe epilepsy - - Disease - - - - - - - - - - 725 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=725 - Developmental and epileptic encephalopathy with spike-wave activation in sleep - - Disease - - - - - - - - 25968 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=25968 - Self-limited childhood occipital epilepsy - - Disease - - - - - - 98815 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98815 - Self-limited epilepsy with autonomic seizures - - Clinical subtype - - - - - - - - 98816 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98816 - Childhood occipital visual epilepsy - - Clinical subtype - - - - - - - - - - 98818 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98818 - Landau-Kleffner syndrome - - Disease - - - - - - - - 163708 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163708 - Cryptogenic late-onset epileptic spasms - - Disease - - - - - - - - 163721 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163721 - Rolandic epilepsy-speech dyspraxia syndrome - - Disease - - - - - - - - 163727 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163727 - Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome - - Disease - - - - - - - - 289266 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289266 - Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation - - Disease - - - - - - - - 1945 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1945 - Self-limited epilepsy with centrotemporal spikes - - Disease - - - - - - - - 86911 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86911 - Epilepsy with myoclonic absences - - Disease - - - - - - - - 64280 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64280 - Childhood absence epilepsy - - Disease - - - - - - - - 86908 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86908 - Hemiconvulsion-hemiplegia-epilepsy syndrome - - Disease - - - - - - - - - - 98260 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98260 - Adolescent-onset epilepsy syndrome - - Category - - - - - - 309 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309 - Familial partial epilepsy - - Clinical group - - - - - - 36387 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36387 - Genetic epilepsy with febrile seizure plus - - Disease - - - - - - - - 79137 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79137 - Generalized epilepsy-paroxysmal dyskinesia syndrome - - Disease - - - - - - - - 98819 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98819 - Familial temporal lobe epilepsy - - Disease - - - - - - - - 99701 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99701 - Mesial temporal lobe epilepsy with hippocampal sclerosis - - Disease - - - - - - - - 163717 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163717 - Familial mesial temporal lobe epilepsy - - Disease - - - - - - - - - - 86814 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86814 - Familial adult myoclonic epilepsy - - Disease - - - - - - - - - - 693802 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=693802 - Neonatal-infantile onset epilepsy syndrome - - Clinical group - - - - - - 166311 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166311 - Benign partial infantile seizures - - Clinical group - - - - - - 31709 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=31709 - Infantile convulsions and choreoathetosis - - Disease - - - - - - - - 166308 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166308 - Benign infantile focal epilepsy with midline spikes and waves during sleep - - Disease - - - - - - - - - - 163681 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163681 - CNTNAP2-related developmental and epileptic encephalopathy - - Disease - - - - - - - - 599373 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=599373 - STXBP1-related encephalopathy - - Disease - - - - - - - - 697160 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=697160 - Infantile epileptic spasms syndrome - - Disease - - - - - - - - 505652 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=505652 - CDKL5-deficiency disorder - - Disease - - - - - - - - 1943 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1943 - Early-onset progressive encephalopathy with migrant continuous myoclonus - - Disease - - - - - - - - 1934 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1934 - Early infantile developmental and epileptic encephalopathy - - Clinical syndrome - - - - - - - - 1949 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1949 - Self-limited neonatal epilepsy - - Disease - - - - - - - - 209370 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209370 - MECP2-related severe neonatal encephalopathy - - Disease - - - - - - - - 293181 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293181 - Epilepsy of infancy with migrating focal seizures - - Disease - - - - - - - - 33069 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33069 - Dravet syndrome - - Disease - - - - - - - - 36387 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36387 - Genetic epilepsy with febrile seizure plus - - Disease - - - - - - - - 86909 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86909 - Myoclonic epilepsy of infancy - - Disease - - - - - - - - 544254 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=544254 - SYNGAP1-related developmental and epileptic encephalopathy - - Disease - - - - - - - - 71277 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71277 - Classic glucose transporter type 1 deficiency syndrome - - Disease - - - - - - - - 3205 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3205 - Sturge-Weber syndrome - - Malformation syndrome - - - - - - - - 3006 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3006 - Pyridoxine-dependent-developmental and epileptic encephalopathy - - Disease - - - - - - - - 79096 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79096 - Pyridoxamine-5-phosphate deficiency-developmental and epileptic encephalopathy - - Disease - - - - - - - - 86906 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86906 - Gelastic seizures with hypothalamic hamartoma - - Disease - - - - - - - - 439218 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439218 - KCNQ2-related developmental and epileptic encephalopathy - - Disease - - - - - - - - 306 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306 - Self-limited infantile epilepsy - - Disease - - - - - - - - 140927 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140927 - Self-limited neonatal-infantile epilepsy - - Disease - - - - - - - - - - 699645 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699645 - Variable age-onset epilepsy syndrome - - Clinical group - - - - - - 86913 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86913 - Myoclonic epilepsy in non-progressive encephalopathies - - Malformation syndrome - - - - - - - - 698005 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=698005 - Epilepsy with generalized tonic-clonic seizures alone - - Disease - - - - - - - - 98784 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98784 - Sleep-related hypermotor epilepsy - - Disease - - - - - - - - 1941 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1941 - Juvenile absence epilepsy - - Disease - - - - - - - - 307 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=307 - Juvenile myoclonic epilepsy - - Disease - - - - - - - - 98820 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98820 - Familial focal epilepsy with variable foci - - Disease - - - - - - - - 101046 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101046 - Epilepsy with auditory features - - Disease - - - - - - - - 310 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=310 - Reflex epilepsy - - Clinical group - - - - - - - - 98261 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98261 - Progressive myoclonic epilepsy - - Clinical group - - - - - - 551 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=551 - MERRF - - Disease - - - - - - - - 501 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=501 - Lafora disease - - Disease - - - - - - - - 308 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308 - Progressive myoclonic epilepsy type 1 - - Disease - - - - - - - - 228346 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228346 - CLN3 disease - - Disease - - - - - - 699780 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699780 - Juvenile CLN3 disease - - Clinical subtype - - - - - - - - 699796 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699796 - Protracted juvenile CLN3 disease - - Clinical subtype - - - - - - - - - - 228343 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228343 - CLN4 disease - - Disease - - - - - - - - 228360 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228360 - CLN5 disease - - Disease - - - - - - 699802 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699802 - Late infantile CLN5 disease - - Clinical subtype - - - - - - - - 699807 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699807 - Juvenile CLN5 disease - - Clinical subtype - - - - - - - - 699812 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699812 - Adult CLN5 disease - - Clinical subtype - - - - - - - - - - 85110 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85110 - Familial encephalopathy with neuroserpin inclusion bodies - - Disease - - - - - - 530303 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=530303 - Progressive dementia with neuroserpin inclusion bodies - - Clinical subtype - - - - - - - - 530298 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=530298 - Progressive myoclonic epilepsy with neuroserpin inclusion bodies - - Clinical subtype - - - - - - - - - - 228329 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228329 - CLN1 disease - - Disease - - - - - - 699718 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699718 - Infantile CLN1 disease - - Clinical subtype - - - - - - - - 699739 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699739 - Juvenile CLN1 disease - - Clinical subtype - - - - - - - - 699745 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699745 - Adult CLN1 disease - - Clinical subtype - - - - - - - - 699734 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699734 - Late infantile CLN1 disease - - Clinical subtype - - - - - - - - - - 228349 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228349 - CLN2 disease - - Disease - - - - - - 699751 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699751 - Infantile CLN2 disease - - Clinical subtype - - - - - - - - 699769 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699769 - Juvenile CLN2 disease - - Clinical subtype - - - - - - - - 699761 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699761 - Late infantile CLN2 disease - - Clinical subtype - - - - - - - - - - 280620 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280620 - Progressive myoclonic epilepsy type 6 - - Disease - - - - - - - - 324290 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324290 - PRDM8-related progressive myoclonus epilepsy - - Disease - - - - - - - - 402082 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=402082 - Progressive myoclonic epilepsy type 5 - - Disease - - - - - - - - 424027 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424027 - Progressive myoclonic epilepsy type 8 - - Disease - - - - - - - - 435438 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435438 - Progressive myoclonic epilepsy type 7 - - Disease - - - - - - - - 228363 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228363 - CLN6 disease - - Disease - - - - - - 700477 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700477 - Adult CLN6 disease - - Clinical subtype - - - - - - - - 700467 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700467 - Late infantile CLN6 disease - - Clinical subtype - - - - - - - - 700472 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700472 - Juvenile CLN6 disease - - Clinical subtype - - - - - - - - - - 228366 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228366 - CLN7 disease - - Disease - - - - - - - - 228354 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228354 - CLN8 disease - - Disease - - - - - - 700484 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700484 - Late infantile CLN8 disease - - Clinical subtype - - - - - - - - 1947 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1947 - Northern epilepsy - - Clinical subtype - - - - - - - - - - 228337 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228337 - CLN10 disease - - Disease - - - - - - 700487 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700487 - Congenital CLN10 disease - - Clinical subtype - - - - - - - - 700492 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700492 - Late infantile CLN10 disease - - Clinical subtype - - - - - - - - 700497 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700497 - Juvenile CLN10 disease - - Clinical subtype - - - - - - - - - - 352709 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352709 - CLN13 disease - - Disease - - - - - - - - 263516 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263516 - Progressive myoclonic epilepsy type 3 - - Disease - - - - - - - - 457265 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457265 - Progressive myoclonic epilepsy type 9 - - Disease - - - - - - - - 314629 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314629 - CLN11 disease - - Disease - - - - - - - - 2590 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2590 - Spinal muscular atrophy-progressive myoclonic epilepsy syndrome - - Disease - - - - - - - - - - - - - - 166466 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166466 - Neurocutaneous syndrome with epilepsy - - Category - - - - - - 100 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100 - Ataxia-telangiectasia - - Disease - - - - - - - - 636 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=636 - Neurofibromatosis type 1 - - Disease - - - - - - 97685 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97685 - 17q11 microdeletion syndrome - - Clinical subtype - - - - - - - - 363700 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363700 - Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion - - Etiological subtype - - - - - - - - - - 464 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464 - Incontinentia pigmenti - - Malformation syndrome - - - - - - - - 744 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=744 - Proteus syndrome - - Malformation syndrome - - - - - - - - 3205 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3205 - Sturge-Weber syndrome - - Malformation syndrome - - - - - - - - 805 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=805 - Tuberous sclerosis complex - - Disease - - - - - - - - 33445 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33445 - Neuroectodermal melanolysosomal disease - - Malformation syndrome - - - - - - - - - - 166472 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166472 - Monogenic disease with epilepsy - - Category - - - - - - 589515 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589515 - PUM1-associated developmental disability-ataxia-seizure syndrome - - Disease - - - - - - - - 428 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=428 - Autosomal dominant hypocalcemia - - Clinical subtype - - - - - - - - 3173 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3173 - Infantile spasms-broad thumbs syndrome - - Disease - - - - - - - - 1951 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1951 - Epilepsy-telangiectasia syndrome - - Disease - - - - - - - - 99807 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99807 - PEHO-like syndrome - - Disease - - - - - - - - 99989 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99989 - Intermediate DEND syndrome - - Disease - - - - - - - - 778 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=778 - Rett syndrome - - Disease - - - - - - - - 1947 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1947 - Northern epilepsy - - Clinical subtype - - - - - - - - 2076 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2076 - X-linked intellectual disability-epilepsy syndrome - - Clinical group - - - - - - 93952 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93952 - X-linked intellectual disability, Hedera type - - Disease - - - - - - - - 101039 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101039 - Female restricted epilepsy with intellectual disability - - Disease - - - - - - - - 163985 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163985 - Hyperekplexia-epilepsy syndrome - - Disease - - - - - - - - - - 3095 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3095 - Atypical Rett syndrome - - Disease - - - - - - - - 85279 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85279 - KDM5C-related syndromic X-linked intellectual disability - - Malformation syndrome - - - - - - - - 85294 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85294 - X-linked epilepsy-learning disabilities-behavior disorders syndrome - - Disease - - - - - - - - 182079 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=182079 - ARX-related epileptic encephalopathy - - Clinical group - - - - - - 1934 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1934 - Early infantile developmental and epileptic encephalopathy - - Clinical syndrome - - - - - - - - 3175 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3175 - X-linked spasticity-intellectual disability-epilepsy syndrome - - Disease - - - - - - - - 94083 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94083 - Partington syndrome - - Malformation syndrome - - - - - - - - 364063 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=364063 - Infantile epileptic-dyskinetic encephalopathy - - Disease - - - - - - - - 423655 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423655 - ARX-related encephalopathy-brain malformation spectrum - - Clinical group - - - - - - 2508 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2508 - Corpus callosum agenesis-abnormal genitalia syndrome - - Malformation syndrome - - - - - - - - 452 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=452 - X-linked lissencephaly with abnormal genitalia - - Malformation syndrome - - - - - - - - - - - - 182083 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=182083 - Channelopathy with epilepsy - - Category - - - - - - 33069 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33069 - Dravet syndrome - - Disease - - - - - - - - 199343 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199343 - EAST syndrome - - Disease - - - - - - - - 293181 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293181 - Epilepsy of infancy with migrating focal seizures - - Disease - - - - - - - - 1934 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1934 - Early infantile developmental and epileptic encephalopathy - - Clinical syndrome - - - - - - - - 309 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309 - Familial partial epilepsy - - Clinical group - - - - - - 36387 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36387 - Genetic epilepsy with febrile seizure plus - - Disease - - - - - - - - 79137 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79137 - Generalized epilepsy-paroxysmal dyskinesia syndrome - - Disease - - - - - - - - 98819 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98819 - Familial temporal lobe epilepsy - - Disease - - - - - - - - 99701 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99701 - Mesial temporal lobe epilepsy with hippocampal sclerosis - - Disease - - - - - - - - 163717 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163717 - Familial mesial temporal lobe epilepsy - - Disease - - - - - - - - - - - - 199348 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199348 - Thiamine-responsive encephalopathy - - Disease - - - - - - - - 209370 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209370 - MECP2-related severe neonatal encephalopathy - - Disease - - - - - - - - 352582 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352582 - Familial infantile myoclonic epilepsy - - Disease - - - - - - - - 352587 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352587 - Focal epilepsy-intellectual disability-cerebro-cerebellar malformation - - Disease - - - - - - - - 352596 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352596 - Progressive myoclonic epilepsy with dystonia - - Disease - - - - - - - - 127 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=127 - Borjeson-Forssman-Lehmann syndrome - - Malformation syndrome - - - - - - - - 391316 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391316 - Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression - - Disease - - - - - - - - 404481 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404481 - Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome - - Clinical group - - - - - - 284282 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284282 - Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency - - Disease - - - - - - - - 404493 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404493 - Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency - - Disease - - - - - - - - 404499 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404499 - Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency - - Disease - - - - - - - - - - 411986 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411986 - Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome - - Malformation syndrome - - - - - - - - 435845 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435845 - Lethal neonatal spasticity-epileptic encephalopathy syndrome - - Malformation syndrome - - - - - - - - 442835 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=442835 - Non-specific early-onset epileptic encephalopathy - - Disease - - - - - - - - 544503 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=544503 - RNF13-related severe early-onset epileptic encephalopathy - - Disease - - - - - - - - 565858 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=565858 - Craniosynostosis-microretrognathia-severe intellectual disability syndrome - - Malformation syndrome - - - - - - - - 561854 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=561854 - FOXG1 syndrome - - Disease - - - - - - 598164 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=598164 - FOXG1 syndrome due to intragenic alteration - - Clinical subtype - - - - - - - - 261144 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261144 - FOXG1 syndrome due to 14q12 microdeletion - - Clinical subtype - - - - - - - - - - 564178 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=564178 - Primary hypomagnesemia-refractory seizures-intellectual disability syndrome - - Disease - - - - - - - - 464282 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464282 - Spastic paraplegia-severe developmental delay-epilepsy syndrome - - Disease - - - - - - - - 496641 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=496641 - Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome - - Malformation syndrome - - - - - - - - 500545 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500545 - Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract - - Disease - - - - - - - - 500533 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500533 - Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome - - Disease - - - - - - - - 505237 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=505237 - Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome - - Malformation syndrome - - - - - - - - 37612 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=37612 - Episodic ataxia type 1 - - Disease - - - - - - - - 488613 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488613 - Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome - - Malformation syndrome - - - - - - - - 2836 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2836 - PEHO syndrome - - Disease - - - - - - - - 163696 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163696 - Action myoclonus-renal failure syndrome - - Disease - - - - - - - - 2574 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2574 - Moynahan syndrome - - Malformation syndrome - - - - - - - - 2152 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2152 - Mowat-Wilson syndrome - - Malformation syndrome - - - - - - 261537 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261537 - Mowat-Wilson syndrome due to monosomy 2q22 - - Etiological subtype - - - - - - - - 261552 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261552 - Mowat-Wilson syndrome due to a ZEB2 point mutation - - Etiological subtype - - - - - - - - - - 2896 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2896 - Pitt-Hopkins syndrome - - Malformation syndrome - - - - - - - - 397933 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397933 - Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome - - Disease - - - - - - - - 101685 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101685 - Rare non-syndromic intellectual disability - - Disease - - - - - - 777 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=777 - X-linked non-syndromic intellectual disability - - Etiological subtype - - - - - - - - 88616 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88616 - Autosomal recessive non-syndromic intellectual disability - - Etiological subtype - - - - - - - - 178469 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178469 - Autosomal dominant non-syndromic intellectual disability - - Etiological subtype - - - - - - - - - - 2804 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2804 - W syndrome - - Malformation syndrome - - - - - - - - 592564 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=592564 - GNAO1-related developmental delay-seizures-movement disorder spectrum - - Disease - - - - - - - - 684232 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=684232 - Intellectual disability-épilepsy-dental anomalies-facial dysmorphism syndrome - - Malformation syndrome - - - - - - - - 684240 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=684240 - Neurodevelopmental disorder-spasticity-movement disorder-epileptic syndrome - - Malformation syndrome - - - - - - - - 662367 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662367 - NESCAV syndrome - - Disease - - - - - - - - 684216 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=684216 - Intellectual disability-facial dysmorphism-joint hypermobility-hearing loss syndrome - - Malformation syndrome - - - - - - - - 689397 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=689397 - Poirier-Bienvenu neurodevelopmental syndrome - - Malformation syndrome - - - - - - - - 694922 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=694922 - Childhood-onset stress-induced neurodegenerative ataxia-seizure syndrome - - Disease - - - - - - - - - - 166475 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166475 - Idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes - - Category - - - - - - 309 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309 - Familial partial epilepsy - - Clinical group - - - - - - 36387 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36387 - Genetic epilepsy with febrile seizure plus - - Disease - - - - - - - - 79137 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79137 - Generalized epilepsy-paroxysmal dyskinesia syndrome - - Disease - - - - - - - - 98819 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98819 - Familial temporal lobe epilepsy - - Disease - - - - - - - - 99701 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99701 - Mesial temporal lobe epilepsy with hippocampal sclerosis - - Disease - - - - - - - - 163717 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163717 - Familial mesial temporal lobe epilepsy - - Disease - - - - - - - - - - 306 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306 - Self-limited infantile epilepsy - - Disease - - - - - - - - 140927 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140927 - Self-limited neonatal-infantile epilepsy - - Disease - - - - - - - - - - 166478 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166478 - Cerebral malformation with epilepsy - - Category - - - - - - 1647 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1647 - Oculocerebrocutaneous syndrome - - Malformation syndrome - - - - - - - - 50 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50 - Aicardi syndrome - - Disease - - - - - - - - 2162 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2162 - Holoprosencephaly - - Malformation syndrome - - - - - - 93924 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93924 - Lobar holoprosencephaly - - Clinical subtype - - - - - - - - 93925 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93925 - Alobar holoprosencephaly - - Clinical subtype - - - - - - - - 93926 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93926 - Midline interhemispheric variant of holoprosencephaly - - Clinical subtype - - - - - - - - 220386 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220386 - Semilobar holoprosencephaly - - Clinical subtype - - - - - - - - 280195 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280195 - Septopreoptic holoprosencephaly - - Clinical subtype - - - - - - - - - - 799 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=799 - Schizencephaly - - Disease - - - - - - 481986 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=481986 - Familial schizencephaly - - Etiological subtype - - - - - - - - 485275 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=485275 - Acquired schizencephaly - - Etiological subtype - - - - - - - - - - 2940 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2940 - Porencephaly - - Disease - - - - - - 99810 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99810 - Familial porencephaly - - Etiological subtype - - - - - - - - 314697 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314697 - Acquired porencephaly - - Etiological subtype - - - - - - - - - - 48471 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=48471 - Lissencephaly - - Category - - - - - - 1083 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1083 - Microlissencephaly - - Morphological anomaly - - - - - - 89844 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=89844 - Lissencephaly syndrome, Norman-Roberts type - - Clinical subtype - - - - - - - - - - 51577 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=51577 - Cobblestone lissencephaly - - Clinical group - - - - - - 352682 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352682 - Cobblestone lissencephaly without muscular or ocular involvement - - Disease - - - - - - - - 352687 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352687 - Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies - - Clinical group - - - - - - 272 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=272 - Congenital muscular dystrophy, Fukuyama type - - Malformation syndrome - - - - - - - - 899 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=899 - Walker-Warburg syndrome - - Disease - - - - - - - - 588 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=588 - Muscle-eye-brain disease - - Malformation syndrome - - - - - - - - 370997 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370997 - Muscle-eye-brain disease with bilateral multicystic leucodystrophy - - Disease - - - - - - - - - - - - 86823 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86823 - Lissencephaly with cerebellar hypoplasia - - Clinical group - - - - - - 100011 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100011 - Lissencephaly with cerebellar hypoplasia type A - - Malformation syndrome - - - - - - - - 100012 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100012 - Lissencephaly with cerebellar hypoplasia type B - - Malformation syndrome - - - - - - - - 100013 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100013 - Lissencephaly with cerebellar hypoplasia type C - - Malformation syndrome - - - - - - - - 100014 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100014 - Lissencephaly with cerebellar hypoplasia type D - - Malformation syndrome - - - - - - - - 100015 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100015 - Lissencephaly with cerebellar hypoplasia type E - - Malformation syndrome - - - - - - - - 100016 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100016 - Lissencephaly with cerebellar hypoplasia type F - - Malformation syndrome - - - - - - - - - - 102009 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=102009 - Classic lissencephaly - - Clinical group - - - - - - 572013 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572013 - Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome - - Malformation syndrome - - - - - - - - 2148 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2148 - Lissencephaly type 1 due to doublecortin gene mutation - - Disease - - - - - - - - 531 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=531 - Miller-Dieker syndrome - - Malformation syndrome - - - - - - - - 1084 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1084 - Isolated lissencephaly type 1 without known genetic defects - - Disease - - - - - - - - 95232 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95232 - Lissencephaly due to LIS1 mutation - - Disease - - - - - - - - - - 102010 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=102010 - Other syndrome with lissencephaly as a major feature - - Category - - - - - - 1528 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1528 - Craniotelencephalic dysplasia - - Malformation syndrome - - - - - - - - 2510 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2510 - Micro syndrome - - Malformation syndrome - - - - - - - - 2995 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2995 - Baraitser-Winter cerebrofrontofacial syndrome - - Malformation syndrome - - - - - - - - 452 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=452 - X-linked lissencephaly with abnormal genitalia - - Malformation syndrome - - - - - - - - - - 102011 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=102011 - Lissencephaly type 3 - - Clinical group - - - - - - 2671 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2671 - Neu-Laxova syndrome - - Malformation syndrome - - - - - - 583602 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=583602 - Neu-Laxova syndrome due to phosphoserine aminotransferase deficiency - - Etiological subtype - - - - - - - - 583607 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=583607 - Neu-Laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency - - Etiological subtype - - - - - - - - 583612 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=583612 - Neu-Laxova syndrome due to 3-phosphoserine phosphatase deficiency - - Etiological subtype - - - - - - - - - - 86821 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86821 - Lissencephaly type 3-familial fetal akinesia sequence syndrome - - Malformation syndrome - - - - - - - - 86822 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86822 - Lissencephaly type 3-metacarpal bone dysplasia syndrome - - Malformation syndrome - - - - - - - - - - 171680 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171680 - Lissencephaly due to TUBA1A mutation - - Malformation syndrome - - - - - - - - - - 50810 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50810 - Microlissencephaly-micromelia syndrome - - Malformation syndrome - - - - - - - - 86906 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86906 - Gelastic seizures with hypothalamic hamartoma - - Disease - - - - - - - - 99802 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99802 - Hemimegalencephaly - - Malformation syndrome - - - - - - - - 163209 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163209 - Non-syndromic cerebral malformation due to abnormal neuronal migration - - Category - - - - - - 2149 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2149 - Nodular neuronal heterotopia - - Morphological anomaly - - - - - - 98892 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98892 - Periventricular nodular heterotopia - - Clinical subtype - - - - - - - - 101029 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101029 - Sub-cortical nodular heterotopia - - Clinical subtype - - - - - - - - 101030 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101030 - Subependymal nodular heterotopia - - Clinical subtype - - - - - - - - - - 35981 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35981 - Polymicrogyria - - Clinical group - - - - - - 268940 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268940 - Bilateral polymicrogyria - - Morphological anomaly - - - - - - 98889 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98889 - Bilateral perisylvian polymicrogyria - - Clinical subtype - - - - - - - - 101070 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101070 - Bilateral frontoparietal polymicrogyria - - Clinical subtype - - - - - - - - 208441 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=208441 - Bilateral parasagittal parieto-occipital polymicrogyria - - Clinical subtype - - - - - - - - 208444 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=208444 - Bilateral frontal polymicrogyria - - Clinical subtype - - - - - - - - 208447 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=208447 - Bilateral generalized polymicrogyria - - Clinical subtype - - - - - - - - - - 268943 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268943 - Unilateral polymicrogyria - - Morphological anomaly - - - - - - 101071 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101071 - Unilateral hemispheric polymicrogyria - - Clinical subtype - - - - - - - - 268947 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268947 - Unilateral focal polymicrogyria - - Clinical subtype - - - - - - - - - - - - 99796 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99796 - Subcortical band heterotopia - - Morphological anomaly - - - - - - - - 268950 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268950 - Cerebral cortical dysplasia - - Clinical group - - - - - - 65683 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65683 - Isolated focal cortical dysplasia - - Disease - - - - - - 268961 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268961 - Isolated focal cortical dysplasia type I - - Clinical subtype - - - - - - 268973 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268973 - Isolated focal cortical dysplasia type Ia - - Histopathological subtype - - - - - - - - 268980 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268980 - Isolated focal cortical dysplasia type Ib - - Histopathological subtype - - - - - - - - 268987 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268987 - Isolated focal cortical dysplasia type Ic - - Histopathological subtype - - - - - - - - - - 268994 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268994 - Isolated focal cortical dysplasia type II - - Clinical subtype - - - - - - 269001 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269001 - Isolated focal cortical dysplasia type IIa - - Histopathological subtype - - - - - - - - 269008 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269008 - Isolated focal cortical dysplasia type IIb - - Histopathological subtype - - - - - - - - - - - - - - 280640 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280640 - Occipital pachygyria and polymicrogyria - - Malformation syndrome - - - - - - - - 300570 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300570 - Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation - - Disease - - - - - - - - 329329 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329329 - Autosomal recessive frontotemporal pachygyria - - Malformation syndrome - - - - - - - - 2798 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2798 - Pachygyria-intellectual disability-epilepsy syndrome - - Malformation syndrome - - - - - - - - - - 250972 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=250972 - Polymicrogyria with optic nerve hypoplasia - - Malformation syndrome - - - - - - - - 306558 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306558 - Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome - - Disease - - - - - - - - 352587 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352587 - Focal epilepsy-intellectual disability-cerebro-cerebellar malformation - - Disease - - - - - - - - 401959 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401959 - Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome - - Malformation syndrome - - - - - - - - 404437 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404437 - Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome - - Malformation syndrome - - - - - - - - 137831 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137831 - X-linked intellectual disability-cerebellar hypoplasia syndrome - - Disease - - - - - - - - 85278 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85278 - Christianson syndrome - - Malformation syndrome - - - - - - - - 98523 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98523 - Non-syndromic pontocerebellar hypoplasia - - Clinical group - - - - - - 2524 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2524 - Pontocerebellar hypoplasia type 2 - - Malformation syndrome - - - - - - - - 2254 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2254 - Pontocerebellar hypoplasia type 1 - - Malformation syndrome - - - - - - - - 97249 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97249 - Pontocerebellar hypoplasia type 3 - - Malformation syndrome - - - - - - - - 166063 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166063 - Pontocerebellar hypoplasia type 4 - - Malformation syndrome - - - - - - - - 166073 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166073 - Pontocerebellar hypoplasia type 6 - - Malformation syndrome - - - - - - - - 284339 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284339 - Pontocerebellar hypoplasia type 7 - - Malformation syndrome - - - - - - - - 324569 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324569 - Pontocerebellar hypoplasia type 8 - - Malformation syndrome - - - - - - - - 369920 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369920 - Pontocerebellar hypoplasia type 9 - - Malformation syndrome - - - - - - - - 411493 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411493 - Pontocerebellar hypoplasia type 10 - - Malformation syndrome - - - - - - - - 611256 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=611256 - Pontocerebellar hypoplasia type 12 - - Malformation syndrome - - - - - - - - 611247 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=611247 - Pontocerebellar hypoplasia type 11 - - Malformation syndrome - - - - - - - - 613267 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=613267 - Pontocerebellar hypoplasia type 13 - - Malformation syndrome - - - - - - - - 613274 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=613274 - Pontocerebellar hypoplasia type 14 - - Malformation syndrome - - - - - - - - - - - - 166487 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166487 - Cerebral diseases of vascular origin with epilepsy - - Category - - - - - - 3205 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3205 - Sturge-Weber syndrome - - Malformation syndrome - - - - - - - - 1062 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1062 - Hereditary neurocutaneous malformation - - Disease - - - - - - - - - - - - 183515 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183515 - Rare genetic medullar disease - - Category - - - - - - 2285 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2285 - Primary basilar invagination - - Morphological anomaly - - - - - - - - 2585 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2585 - Ataxia-pancytopenia syndrome - - Malformation syndrome - - - - - - - - 370034 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370034 - Familial syringomyelia - - Clinical subtype - - - - - - - - - - 183518 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183518 - Hereditary ataxia - - Category - - - - - - 502423 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=502423 - Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome - - Disease - - - - - - - - 99 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99 - Autosomal dominant cerebellar ataxia - - Category - - - - - - 94145 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94145 - Autosomal dominant cerebellar ataxia type I - - Clinical group - - - - - - 98772 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98772 - Spinocerebellar ataxia type 19/22 - - Disease - - - - - - - - 98773 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98773 - Spinocerebellar ataxia type 21 - - Disease - - - - - - - - 101108 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101108 - Spinocerebellar ataxia type 23 - - Disease - - - - - - - - 101109 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101109 - Spinocerebellar ataxia type 28 - - Disease - - - - - - - - 101110 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101110 - Spinocerebellar ataxia type 20 - - Disease - - - - - - - - 101111 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101111 - Spinocerebellar ataxia type 25 - - Disease - - - - - - - - 208513 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=208513 - Spinocerebellar ataxia type 29 - - Disease - - - - - - - - 276183 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276183 - Spinocerebellar ataxia type 32 - - Disease - - - - - - - - 276193 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276193 - Spinocerebellar ataxia type 35 - - Disease - - - - - - - - 276198 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276198 - Spinocerebellar ataxia type 36 - - Disease - - - - - - - - 314404 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314404 - Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome - - Disease - - - - - - - - 314647 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314647 - Non-progressive cerebellar ataxia with intellectual disability - - Disease - - - - - - - - 363710 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363710 - Spinocerebellar ataxia type 37 - - Disease - - - - - - - - 423275 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423275 - Spinocerebellar ataxia type 40 - - Disease - - - - - - - - 1955 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1955 - Spinocerebellar ataxia type 34 - - Disease - - - - - - - - 1171 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1171 - Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome - - Disease - - - - - - - - 98755 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98755 - Spinocerebellar ataxia type 1 - - Disease - - - - - - - - 98756 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98756 - Spinocerebellar ataxia type 2 - - Disease - - - - - - - - 98757 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98757 - Spinocerebellar ataxia type 3 - - Disease - - - - - - 276238 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276238 - Machado-Joseph disease type 1 - - Clinical subtype - - - - - - - - 276241 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276241 - Machado-Joseph disease type 2 - - Clinical subtype - - - - - - - - 276244 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276244 - Machado-Joseph disease type 3 - - Clinical subtype - - - - - - - - - - 98759 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98759 - Spinocerebellar ataxia type 17 - - Disease - - - - - - - - 98760 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98760 - Spinocerebellar ataxia type 8 - - Disease - - - - - - - - 98762 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98762 - Spinocerebellar ataxia type 12 - - Disease - - - - - - - - 98763 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98763 - Spinocerebellar ataxia type 14 - - Disease - - - - - - - - 98764 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98764 - Spinocerebellar ataxia type 27A - - Disease - - - - - - - - 98765 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98765 - Spinocerebellar ataxia type 4 - - Disease - - - - - - - - 98768 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98768 - Spinocerebellar ataxia type 13 - - Disease - - - - - - - - 98769 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98769 - Spinocerebellar ataxia type 15/16 - - Disease - - - - - - - - 98771 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98771 - Spinocerebellar ataxia type 18 - - Disease - - - - - - - - 497764 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=497764 - Spinocerebellar ataxia type 43 - - Disease - - - - - - - - 589515 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589515 - PUM1-associated developmental disability-ataxia-seizure syndrome - - Disease - - - - - - - - 589522 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589522 - Spinocerebellar ataxia type 46 - - Disease - - - - - - - - 631103 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=631103 - Spinocerebellar ataxia type 48 - - Disease - - - - - - - - 675216 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=675216 - Spinocerebellar ataxia type 27B - - Disease - - - - - - - - 631106 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=631106 - Spinocerebellar ataxia type 49 - - Disease - - - - - - - - - - 94148 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94148 - Autosomal dominant cerebellar ataxia type III - - Clinical group - - - - - - 589527 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589527 - Spinocerebellar ataxia type 45 - - Disease - - - - - - - - 631095 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=631095 - Spinocerebellar ataxia type 44 - - Disease - - - - - - - - 98758 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98758 - Spinocerebellar ataxia type 6 - - Disease - - - - - - - - 98766 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98766 - Spinocerebellar ataxia type 5 - - Disease - - - - - - - - 98767 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98767 - Spinocerebellar ataxia type 11 - - Disease - - - - - - - - 101112 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101112 - Spinocerebellar ataxia type 26 - - Disease - - - - - - - - 211017 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=211017 - Spinocerebellar ataxia type 30 - - Disease - - - - - - - - 217012 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217012 - Spinocerebellar ataxia type 31 - - Disease - - - - - - - - 423296 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423296 - Spinocerebellar ataxia type 38 - - Disease - - - - - - - - 458798 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=458798 - Spinocerebellar ataxia type 41 - - Disease - - - - - - - - 458803 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=458803 - Spinocerebellar ataxia type 42 - - Disease - - - - - - - - - - 94149 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94149 - Autosomal dominant cerebellar ataxia type IV - - Clinical group - - - - - - 101 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101 - Dentatorubral pallidoluysian atrophy - - Disease - - - - - - - - 98761 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98761 - Spinocerebellar ataxia type 10 - - Disease - - - - - - - - - - 208508 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=208508 - Autosomal dominant cerebellar ataxia type II - - Clinical group - - - - - - 94147 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94147 - Spinocerebellar ataxia type 7 - - Disease - - - - - - - - - - 642747 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642747 - PUM1-related cerebellar ataxia - - Disease - - - - - - - - - - 1178 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1178 - Ataxia-tapetoretinal degeneration syndrome - - Disease - - - - - - - - 1173 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1173 - Cerebellar ataxia-hypogonadism syndrome - - Disease - - - - - - - - 1180 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1180 - Ataxia-hypogonadism-choroidal dystrophy syndrome - - Disease - - - - - - - - 1185 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1185 - Spinocerebellar ataxia-dysmorphism syndrome - - Disease - - - - - - - - 1368 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1368 - Cataract-ataxia-deafness syndrome - - Disease - - - - - - - - 1399 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1399 - Richards-Rundle syndrome - - Malformation syndrome - - - - - - - - 2274 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2274 - Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome - - Disease - - - - - - - - 2579 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2579 - Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome - - Disease - - - - - - - - 2589 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2589 - Myoclonus-cerebellar ataxia-deafness syndrome - - Malformation syndrome - - - - - - - - 3177 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3177 - Spinocerebellar degeneration-corneal dystrophy syndrome - - Malformation syndrome - - - - - - - - 1172 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1172 - Autosomal recessive cerebellar ataxia - - Clinical group - - - - - - 88644 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88644 - Autosomal recessive ataxia, Beauce type - - Disease - - - - - - - - 98095 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98095 - Autosomal recessive congenital cerebellar ataxia - - Category - - - - - - 1170 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1170 - Autosomal recessive cerebelloparenchymal disorder type 3 - - Disease - - - - - - - - 1766 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1766 - Dysequilibrium syndrome - - Disease - - - - - - - - 83472 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83472 - CAMOS syndrome - - Malformation syndrome - - - - - - - - 94122 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94122 - Cerebellar ataxia, Cayman type - - Disease - - - - - - - - 140874 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140874 - Joubert syndrome and related disorders - - Category - - - - - - 2318 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2318 - Joubert syndrome with oculorenal defect - - Malformation syndrome - - - - - - - - 475 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=475 - Isolated Joubert syndrome - - Malformation syndrome - - - - - - - - 1454 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1454 - Joubert syndrome with hepatic defect - - Disease - - - - - - - - 2754 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2754 - Orofaciodigital syndrome type 6 - - Malformation syndrome - - - - - - - - 220493 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220493 - Joubert syndrome with ocular defect - - Malformation syndrome - - - - - - - - 220497 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220497 - Joubert syndrome with renal defect - - Malformation syndrome - - - - - - - - 397715 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397715 - Joubert syndrome with Jeune asphyxiating thoracic dystrophy - - Malformation syndrome - - - - - - - - - - 453521 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=453521 - Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency - - Disease - - - - - - - - 512260 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=512260 - Congenital cerebellar ataxia due to RNU12 mutation - - Disease - - - - - - - - - - 98096 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98096 - Autosomal recessive metabolic cerebellar ataxia - - Category - - - - - - 642965 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642965 - Autosomal recessive ataxia due to PEX2 deficiency - - Disease - - - - - - - - 96 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96 - Ataxia with vitamin E deficiency - - Disease - - - - - - - - 14 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=14 - Abetalipoproteinemia - - Disease - - - - - - - - 773 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=773 - Refsum disease - - Disease - - - - - - - - 909 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=909 - Cerebrotendinous xanthomatosis - - Disease - - - - - - - - 772 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=772 - Infantile Refsum disease - - Disease - - - - - - - - 94125 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94125 - Recessive mitochondrial ataxia syndrome - - Disease - - - - - - - - 247815 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247815 - Autosomal recessive ataxia due to PEX10 deficiency - - Disease - - - - - - - - 352641 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352641 - Autosomal recessive cerebellar ataxia with late-onset spasticity - - Disease - - - - - - - - 363429 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363429 - Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome - - Disease - - - - - - 324262 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324262 - Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency - - Clinical subtype - - - - - - - - 363432 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363432 - Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency - - Clinical subtype - - - - - - - - - - 95433 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95433 - Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome - - Disease - - - - - - - - 642954 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642954 - Autosomal recessive ataxia due to PEX16 deficiency - - Disease - - - - - - - - - - 98097 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98097 - Autosomal recessive cerebellar ataxia due to a DNA repair defect - - Category - - - - - - 100 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100 - Ataxia-telangiectasia - - Disease - - - - - - - - 1168 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1168 - Ataxia-oculomotor apraxia type 1 - - Disease - - - - - - - - 64753 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64753 - Spinocerebellar ataxia with axonal neuropathy type 2 - - Disease - - - - - - - - 94124 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94124 - Spinocerebellar ataxia with axonal neuropathy type 1 - - Disease - - - - - - - - 220295 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220295 - Xeroderma pigmentosum-Cockayne syndrome complex - - Disease - - - - - - - - 251347 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251347 - Ataxia-telangiectasia-like disorder - - Disease - - - - - - - - 910 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=910 - Xeroderma pigmentosum - - Disease - - - - - - - - 420741 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420741 - RIDDLE syndrome - - Malformation syndrome - - - - - - - - - - 98098 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98098 - Autosomal recessive degenerative and progressive cerebellar ataxia - - Category - - - - - - 95 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95 - Friedreich ataxia - - Disease - - - - - - - - 1177 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1177 - Early-onset cerebellar ataxia with retained tendon reflexes - - Disease - - - - - - - - 1186 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1186 - Infantile-onset spinocerebellar ataxia - - Disease - - - - - - - - 559 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=559 - Marinesco-Sjögren syndrome - - Disease - - - - - - - - 48431 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=48431 - Congenital cataracts-facial dysmorphism-neuropathy syndrome - - Malformation syndrome - - - - - - - - 88628 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88628 - Posterior column ataxia-retinitis pigmentosa syndrome - - Disease - - - - - - - - 694922 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=694922 - Childhood-onset stress-induced neurodegenerative ataxia-seizure syndrome - - Disease - - - - - - - - 496756 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=496756 - Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome - - Disease - - - - - - - - - - 98099 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98099 - Autosomal recessive syndromic cerebellar ataxia - - Category - - - - - - 459033 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=459033 - Ataxia-oculomotor apraxia type 4 - - Disease - - - - - - - - 95434 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95434 - Autosomal recessive cerebellar ataxia-movement disorder syndrome - - Disease - - - - - - - - 284271 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284271 - Autosomal recessive cerebellar ataxia-psychomotor delay syndrome - - Disease - - - - - - - - 2074 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2074 - Gemignani syndrome - - Malformation syndrome - - - - - - - - 504476 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=504476 - Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome - - Disease - - - - - - - - 466794 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466794 - Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome - - Disease - - - - - - - - - - 139485 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139485 - Autosomal recessive ataxia due to ubiquinone deficiency - - Disease - - - - - - - - 284289 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284289 - Adult-onset autosomal recessive cerebellar ataxia - - Disease - - - - - - - - 284324 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284324 - Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia - - Disease - - - - - - - - 284332 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284332 - Infantile-onset autosomal recessive nonprogressive cerebellar ataxia - - Disease - - - - - - - - 352403 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352403 - Spectrin-associated autosomal recessive cerebellar ataxia - - Disease - - - - - - - - 404481 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404481 - Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome - - Clinical group - - - - - - 284282 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284282 - Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency - - Disease - - - - - - - - 404493 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404493 - Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency - - Disease - - - - - - - - 404499 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404499 - Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency - - Disease - - - - - - - - - - 412057 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=412057 - Autosomal recessive cerebellar ataxia due to STUB1 deficiency - - Disease - - - - - - - - - - 99013 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99013 - Spastic paraplegia type 7 - - Disease - - - - - - - - 199343 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199343 - EAST syndrome - - Disease - - - - - - - - 211062 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=211062 - Hereditary episodic ataxia - - Category - - - - - - 97 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97 - Familial paroxysmal ataxia - - Disease - - - - - - - - 37612 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=37612 - Episodic ataxia type 1 - - Disease - - - - - - - - 79135 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79135 - Episodic ataxia type 3 - - Disease - - - - - - - - 79136 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79136 - Episodic ataxia type 4 - - Disease - - - - - - - - 209967 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209967 - Episodic ataxia type 6 - - Disease - - - - - - - - 209970 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209970 - Episodic ataxia type 7 - - Disease - - - - - - - - 211067 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=211067 - Episodic ataxia type 5 - - Disease - - - - - - - - 401953 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401953 - Episodic ataxia with slurred speech - - Disease - - - - - - - - - - 247765 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247765 - X-linked cerebellar ataxia - - Category - - - - - - 1175 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1175 - X-linked progressive cerebellar ataxia - - Disease - - - - - - - - 1187 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1187 - Lethal ataxia with deafness and optic atrophy - - Disease - - - - - - - - 1188 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1188 - Ataxia-deafness-intellectual disability syndrome - - Malformation syndrome - - - - - - - - 2802 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2802 - X-linked sideroblastic anemia and spinocerebellar ataxia - - Disease - - - - - - - - 85278 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85278 - Christianson syndrome - - Malformation syndrome - - - - - - - - 85292 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85292 - X-linked spinocerebellar ataxia type 4 - - Disease - - - - - - - - 85297 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85297 - X-linked spinocerebellar ataxia type 3 - - Malformation syndrome - - - - - - - - 85338 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85338 - X-linked intellectual disability-ataxia-apraxia syndrome - - Disease - - - - - - - - 93256 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93256 - Fragile X-associated tremor/ataxia syndrome - - Malformation syndrome - - - - - - - - 314978 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314978 - X-linked non progressive cerebellar ataxia - - Disease - - - - - - - - - - 316226 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=316226 - Spastic ataxia - - Clinical group - - - - - - 316235 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=316235 - Autosomal dominant spastic ataxia - - Category - - - - - - 1182 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1182 - Spastic ataxia with congenital miosis - - Disease - - - - - - - - 251282 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251282 - Autosomal dominant spastic ataxia type 1 - - Disease - - - - - - - - - - 316240 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=316240 - Autosomal recessive spastic ataxia - - Category - - - - - - 98 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98 - Autosomal recessive spastic ataxia of Charlevoix-Saguenay - - Disease - - - - - - - - 2572 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2572 - Spastic ataxia-corneal dystrophy syndrome - - Disease - - - - - - - - 254343 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254343 - Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome - - Disease - - - - - - - - 313772 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313772 - Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome - - Disease - - - - - - - - 314603 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314603 - Autosomal recessive spastic ataxia with leukoencephalopathy - - Disease - - - - - - - - 557056 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=557056 - Spastic ataxia-dysarthria due to glutaminase deficiency - - Disease - - - - - - - - 527497 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=527497 - NKX6-2-related autosomal recessive hypomyelinating leukodystrophy - - Disease - - - - - - - - - - 401866 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401866 - Childhood-onset spasticity with hyperglycinemia - - Disease - - - - - - - - - - 445062 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=445062 - Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome - - Disease - - - - - - - - 2672 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2672 - Neuhauser-Eichner-Opitz syndrome - - Malformation syndrome - - - - - - - - 1184 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1184 - Ataxia-photosensitivity-short stature syndrome - - Malformation syndrome - - - - - - - - 1236 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1236 - Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome - - Malformation syndrome - - - - - - - - 447896 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447896 - Tremor-ataxia-central hypomyelination syndrome - - Clinical subtype - - - - - - - - 599376 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=599376 - Hypomyelination of early myelinating structures - - Disease - - - - - - - - 572543 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572543 - RFVT2-related riboflavin transporter deficiency - - Clinical subtype - - - - - - - - - - 183521 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183521 - Rare genetic movement disorder - - Category - - - - - - 3197 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3197 - Hereditary hyperekplexia - - Disease - - - - - - - - 163985 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163985 - Hyperekplexia-epilepsy syndrome - - Disease - - - - - - - - 238722 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238722 - Familial congenital mirror movements - - Disease - - - - - - - - 496916 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=496916 - Rare genetic hyperkinetic movement disorder - - Category - - - - - - 684240 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=684240 - Neurodevelopmental disorder-spasticity-movement disorder-epileptic syndrome - - Malformation syndrome - - - - - - - - 592564 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=592564 - GNAO1-related developmental delay-seizures-movement disorder spectrum - - Disease - - - - - - - - 306719 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306719 - Neurodegenerative disease with chorea - - Category - - - - - - 494541 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=494541 - Childhood-onset benign chorea with striatal involvement - - Disease - - - - - - - - 399 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399 - Huntington disease - - Disease - - - - - - - - 1429 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1429 - Benign hereditary chorea - - Disease - - - - - - - - 157941 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157941 - Huntington disease-like 1 - - Disease - - - - - - - - 209905 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209905 - Brain-lung-thyroid syndrome - - Disease - - - - - - - - 248111 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=248111 - Juvenile Huntington disease - - Disease - - - - - - - - 401901 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401901 - Huntington disease-like syndrome due to C9ORF72 expansions - - Disease - - - - - - - - - - 306765 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306765 - Motor stereotypies - - Category - - - - - - 561854 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=561854 - FOXG1 syndrome - - Disease - - - - - - 598164 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=598164 - FOXG1 syndrome due to intragenic alteration - - Clinical subtype - - - - - - - - 261144 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261144 - FOXG1 syndrome due to 14q12 microdeletion - - Clinical subtype - - - - - - - - - - 505652 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=505652 - CDKL5-deficiency disorder - - Disease - - - - - - - - 778 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=778 - Rett syndrome - - Disease - - - - - - - - 908 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=908 - Fragile X syndrome - - Malformation syndrome - - - - - - - - 904 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=904 - Williams syndrome - - Malformation syndrome - - - - - - - - 3095 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3095 - Atypical Rett syndrome - - Disease - - - - - - - - - - 307061 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=307061 - Rare genetic tremor disorder - - Category - - - - - - 905 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=905 - Wilson disease - - Disease - - - - - - - - 53372 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53372 - Hereditary geniospasm - - Disease - - - - - - - - 66633 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66633 - Sensorineural hearing loss-early graying-essential tremor syndrome - - Disease - - - - - - - - 93256 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93256 - Fragile X-associated tremor/ataxia syndrome - - Malformation syndrome - - - - - - - - 457212 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457212 - Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome - - Disease - - - - - - - - - - 307064 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=307064 - Rare genetic myoclonus - - Category - - - - - - 306750 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306750 - Primary myoclonus - - Category - - - - - - 36899 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36899 - Myoclonus-dystonia syndrome - - Disease - - - - - - - - 86814 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86814 - Familial adult myoclonic epilepsy - - Disease - - - - - - - - 319189 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319189 - Familial cortical myoclonus - - Disease - - - - - - - - 221083 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221083 - Hemifacial spasm - - Disease - - - - - - - - - - 307067 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=307067 - Rare genetic disease with myoclonus as a major feature - - Category - - - - - - 306756 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306756 - Epilepsy and/or ataxia with myoclonus as a major feature - - Category - - - - - - 306759 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306759 - Non progressive epilepsy and/or ataxia with myoclonus as a major feature - - Category - - - - - - 307 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=307 - Juvenile myoclonic epilepsy - - Disease - - - - - - - - - - 98261 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98261 - Progressive myoclonic epilepsy - - Clinical group - - - - - - 551 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=551 - MERRF - - Disease - - - - - - - - 501 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=501 - Lafora disease - - Disease - - - - - - - - 308 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308 - Progressive myoclonic epilepsy type 1 - - Disease - - - - - - - - 228346 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228346 - CLN3 disease - - Disease - - - - - - 699780 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699780 - Juvenile CLN3 disease - - Clinical subtype - - - - - - - - 699796 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699796 - Protracted juvenile CLN3 disease - - Clinical subtype - - - - - - - - - - 228343 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228343 - CLN4 disease - - Disease - - - - - - - - 228360 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228360 - CLN5 disease - - Disease - - - - - - 699802 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699802 - Late infantile CLN5 disease - - Clinical subtype - - - - - - - - 699807 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699807 - Juvenile CLN5 disease - - Clinical subtype - - - - - - - - 699812 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699812 - Adult CLN5 disease - - Clinical subtype - - - - - - - - - - 85110 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85110 - Familial encephalopathy with neuroserpin inclusion bodies - - Disease - - - - - - 530303 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=530303 - Progressive dementia with neuroserpin inclusion bodies - - Clinical subtype - - - - - - - - 530298 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=530298 - Progressive myoclonic epilepsy with neuroserpin inclusion bodies - - Clinical subtype - - - - - - - - - - 228329 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228329 - CLN1 disease - - Disease - - - - - - 699718 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699718 - Infantile CLN1 disease - - Clinical subtype - - - - - - - - 699739 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699739 - Juvenile CLN1 disease - - Clinical subtype - - - - - - - - 699745 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699745 - Adult CLN1 disease - - Clinical subtype - - - - - - - - 699734 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699734 - Late infantile CLN1 disease - - Clinical subtype - - - - - - - - - - 228349 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228349 - CLN2 disease - - Disease - - - - - - 699751 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699751 - Infantile CLN2 disease - - Clinical subtype - - - - - - - - 699769 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699769 - Juvenile CLN2 disease - - Clinical subtype - - - - - - - - 699761 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699761 - Late infantile CLN2 disease - - Clinical subtype - - - - - - - - - - 280620 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280620 - Progressive myoclonic epilepsy type 6 - - Disease - - - - - - - - 324290 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324290 - PRDM8-related progressive myoclonus epilepsy - - Disease - - - - - - - - 402082 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=402082 - Progressive myoclonic epilepsy type 5 - - Disease - - - - - - - - 424027 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424027 - Progressive myoclonic epilepsy type 8 - - Disease - - - - - - - - 435438 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435438 - Progressive myoclonic epilepsy type 7 - - Disease - - - - - - - - 228363 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228363 - CLN6 disease - - Disease - - - - - - 700477 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700477 - Adult CLN6 disease - - Clinical subtype - - - - - - - - 700467 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700467 - Late infantile CLN6 disease - - Clinical subtype - - - - - - - - 700472 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700472 - Juvenile CLN6 disease - - Clinical subtype - - - - - - - - - - 228366 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228366 - CLN7 disease - - Disease - - - - - - - - 228354 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228354 - CLN8 disease - - Disease - - - - - - 700484 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700484 - Late infantile CLN8 disease - - Clinical subtype - - - - - - - - 1947 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1947 - Northern epilepsy - - Clinical subtype - - - - - - - - - - 228337 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228337 - CLN10 disease - - Disease - - - - - - 700487 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700487 - Congenital CLN10 disease - - Clinical subtype - - - - - - - - 700492 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700492 - Late infantile CLN10 disease - - Clinical subtype - - - - - - - - 700497 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700497 - Juvenile CLN10 disease - - Clinical subtype - - - - - - - - - - 352709 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352709 - CLN13 disease - - Disease - - - - - - - - 263516 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263516 - Progressive myoclonic epilepsy type 3 - - Disease - - - - - - - - 457265 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457265 - Progressive myoclonic epilepsy type 9 - - Disease - - - - - - - - 314629 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314629 - CLN11 disease - - Disease - - - - - - - - 2590 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2590 - Spinal muscular atrophy-progressive myoclonic epilepsy syndrome - - Disease - - - - - - - - - - - - - - - - 391799 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391799 - Rare genetic dystonia - - Category - - - - - - 98203 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98203 - Combined dystonia - - Category - - - - - - 200037 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=200037 - Paroxysmal dystonia - - Clinical group - - - - - - 1431 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1431 - Paroxysmal dyskinesia - - Clinical group - - - - - - 31709 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=31709 - Infantile convulsions and choreoathetosis - - Disease - - - - - - - - 98809 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98809 - Paroxysmal kinesigenic dyskinesia - - Disease - - - - - - - - 98810 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98810 - Paroxysmal non-kinesigenic dyskinesia - - Disease - - - - - - - - 98811 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98811 - Paroxysmal exertion-induced dyskinesia - - Disease - - - - - - - - - - 53583 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53583 - Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity - - Disease - - - - - - - - 71518 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71518 - Benign paroxysmal torticollis of infancy - - Disease - - - - - - - - - - 391711 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391711 - Persistent combined dystonia - - Clinical group - - - - - - 589618 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589618 - Dystonia 28 - - Disease - - - - - - - - 521406 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521406 - Dystonia-parkinsonism-hypermanganesemia syndrome - - Disease - - - - - - - - 255 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=255 - Dopa-responsive dystonia - - Clinical group - - - - - - 101150 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101150 - Autosomal recessive dopa-responsive dystonia - - Disease - - - - - - - - 70594 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70594 - Dopa-responsive dystonia due to sepiapterin reductase deficiency - - Disease - - - - - - - - 98808 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98808 - Autosomal dominant dopa-responsive dystonia - - Disease - - - - - - - - - - 36899 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36899 - Myoclonus-dystonia syndrome - - Disease - - - - - - - - 53351 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53351 - X-linked dystonia-parkinsonism - - Disease - - - - - - - - 71517 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71517 - Rapid-onset dystonia-parkinsonism - - Disease - - - - - - - - 199351 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199351 - Adult-onset dystonia-parkinsonism - - Disease - - - - - - - - 210571 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210571 - Dystonia 16 - - Disease - - - - - - - - 238455 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238455 - Infantile dystonia-parkinsonism - - Disease - - - - - - - - 352649 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352649 - Brain dopamine-serotonin vesicular transport disease - - Disease - - - - - - - - 364063 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=364063 - Infantile epileptic-dyskinetic encephalopathy - - Disease - - - - - - - - 370109 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370109 - Ataxia-telangiectasia variant - - Disease - - - - - - - - 412217 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=412217 - Dystonia-aphonia syndrome - - Disease - - - - - - - - 508093 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508093 - MEPAN syndrome - - Malformation syndrome - - - - - - - - 508523 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508523 - Hyperphenylalaninemia due to DNAJC12 deficiency - - Disease - - - - - - - - - - - - 156159 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156159 - Isolated dystonia - - Category - - - - - - 1866 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1866 - Focal, segmental or multifocal dystonia - - Category - - - - - - 93958 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93958 - Oromandibular dystonia - - Disease - - - - - - - - 93964 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93964 - Blepharospasm-oromandibular dystonia syndrome - - Disease - - - - - - - - 98805 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98805 - Primary dystonia, DYT4 type - - Disease - - - - - - - - 98807 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98807 - Primary dystonia, DYT13 type - - Disease - - - - - - - - 99657 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99657 - Primary dystonia, DYT2 type - - Disease - - - - - - - - 329466 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329466 - Autosomal dominant focal dystonia, DYT25 type - - Disease - - - - - - - - 370103 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370103 - Primary dystonia, DYT17 type - - Disease - - - - - - - - 420485 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420485 - Cranio-cervical dystonia with laryngeal and upper-limb involvement - - Disease - - - - - - - - 420492 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420492 - Adult-onset cervical dystonia, DYT23 type - - Disease - - - - - - - - 464440 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464440 - Primary dystonia, DYT27 type - - Disease - - - - - - - - 494526 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=494526 - Infantile-onset generalized dyskinesia with orofacial involvement - - Disease - - - - - - - - - - 376724 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=376724 - Generalized isolated dystonia - - Category - - - - - - 256 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=256 - Early-onset generalized limb-onset dystonia - - Disease - - - - - - - - 98806 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98806 - Primary dystonia, DYT6 type - - Disease - - - - - - - - 306734 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306734 - Primary dystonia, DYT21 type - - Disease - - - - - - - - - - - - 370106 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370106 - Rare disorder with dystonia and other neurologic or systemic manifestation - - Category - - - - - - 905 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=905 - Wilson disease - - Disease - - - - - - - - 3464 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3464 - Woodhouse-Sakati syndrome - - Disease - - - - - - - - 79107 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79107 - Developmental malformations-deafness-dystonia syndrome - - Malformation syndrome - - - - - - - - 369939 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369939 - Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome - - Malformation syndrome - - - - - - - - 497906 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=497906 - Childhood-onset basal ganglia degeneration syndrome - - Disease - - - - - - - - 459033 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=459033 - Ataxia-oculomotor apraxia type 4 - - Disease - - - - - - - - 597623 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=597623 - IRF2BPL-related regressive neurodevelopmental disorder-dystonia-seizures syndrome - - Disease - - - - - - - - 660017 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=660017 - Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome - - Disease - - - - - - 660012 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=660012 - Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to a NR4A2 point mutation - - Etiological subtype - - - - - - - - 1617 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1617 - Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to 2q24 microdeletion - - Etiological subtype - - - - - - - - - - - - - - 522077 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=522077 - Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome - - Disease - - - - - - - - - - 306768 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306768 - Rare paroxysmal movement disorder - - Category - - - - - - 1179 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1179 - Benign paroxysmal tonic upgaze of childhood with ataxia - - Disease - - - - - - - - 200037 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=200037 - Paroxysmal dystonia - - Clinical group - - - - - - 1431 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1431 - Paroxysmal dyskinesia - - Clinical group - - - - - - 31709 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=31709 - Infantile convulsions and choreoathetosis - - Disease - - - - - - - - 98809 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98809 - Paroxysmal kinesigenic dyskinesia - - Disease - - - - - - - - 98810 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98810 - Paroxysmal non-kinesigenic dyskinesia - - Disease - - - - - - - - 98811 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98811 - Paroxysmal exertion-induced dyskinesia - - Disease - - - - - - - - - - 53583 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53583 - Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity - - Disease - - - - - - - - 71518 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71518 - Benign paroxysmal torticollis of infancy - - Disease - - - - - - - - - - 324588 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324588 - Familial dyskinesia and facial myokymia - - Disease - - - - - - - - - - 307052 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=307052 - Rare genetic parkinsonian disorder - - Category - - - - - - 71517 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71517 - Rapid-onset dystonia-parkinsonism - - Disease - - - - - - - - 307055 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=307055 - Rare parkinsonian syndrome due to genetic neurodegenerative disease - - Category - - - - - - 2828 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2828 - Young-onset Parkinson disease - - Disease - - - - - - - - 2379 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2379 - Early-onset parkinsonism-intellectual disability syndrome - - Disease - - - - - - - - 53351 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53351 - X-linked dystonia-parkinsonism - - Disease - - - - - - - - 171695 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171695 - Parkinsonian-pyramidal syndrome - - Disease - - - - - - - - 178509 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178509 - Perry syndrome - - Disease - - - - - - - - 199351 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199351 - Adult-onset dystonia-parkinsonism - - Disease - - - - - - - - 210571 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210571 - Dystonia 16 - - Disease - - - - - - - - 228169 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228169 - Autosomal dominant striatal neurodegeneration - - Disease - - - - - - - - 238455 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238455 - Infantile dystonia-parkinsonism - - Disease - - - - - - - - 306669 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306669 - Hemiparkinsonism-hemiatrophy syndrome - - Disease - - - - - - - - 514980 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=514980 - ATP13A2-related parkinsonism - - Clinical group - - - - - - 314632 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314632 - CLN12 disease - - Disease - - - - - - - - 306674 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306674 - Kufor-Rakeb syndrome - - Disease - - - - - - - - - - 309854 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309854 - Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome - - Disease - - - - - - - - 363654 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363654 - X-linked parkinsonism-spasticity syndrome - - Disease - - - - - - - - 391411 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391411 - Atypical juvenile parkinsonism - - Disease - - - - - - - - 411602 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411602 - Hereditary late-onset Parkinson disease - - Disease - - - - - - - - 1980 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1980 - Bilateral striopallidodentate calcinosis - - Disease - - - - - - - - 611237 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=611237 - Parkinsonism with polyneuropathy - - Disease - - - - - - - - - - - - 307058 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=307058 - Miscellaneous movement disorder due to genetic neurodegenerative disease - - Category - - - - - - 385 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=385 - Neurodegeneration with brain iron accumulation - - Clinical group - - - - - - 3464 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3464 - Woodhouse-Sakati syndrome - - Disease - - - - - - - - 48818 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=48818 - Aceruloplasminemia - - Disease - - - - - - - - 157846 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157846 - Neuroferritinopathy - - Disease - - - - - - - - 157850 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157850 - Pantothenate kinase-associated neurodegeneration - - Disease - - - - - - 216866 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216866 - Classic pantothenate kinase-associated neurodegeneration - - Clinical subtype - - - - - - - - 216873 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216873 - Atypical pantothenate kinase-associated neurodegeneration - - Clinical subtype - - - - - - - - - - 289560 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289560 - Mitochondrial membrane protein-associated neurodegeneration - - Disease - - - - - - - - 306674 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306674 - Kufor-Rakeb syndrome - - Disease - - - - - - - - 329284 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329284 - Beta-propeller protein-associated neurodegeneration - - Disease - - - - - - - - 329303 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329303 - PLA2G6-associated neurodegeneration - - Clinical group - - - - - - 35069 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35069 - Infantile neuroaxonal dystrophy - - Disease - - - - - - - - 199351 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199351 - Adult-onset dystonia-parkinsonism - - Disease - - - - - - - - - - 329308 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329308 - Fatty acid hydroxylase-associated neurodegeneration - - Disease - - - - - - - - 397725 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397725 - COASY protein-associated neurodegeneration - - Disease - - - - - - - - 496756 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=496756 - Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome - - Disease - - - - - - - - - - 1576 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1576 - Infantile bilateral striatal necrosis - - Clinical group - - - - - - 225147 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=225147 - Sporadic infantile bilateral striatal necrosis - - Disease - - - - - - - - 225154 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=225154 - Familial infantile bilateral striatal necrosis - - Disease - - - - - - - - - - 98759 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98759 - Spinocerebellar ataxia type 17 - - Disease - - - - - - - - 157946 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157946 - Huntington disease-like 3 - - Disease - - - - - - - - 263440 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263440 - Neuroacanthocytosis - - Clinical group - - - - - - 2388 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2388 - Choreoacanthocytosis - - Disease - - - - - - - - 59306 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=59306 - McLeod neuroacanthocytosis syndrome - - Disease - - - - - - - - 98934 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98934 - Huntington disease-like 2 - - Disease - - - - - - - - 157850 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157850 - Pantothenate kinase-associated neurodegeneration - - Disease - - - - - - 216866 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216866 - Classic pantothenate kinase-associated neurodegeneration - - Clinical subtype - - - - - - - - 216873 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216873 - Atypical pantothenate kinase-associated neurodegeneration - - Clinical subtype - - - - - - - - - - - - 282166 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=282166 - Inherited Creutzfeldt-Jakob disease - - Disease - - - - - - - - 306708 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306708 - Frontotemporal neurodegeneration with movement disorder - - Category - - - - - - 683 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=683 - Progressive supranuclear palsy - - Disease - - - - - - 99750 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99750 - Atypical progressive supranuclear palsy syndrome - - Clinical subtype - - - - - - 240085 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=240085 - Progressive supranuclear palsy-predominant parkinsonism syndrome - - Clinical subtype - - - - - - - - 240094 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=240094 - Progressive supranuclear palsy-pure akinesia with gait freezing syndrome - - Clinical subtype - - - - - - - - 240103 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=240103 - Progressive supranuclear palsy-corticobasal syndrome - - Clinical subtype - - - - - - - - 240112 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=240112 - Progressive supranuclear palsy-progressive non-fluent aphasia syndrome - - Clinical subtype - - - - - - - - - - 240071 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=240071 - Classic progressive supranuclear palsy syndrome - - Clinical subtype - - - - - - - - - - 454887 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=454887 - Corticobasal syndrome - - Disease - - - - - - - - 100070 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100070 - Progressive non-fluent aphasia - - Disease - - - - - - - - 275864 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275864 - Behavioral variant of frontotemporal dementia - - Disease - - - - - - - - 275872 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275872 - Frontotemporal dementia with motor neuron disease - - Disease - - - - - - - - - - 401768 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401768 - Proximal myopathy with extrapyramidal signs - - Disease - - - - - - - - 500180 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500180 - Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder - - Disease - - - - - - - - - - 369847 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369847 - Intellectual disability-hyperkinetic movement-truncal ataxia syndrome - - Disease - - - - - - - - - - 183757 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183757 - Rare genetic intellectual disability - - Category - - - - - - 101685 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101685 - Rare non-syndromic intellectual disability - - Disease - - - - - - 777 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=777 - X-linked non-syndromic intellectual disability - - Etiological subtype - - - - - - - - 88616 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88616 - Autosomal recessive non-syndromic intellectual disability - - Etiological subtype - - - - - - - - 178469 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178469 - Autosomal dominant non-syndromic intellectual disability - - Etiological subtype - - - - - - - - - - 183763 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183763 - Rare genetic syndromic intellectual disability - - Category - - - - - - 611327 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=611327 - Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability - - Category - - - - - - 314555 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314555 - Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome - - Malformation syndrome - - - - - - - - 662829 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662829 - Intellectual disability-speech delay-dysmorphic features-T cell abnormalities syndrome - - Disease - - - - - - - - 662189 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662189 - Neurodevelopmental disorder-brain malformation-facial dysmorphism-brachydactyly syndrome - - Malformation syndrome - - - - - - - - 662198 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662198 - Neurodevelopmental delay-intellectual disability-skeletal defects syndrome - - Malformation syndrome - - - - - - - - 662207 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662207 - Neurodevelopmental delay-brain malformations-skeletal defects-intellectual disability syndrome - - Malformation syndrome - - - - - - - - 656130 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=656130 - PBX1-related congenital anomalies of kidney-urinary tract syndrome - - Disease - - - - - - - - 656135 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=656135 - Intellectual disability-cupped ears syndrome - - Disease - - - - - - - - 653712 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=653712 - CHD4-related neurodevelopmental disorder - - Disease - - - - - - - - 653767 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=653767 - Jansen-de Vries syndrome - - Disease - - - - - - - - 658540 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=658540 - 16q22 deletion syndrome - - Malformation syndrome - - - - - - - - 658843 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=658843 - Developmental delay-ataxia-hypotonia-facial dysmorphism syndrome - - Malformation syndrome - - - - - - - - 659702 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=659702 - Intrauterine growth retardation-micrognathia-short stature-facial dysmorphism-rhizomelic shortening syndrome - - Malformation syndrome - - - - - - - - 659975 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=659975 - Sensorineural hearing loss-spastic quadriplegia-intellectual disability syndrome - - Malformation syndrome - - - - - - - - 659904 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=659904 - Multiple congenital anomalies-neurodevelopmental delay-ocular abnormalities syndrome - - Malformation syndrome - - - - - - - - 660021 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=660021 - Orofacial clefting-cardiac anomalies-facial dysmorphism syndrome - - Malformation syndrome - - - - - - - - 662762 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662762 - Motor delay-microcephaly-speech impairment-ocular abnormalities syndrome - - Malformation syndrome - - - - - - - - 662175 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662175 - Macrocephaly-congenital heart disease-facial dysmorphism-intellectual disability syndrome - - Malformation syndrome - - - - - - - - 662179 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662179 - Microcephaly-hearing loss-facial dysmorphism-intellectual disability syndrome - - Malformation syndrome - - - - - - - - 646278 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=646278 - CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome - - Disease - - - - - - - - 675775 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=675775 - Severe congenital myelofibrosis-pancytopenia-intellectual disability-neurologic and ophthalmic abnormalities syndrome - - Disease - - - - - - - - 652519 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=652519 - Cleft palate-congenital heart defect-intellectual disability syndrome - - Disease - - - - - - 652514 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=652514 - Cleft palate-congenital heart defect-intellectual disability syndrome due to MEIS2 mutation - - Clinical subtype - - - - - - - - 261190 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261190 - Cleft palate-congenital heart defect-intellectual disability syndrome due to 15q14 microdeletion - - Clinical subtype - - - - - - - - - - 611201 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=611201 - Oculogastrointestinal-neurodevelopmental syndrome - - Malformation syndrome - - - - - - - - 528 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=528 - Congenital generalized lipodystrophy - - Disease - - - - - - 696289 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=696289 - Congenital generalized lipodystrophy type 2 - - Clinical subtype - - - - - - - - 696242 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=696242 - PPARG-associated congenital generalized lipodystrophy - - Clinical subtype - - - - - - - - 696206 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=696206 - Congenital generalized lipodystrophy type 3 - - Clinical subtype - - - - - - - - 696189 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=696189 - Congenital generalized lipodystrophy type 1 - - Clinical subtype - - - - - - - - 228429 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228429 - Congenital generalized lipodystrophy type 4 - - Clinical subtype - - - - - - - - - - 475 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=475 - Isolated Joubert syndrome - - Malformation syndrome - - - - - - - - 2052 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2052 - Fraser syndrome - - Malformation syndrome - - - - - - - - 251019 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251019 - 2q32q33 deletion syndrome - - Malformation syndrome - - - - - - - - 3472 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3472 - Yunis-Varon syndrome - - Malformation syndrome - - - - - - - - 110 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=110 - Bardet-Biedl syndrome - - Disease - - - - - - - - 50815 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50815 - Branchiogenic deafness syndrome - - Malformation syndrome - - - - - - - - 52022 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52022 - Potocki-Shaffer syndrome - - Malformation syndrome - - - - - - - - 65759 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65759 - Carpenter syndrome - - Malformation syndrome - - - - - - - - 97360 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97360 - Robinow syndrome - - Malformation syndrome - - - - - - 1507 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1507 - Autosomal recessive Robinow syndrome - - Clinical subtype - - - - - - - - 3107 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3107 - Autosomal dominant Robinow syndrome - - Clinical subtype - - - - - - - - - - 99741 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99741 - King-Denborough syndrome - - Malformation syndrome - - - - - - - - 276630 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276630 - Symptomatic form of Coffin-Lowry syndrome in female carriers - - Malformation syndrome - - - - - - - - 280679 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280679 - Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome - - Disease - - - - - - - - 289553 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289553 - Dysmorphism-conductive hearing loss-heart defect syndrome - - Malformation syndrome - - - - - - - - 436003 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436003 - Contractures-developmental delay-Pierre Robin syndrome - - Malformation syndrome - - - - - - - - 494439 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=494439 - Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome - - Malformation syndrome - - - - - - - - 496693 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=496693 - Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome - - Malformation syndrome - - - - - - - - 502430 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=502430 - Weiss-Kruszka Syndrome - - Malformation syndrome - - - - - - - - 502437 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=502437 - 4q25 proximal deletion syndrome - - Malformation syndrome - - - - - - - - 589856 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589856 - Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome - - Malformation syndrome - - - - - - - - 99812 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99812 - LIG4 syndrome - - Disease - - - - - - - - 610569 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=610569 - KIAA1109-related early lethal congenital brain malformations-arthrogryposis syndrome - - Disease - - - - - - - - 611207 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=611207 - Spondyloepiphyseal dysplasia-sensorineural hearing loss-intellectual disability-Leber congenital amaurosis syndrome - - Clinical syndrome - - - - - - - - 576 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=576 - Mucolipidosis type II - - Disease - - - - - - - - 137634 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137634 - Overgrowth-macrocephaly-facial dysmorphism syndrome - - Malformation syndrome - - - - - - - - 93473 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93473 - Hurler syndrome - - Clinical subtype - - - - - - - - 60040 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=60040 - Megalencephaly-capillary malformation-polymicrogyria syndrome - - Malformation syndrome - - - - - - - - 1458 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1458 - CODAS syndrome - - Malformation syndrome - - - - - - - - 664410 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=664410 - Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome - - Malformation syndrome - - - - - - 228384 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228384 - 5q14.3 microdeletion syndrome - - Etiological subtype - - - - - - - - 664416 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=664416 - Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome due to MEF2C mutation - - Etiological subtype - - - - - - - - - - 664438 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=664438 - Gingival fibromatosis-aortic root dilatation-facial dysmorphism-intellectual disability syndrome - - Malformation syndrome - - - - - - - - 664430 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=664430 - Neurodevelopmental disorder-slit-like lateral ventricles-intellectual disability syndrome - - Malformation syndrome - - - - - - - - 664923 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=664923 - Congenital arthrogryposis-microcephaly-facial dysmorphism-severe neurodevelopmental delay syndrome - - Malformation syndrome - - - - - - - - 2502 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2502 - Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome - - Malformation syndrome - - - - - - - - 2715 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2715 - Severe oculo-renal-cerebellar syndrome - - Malformation syndrome - - - - - - - - 2751 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2751 - Orofaciodigital syndrome type 2 - - Malformation syndrome - - - - - - - - 2753 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2753 - Orofaciodigital syndrome type 4 - - Malformation syndrome - - - - - - - - 2754 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2754 - Orofaciodigital syndrome type 6 - - Malformation syndrome - - - - - - - - 2776 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2776 - Autosomal recessive distal osteolysis syndrome - - Malformation syndrome - - - - - - - - 2788 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2788 - Osteoporosis-pseudoglioma syndrome - - Disease - - - - - - - - 2798 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2798 - Pachygyria-intellectual disability-epilepsy syndrome - - Malformation syndrome - - - - - - - - 2919 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2919 - Orofaciodigital syndrome type 5 - - Malformation syndrome - - - - - - - - 2928 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2928 - Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome - - Malformation syndrome - - - - - - - - 2962 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2962 - De Barsy syndrome - - Disease - - - - - - 35664 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35664 - ALDH18A1-related De Barsy syndrome - - Etiological subtype - - - - - - - - 293633 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293633 - PYCR1-related De Barsy syndrome - - Etiological subtype - - - - - - - - - - 3042 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3042 - Intellectual disability-cataracts-calcified pinnae-myopathy syndrome - - Malformation syndrome - - - - - - - - 3177 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3177 - Spinocerebellar degeneration-corneal dystrophy syndrome - - Malformation syndrome - - - - - - - - 3231 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3231 - Deafness-onychodystrophy syndrome - - Clinical group - - - - - - 79499 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79499 - Autosomal dominant deafness-onychodystrophy syndrome - - Malformation syndrome - - - - - - - - 79500 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79500 - DOORS syndrome - - Malformation syndrome - - - - - - - - - - 85282 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85282 - MEHMO syndrome - - Malformation syndrome - - - - - - - - 85285 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85285 - X-linked intellectual disability, Schimke type - - Malformation syndrome - - - - - - - - 85288 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85288 - X-linked intellectual disability, Stocco Dos Santos type - - Malformation syndrome - - - - - - - - 85297 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85297 - X-linked spinocerebellar ataxia type 3 - - Malformation syndrome - - - - - - - - 85320 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85320 - X-linked intellectual disability-macrocephaly-macroorchidism syndrome - - Malformation syndrome - - - - - - - - 85323 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85323 - X-linked intellectual disability, Seemanova type - - Disease - - - - - - - - 85324 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85324 - X-linked intellectual disability, Shrimpton type - - Malformation syndrome - - - - - - - - 85327 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85327 - X-linked intellectual disability-acromegaly-hyperactivity syndrome - - Disease - - - - - - - - 137831 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137831 - X-linked intellectual disability-cerebellar hypoplasia syndrome - - Disease - - - - - - - - 163937 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163937 - X-linked intellectual disability, Najm type - - Disease - - - - - - - - 163956 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163956 - X-linked intellectual disability, Nascimento type - - Disease - - - - - - - - 163961 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163961 - X-linked cerebral-cerebellar-coloboma syndrome - - Disease - - - - - - - - 163966 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163966 - X-linked dominant chondrodysplasia, Chassaing-Lacombe type - - Disease - - - - - - - - 163971 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163971 - X-linked intellectual disability, Cilliers type - - Disease - - - - - - - - 163976 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163976 - X-linked intellectual disability, Van Esch type - - Malformation syndrome - - - - - - - - 163979 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163979 - X-linked intellectual disability-craniofacioskeletal syndrome - - Disease - - - - - - - - 99329 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99329 - 48,XYYY syndrome - - Malformation syndrome - - - - - - - - 139474 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139474 - 17q11.2 microduplication syndrome - - Malformation syndrome - - - - - - - - 163649 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163649 - Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome - - Disease - - - - - - - - 163665 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163665 - Spondyloepiphyseal dysplasia tarda, Kohn type - - Disease - - - - - - - - 171703 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171703 - Microcephaly-polymicrogyria-corpus callosum agenesis syndrome - - Malformation syndrome - - - - - - - - 210548 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210548 - Macrocephaly-intellectual disability-autism syndrome - - Disease - - - - - - - - 247262 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247262 - Hyperphosphatasia-intellectual disability syndrome - - Disease - - - - - - - - 250972 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=250972 - Polymicrogyria with optic nerve hypoplasia - - Malformation syndrome - - - - - - - - 254516 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254516 - Temple syndrome - - Malformation syndrome - - - - - - 96184 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96184 - Temple syndrome due to maternal uniparental disomy of chromosome 14 - - Etiological subtype - - - - - - - - 254525 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254525 - Temple syndrome due to paternal 14q32.2 microdeletion - - Etiological subtype - - - - - - - - 254531 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254531 - Temple syndrome due to paternal 14q32.2 hypomethylation - - Etiological subtype - - - - - - - - - - 313947 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313947 - 2q23.1 microduplication syndrome - - Malformation syndrome - - - - - - - - 324313 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324313 - 9p13 microdeletion syndrome - - Malformation syndrome - - - - - - - - 2152 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2152 - Mowat-Wilson syndrome - - Malformation syndrome - - - - - - 261537 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261537 - Mowat-Wilson syndrome due to monosomy 2q22 - - Etiological subtype - - - - - - - - 261552 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261552 - Mowat-Wilson syndrome due to a ZEB2 point mutation - - Etiological subtype - - - - - - - - - - 2166 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2166 - Holoprosencephaly-postaxial polydactyly syndrome - - Malformation syndrome - - - - - - - - 2172 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2172 - Microcephaly-glomerulonephritis-marfanoid habitus syndrome - - Malformation syndrome - - - - - - - - 2213 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2213 - Hypertelorism-microtia-facial clefting syndrome - - Malformation syndrome - - - - - - - - 1051 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1051 - Ramos-Arroyo syndrome - - Malformation syndrome - - - - - - - - 2234 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2234 - Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome - - Malformation syndrome - - - - - - - - 2249 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2249 - Ulna hypoplasia-intellectual disability syndrome - - Malformation syndrome - - - - - - - - 2261 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2261 - Hypospadias-intellectual disability, Goldblatt type syndrome - - Malformation syndrome - - - - - - - - 2409 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2409 - Lowry-MacLean syndrome - - Malformation syndrome - - - - - - - - 2429 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2429 - Macrocephaly-spastic paraplegia-dysmorphism syndrome - - Malformation syndrome - - - - - - - - 2461 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2461 - Marden-Walker syndrome - - Malformation syndrome - - - - - - - - 2462 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2462 - Shprintzen-Goldberg syndrome - - Malformation syndrome - - - - - - - - 2463 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2463 - Marfanoid habitus-autosomal recessive intellectual disability syndrome - - Malformation syndrome - - - - - - - - 2471 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2471 - McDonough syndrome - - Malformation syndrome - - - - - - - - 2511 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2511 - Microbrachycephaly-ptosis-cleft lip syndrome - - Malformation syndrome - - - - - - - - 2515 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2515 - Microcephaly-cardiomyopathy syndrome - - Malformation syndrome - - - - - - - - 2518 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2518 - Autosomal recessive chorioretinopathy-microcephaly syndrome - - Malformation syndrome - - - - - - - - 2521 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2521 - Microcephaly-cleft palate-abnormal retinal pigmentation syndrome - - Malformation syndrome - - - - - - - - 2522 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2522 - Microcephaly-cervical spine fusion anomalies syndrome - - Malformation syndrome - - - - - - - - 2523 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2523 - Microcephaly-brain defect-spasticity-hypernatremia syndrome - - Malformation syndrome - - - - - - - - 2528 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2528 - Microcephaly-microcornea syndrome, Seemanova type - - Malformation syndrome - - - - - - - - 2533 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2533 - Microcephaly-deafness-intellectual disability syndrome - - Malformation syndrome - - - - - - - - 2588 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2588 - Myhre syndrome - - Malformation syndrome - - - - - - - - 2608 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2608 - N syndrome - - Malformation syndrome - - - - - - - - 2617 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2617 - Microcephalic primordial dwarfism, Montreal type - - Malformation syndrome - - - - - - - - 2658 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2658 - Lenz-Majewski hyperostotic dwarfism - - Malformation syndrome - - - - - - - - 2673 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2673 - Neurofaciodigitorenal syndrome - - Malformation syndrome - - - - - - - - 2707 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2707 - Oculocerebrofacial syndrome, Kaufman type - - Malformation syndrome - - - - - - - - 35981 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35981 - Polymicrogyria - - Clinical group - - - - - - 268940 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268940 - Bilateral polymicrogyria - - Morphological anomaly - - - - - - 98889 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98889 - Bilateral perisylvian polymicrogyria - - Clinical subtype - - - - - - - - 101070 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101070 - Bilateral frontoparietal polymicrogyria - - Clinical subtype - - - - - - - - 208441 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=208441 - Bilateral parasagittal parieto-occipital polymicrogyria - - Clinical subtype - - - - - - - - 208444 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=208444 - Bilateral frontal polymicrogyria - - Clinical subtype - - - - - - - - 208447 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=208447 - Bilateral generalized polymicrogyria - - Clinical subtype - - - - - - - - - - 268943 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268943 - Unilateral polymicrogyria - - Morphological anomaly - - - - - - 101071 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101071 - Unilateral hemispheric polymicrogyria - - Clinical subtype - - - - - - - - 268947 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268947 - Unilateral focal polymicrogyria - - Clinical subtype - - - - - - - - - - - - 48471 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=48471 - Lissencephaly - - Category - - - - - - 1083 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1083 - Microlissencephaly - - Morphological anomaly - - - - - - 89844 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=89844 - Lissencephaly syndrome, Norman-Roberts type - - Clinical subtype - - - - - - - - - - 51577 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=51577 - Cobblestone lissencephaly - - Clinical group - - - - - - 352682 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352682 - Cobblestone lissencephaly without muscular or ocular involvement - - Disease - - - - - - - - 352687 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352687 - Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies - - Clinical group - - - - - - 272 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=272 - Congenital muscular dystrophy, Fukuyama type - - Malformation syndrome - - - - - - - - 899 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=899 - Walker-Warburg syndrome - - Disease - - - - - - - - 588 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=588 - Muscle-eye-brain disease - - Malformation syndrome - - - - - - - - 370997 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370997 - Muscle-eye-brain disease with bilateral multicystic leucodystrophy - - Disease - - - - - - - - - - - - 86823 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86823 - Lissencephaly with cerebellar hypoplasia - - Clinical group - - - - - - 100011 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100011 - Lissencephaly with cerebellar hypoplasia type A - - Malformation syndrome - - - - - - - - 100012 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100012 - Lissencephaly with cerebellar hypoplasia type B - - Malformation syndrome - - - - - - - - 100013 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100013 - Lissencephaly with cerebellar hypoplasia type C - - Malformation syndrome - - - - - - - - 100014 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100014 - Lissencephaly with cerebellar hypoplasia type D - - Malformation syndrome - - - - - - - - 100015 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100015 - Lissencephaly with cerebellar hypoplasia type E - - Malformation syndrome - - - - - - - - 100016 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100016 - Lissencephaly with cerebellar hypoplasia type F - - Malformation syndrome - - - - - - - - - - 102009 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=102009 - Classic lissencephaly - - Clinical group - - - - - - 572013 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572013 - Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome - - Malformation syndrome - - - - - - - - 2148 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2148 - Lissencephaly type 1 due to doublecortin gene mutation - - Disease - - - - - - - - 531 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=531 - Miller-Dieker syndrome - - Malformation syndrome - - - - - - - - 1084 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1084 - Isolated lissencephaly type 1 without known genetic defects - - Disease - - - - - - - - 95232 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95232 - Lissencephaly due to LIS1 mutation - - Disease - - - - - - - - - - 102010 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=102010 - Other syndrome with lissencephaly as a major feature - - Category - - - - - - 1528 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1528 - Craniotelencephalic dysplasia - - Malformation syndrome - - - - - - - - 2510 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2510 - Micro syndrome - - Malformation syndrome - - - - - - - - 2995 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2995 - Baraitser-Winter cerebrofrontofacial syndrome - - Malformation syndrome - - - - - - - - 452 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=452 - X-linked lissencephaly with abnormal genitalia - - Malformation syndrome - - - - - - - - - - 102011 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=102011 - Lissencephaly type 3 - - Clinical group - - - - - - 2671 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2671 - Neu-Laxova syndrome - - Malformation syndrome - - - - - - 583602 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=583602 - Neu-Laxova syndrome due to phosphoserine aminotransferase deficiency - - Etiological subtype - - - - - - - - 583607 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=583607 - Neu-Laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency - - Etiological subtype - - - - - - - - 583612 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=583612 - Neu-Laxova syndrome due to 3-phosphoserine phosphatase deficiency - - Etiological subtype - - - - - - - - - - 86821 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86821 - Lissencephaly type 3-familial fetal akinesia sequence syndrome - - Malformation syndrome - - - - - - - - 86822 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86822 - Lissencephaly type 3-metacarpal bone dysplasia syndrome - - Malformation syndrome - - - - - - - - - - 171680 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171680 - Lissencephaly due to TUBA1A mutation - - Malformation syndrome - - - - - - - - - - 48652 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=48652 - Phelan-McDermid syndrome - - Malformation syndrome - - - - - - 662172 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662172 - Phelan-McDermid syndrome due to SHANK3 mutation - - Etiological subtype - - - - - - - - 662169 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662169 - Phelan-McDermid syndrome due to 22q13.3 deletion - - Etiological subtype - - - - - - - - - - 50810 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50810 - Microlissencephaly-micromelia syndrome - - Malformation syndrome - - - - - - - - 50811 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50811 - Lipodystrophy-intellectual disability-deafness syndrome - - Disease - - - - - - - - 73223 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73223 - Global developmental delay-osteopenia-ectodermal defect syndrome - - Malformation syndrome - - - - - - - - 73230 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73230 - Ossification anomalies-psychomotor developmental delay syndrome - - Disease - - - - - - - - 75496 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75496 - B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome - - Clinical subtype - - - - - - - - 77299 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77299 - Microphthalmia-brain atrophy syndrome - - Malformation syndrome - - - - - - - - 83472 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83472 - CAMOS syndrome - - Malformation syndrome - - - - - - - - 94063 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94063 - 12q14 microdeletion syndrome - - Malformation syndrome - - - - - - - - 96263 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96263 - 48,XXXY syndrome - - Malformation syndrome - - - - - - - - 96264 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96264 - 49,XXXXY syndrome - - Malformation syndrome - - - - - - - - 1436 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1436 - X-linked skeletal dysplasia-intellectual disability syndrome - - Malformation syndrome - - - - - - - - 79156 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79156 - Seizures-intellectual disability due to hydroxylysinuria syndrome - - Disease - - - - - - - - 88618 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88618 - S-adenosylhomocysteine hydrolase deficiency - - Disease - - - - - - - - 2339 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2339 - Keratosis follicularis-dwarfism-cerebral atrophy syndrome - - Malformation syndrome - - - - - - - - 2556 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2556 - Microphthalmia with linear skin defects syndrome - - Malformation syndrome - - - - - - - - 2750 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2750 - Orofaciodigital syndrome type 1 - - Malformation syndrome - - - - - - - - 2958 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2958 - X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome - - Malformation syndrome - - - - - - - - 3052 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3052 - X-linked intellectual disability-seizures-psoriasis syndrome - - Disease - - - - - - - - 83473 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83473 - Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome - - Malformation syndrome - - - - - - - - 79333 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79333 - COG7-CDG - - Disease - - - - - - - - 2470 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2470 - Matthew-Wood syndrome - - Malformation syndrome - - - - - - - - 36367 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36367 - Distal deletion 1q syndrome - - Malformation syndrome - - - - - - - - 139471 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139471 - Microphthalmia with brain and digit anomalies - - Malformation syndrome - - - - - - - - 79094 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79094 - Grange syndrome - - Malformation syndrome - - - - - - - - 2792 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2792 - Otofaciocervical syndrome - - Malformation syndrome - - - - - - - - 2886 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2886 - TARP syndrome - - Malformation syndrome - - - - - - - - 2662 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2662 - Keipert syndrome - - Malformation syndrome - - - - - - - - 300305 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300305 - 11p15.4 microduplication syndrome - - Malformation syndrome - - - - - - - - 300496 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300496 - Multiple congenital anomalies-hypotonia-seizures syndrome type 2 - - Malformation syndrome - - - - - - - - 300573 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300573 - Polymicrogyria due to TUBB2B mutation - - Malformation syndrome - - - - - - - - 313781 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313781 - 20p13 microdeletion syndrome - - Malformation syndrome - - - - - - - - 313795 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313795 - Jawad syndrome - - Malformation syndrome - - - - - - - - 314034 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314034 - 7p22.1 microduplication syndrome - - Malformation syndrome - - - - - - - - 314575 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314575 - Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome - - Malformation syndrome - - - - - - - - 314585 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314585 - 15q overgrowth syndrome - - Malformation syndrome - - - - - - 1707 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1707 - Distal duplication 15q syndrome - - Etiological subtype - - - - - - - - 314588 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314588 - Distal triplication 15q syndrome - - Etiological subtype - - - - - - - - - - 314679 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314679 - Cerebrofacioarticular syndrome - - Malformation syndrome - - - - - - - - 319171 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319171 - Distal 17p13.1 microdeletion syndrome - - Malformation syndrome - - - - - - - - 319182 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319182 - Wiedemann-Steiner syndrome - - Malformation syndrome - - - - - - - - 431140 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=431140 - X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome - - Malformation syndrome - - - - - - - - 434179 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=434179 - Orofaciodigital syndrome type 14 - - Malformation syndrome - - - - - - - - 435938 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435938 - X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome - - Malformation syndrome - - - - - - - - 436141 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436141 - HIDEA syndrome - - Malformation syndrome - - - - - - - - 438213 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=438213 - PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome - - Disease - - - - - - 314655 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314655 - Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion - - Etiological subtype - - - - - - - - 438216 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=438216 - PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation - - Etiological subtype - - - - - - - - - - 439822 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439822 - PDE4D haploinsufficiency syndrome - - Malformation syndrome - - - - - - - - 444002 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444002 - 11q22.2q22.3 microdeletion syndrome - - Malformation syndrome - - - - - - - - 444051 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444051 - 20q11.2 microdeletion syndrome - - Malformation syndrome - - - - - - - - 444072 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444072 - Cerebellar-facial-dental syndrome - - Malformation syndrome - - - - - - - - 444077 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444077 - Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome - - Malformation syndrome - - - - - - - - 447980 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447980 - 19p13.3 microduplication syndrome - - Malformation syndrome - - - - - - - - 453499 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=453499 - Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome - - Malformation syndrome - - - - - - 352665 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352665 - Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion - - Etiological subtype - - - - - - - - 453504 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=453504 - Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation - - Etiological subtype - - - - - - - - - - 456298 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=456298 - 1p35.2 microdeletion syndrome - - Malformation syndrome - - - - - - - - 456312 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=456312 - Infantile multisystem neurologic-endocrine-pancreatic disease - - Disease - - - - - - - - 457193 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457193 - KAT6-related intellectual disability-craniofacial anomalies-cardiac defects syndrome - - Malformation syndrome - - - - - - - - 457240 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457240 - X-linked intellectual disability-short stature-overweight syndrome - - Malformation syndrome - - - - - - - - 457279 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457279 - Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome - - Malformation syndrome - - - - - - - - 457284 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457284 - Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome - - Malformation syndrome - - - - - - - - 457359 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457359 - Megalencephaly-severe kyphoscoliosis-overgrowth syndrome - - Malformation syndrome - - - - - - - - 457365 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457365 - Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome - - Malformation syndrome - - - - - - - - 457395 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457395 - Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome - - Malformation syndrome - - - - - - - - 457485 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457485 - Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome - - Malformation syndrome - - - - - - - - 459061 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=459061 - Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome - - Malformation syndrome - - - - - - - - 459070 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=459070 - X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome - - Malformation syndrome - - - - - - - - 459074 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=459074 - Corpus callosum agenesis-macrocephaly-hypertelorism syndrome - - Malformation syndrome - - - - - - - - 464282 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464282 - Spastic paraplegia-severe developmental delay-epilepsy syndrome - - Disease - - - - - - - - 464288 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464288 - Short stature-brachydactyly-obesity-global developmental delay syndrome - - Malformation syndrome - - - - - - - - 464306 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464306 - DYRK1A-related intellectual disability syndrome - - Malformation syndrome - - - - - - 268261 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268261 - DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion - - Etiological subtype - - - - - - - - 464311 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464311 - Intellectual disability syndrome due to a DYRK1A point mutation - - Etiological subtype - - - - - - - - - - 464738 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464738 - Basel-Vanagaite-Smirin-Yosef syndrome - - Malformation syndrome - - - - - - - - 466688 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466688 - Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome - - Malformation syndrome - - - - - - - - 466791 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466791 - Macrocephaly-intellectual disability-left ventricular non compaction syndrome - - Malformation syndrome - - - - - - - - 466943 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466943 - WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome - - Malformation syndrome - - - - - - 284169 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284169 - Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion - - Clinical subtype - - - - - - - - 466950 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466950 - Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation - - Clinical subtype - - - - - - - - - - 468678 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=468678 - White-Sutton syndrome - - Disease - - - - - - - - 468699 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=468699 - SLC39A8-CDG - - Disease - - - - - - - - 476126 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=476126 - Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome - - Malformation syndrome - - - - - - - - 477993 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477993 - Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome - - Malformation syndrome - - - - - - - - 480880 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480880 - X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability - - Malformation syndrome - - - - - - - - 480898 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480898 - Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome - - Disease - - - - - - - - 480907 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480907 - X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome - - Malformation syndrome - - - - - - - - 481152 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=481152 - PYCR2-related microcephaly-progressive leukoencephalopathy - - Malformation syndrome - - - - - - - - 485405 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=485405 - 16p12.1p12.3 triplication syndrome - - Malformation syndrome - - - - - - - - 487796 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=487796 - Takenouchi-Kosaki syndrome - - Malformation syndrome - - - - - - - - 487825 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=487825 - Pierpont syndrome - - Malformation syndrome - - - - - - - - 488434 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488434 - Camptodactyly syndrome, Guadalajara type 3 - - Malformation syndrome - - - - - - - - 488618 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488618 - Transketolase deficiency - - Malformation syndrome - - - - - - - - 488627 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488627 - Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome - - Malformation syndrome - - - - - - - - 488632 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488632 - TBCK-related encephalopathy-severe hypotonia-craniofacial dysmorphism syndrome - - Malformation syndrome - - - - - - - - 488642 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488642 - TELO2-related intellectual disability-neurodevelopmental disorder - - Malformation syndrome - - - - - - - - 494344 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=494344 - RERE-related neurodevelopmental syndrome - - Malformation syndrome - - - - - - - - 495818 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=495818 - 9q33.3q34.11 microdeletion syndrome - - Malformation syndrome - - - - - - - - 495875 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=495875 - Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome - - Malformation syndrome - - - - - - - - 496641 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=496641 - Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome - - Malformation syndrome - - - - - - - - 500095 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500095 - Tall stature-intellectual disability-renal anomalies syndrome - - Malformation syndrome - - - - - - - - 500144 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500144 - Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome - - Malformation syndrome - - - - - - - - 500150 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500150 - Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome - - Malformation syndrome - - - - - - - - 500159 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500159 - Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom - - Malformation syndrome - - - - - - - - 500163 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500163 - Witteveen-Kolk syndrome - - Malformation syndrome - - - - - - 94065 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94065 - 15q24 microdeletion syndrome - - Etiological subtype - - - - - - - - 500166 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500166 - SIN3-related intellectual disability syndrome due to a point mutation - - Etiological subtype - - - - - - - - - - 263508 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263508 - COG1-CDG - - Disease - - - - - - - - 1495 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1495 - Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome - - Malformation syndrome - - - - - - - - 1512 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1512 - Crane-Heise syndrome - - Malformation syndrome - - - - - - - - 1514 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1514 - Craniodigital-intellectual disability syndrome - - Malformation syndrome - - - - - - - - 1812 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1812 - Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome - - Malformation syndrome - - - - - - - - 1825 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1825 - Epiphyseal dysplasia-hearing loss-dysmorphism syndrome - - Malformation syndrome - - - - - - - - 2824 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2824 - Paraplegia-intellectual disability-hyperkeratosis syndrome - - Malformation syndrome - - - - - - - - 2044 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2044 - Floating-Harbor syndrome - - Malformation syndrome - - - - - - - - 2059 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2059 - Fryns syndrome - - Malformation syndrome - - - - - - - - 52055 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52055 - Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome - - Malformation syndrome - - - - - - - - 52503 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52503 - X-linked creatine transporter deficiency - - Disease - - - - - - - - 56304 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=56304 - Atelosteogenesis type II - - Malformation syndrome - - - - - - - - 56305 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=56305 - Atelosteogenesis type III - - Malformation syndrome - - - - - - - - 66625 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66625 - Cerebrooculonasal syndrome - - Malformation syndrome - - - - - - - - 66629 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66629 - Goldberg-Shprintzen megacolon syndrome - - Malformation syndrome - - - - - - - - 71267 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71267 - Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome - - Malformation syndrome - - - - - - - - 79113 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79113 - Mandibulofacial dysostosis-microcephaly syndrome - - Malformation syndrome - - - - - - - - 83617 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83617 - Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome - - Malformation syndrome - - - - - - - - 85202 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85202 - Keutel syndrome - - Malformation syndrome - - - - - - - - 85273 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85273 - X-linked intellectual disability, Abidi type - - Malformation syndrome - - - - - - - - 85274 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85274 - Syndromic X-linked intellectual disability 7 - - Malformation syndrome - - - - - - - - 85275 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85275 - Microphthalmia-ankyloblepharon-intellectual disability syndrome - - Malformation syndrome - - - - - - - - 85276 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85276 - X-linked intellectual disability, Armfield type - - Malformation syndrome - - - - - - - - 85278 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85278 - Christianson syndrome - - Malformation syndrome - - - - - - - - 85279 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85279 - KDM5C-related syndromic X-linked intellectual disability - - Malformation syndrome - - - - - - - - 85280 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85280 - X-linked intellectual disability-cubitus valgus-dysmorphism syndrome - - Malformation syndrome - - - - - - - - 85325 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85325 - X-linked intellectual disability, Stevenson type - - Malformation syndrome - - - - - - - - 3063 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3063 - X-linked intellectual disability, Snyder type - - Disease - - - - - - - - 3078 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3078 - Severe X-linked intellectual disability, Gustavson type - - Malformation syndrome - - - - - - - - 3417 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3417 - Van den Bosch syndrome - - Malformation syndrome - - - - - - - - 3454 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3454 - Wieacker-Wolff syndrome - - Malformation syndrome - - - - - - - - 3459 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3459 - Wilson-Turner syndrome - - Malformation syndrome - - - - - - - - 423655 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423655 - ARX-related encephalopathy-brain malformation spectrum - - Clinical group - - - - - - 2508 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2508 - Corpus callosum agenesis-abnormal genitalia syndrome - - Malformation syndrome - - - - - - - - 452 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=452 - X-linked lissencephaly with abnormal genitalia - - Malformation syndrome - - - - - - - - - - 435628 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435628 - Keppen-Lubinsky syndrome - - Malformation syndrome - - - - - - - - 436245 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436245 - Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome - - Disease - - - - - - - - 457205 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457205 - Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome - - Disease - - - - - - - - 457212 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457212 - Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome - - Disease - - - - - - - - 477817 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477817 - PMP22-RAI1 contiguous gene duplication syndrome - - Malformation syndrome - - - - - - - - 500533 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500533 - Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome - - Disease - - - - - - - - 530983 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=530983 - Lamb-Shaffer syndrome - - Disease - - - - - - 313892 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313892 - Developmental and speech delay due to SOX5 deficiency - - Clinical subtype - - - - - - - - 313884 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313884 - 12p12.1 microdeletion syndrome - - Clinical subtype - - - - - - - - - - 544469 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=544469 - PRUNE1-related neurological syndrome - - Malformation syndrome - - - - - - - - 544488 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=544488 - Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome - - Disease - - - - - - - - 1308 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1308 - C syndrome - - Malformation syndrome - - - - - - - - 3055 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3055 - X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome - - Malformation syndrome - - - - - - - - 3079 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3079 - Intellectual disability, Buenos-Aires type - - Malformation syndrome - - - - - - - - 3080 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3080 - Intellectual disability, Wolff type - - Malformation syndrome - - - - - - - - 3101 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3101 - Richieri Costa-da Silva syndrome - - Malformation syndrome - - - - - - - - 3121 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3121 - Ruvalcaba syndrome - - Malformation syndrome - - - - - - - - 3132 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3132 - Say-Barber-Miller syndrome - - Malformation syndrome - - - - - - - - 3134 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3134 - SCARF syndrome - - Malformation syndrome - - - - - - - - 3164 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3164 - Omphalocele syndrome, Shprintzen-Goldberg type - - Malformation syndrome - - - - - - - - 3433 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3433 - Microcephaly-brachydactyly-kyphoscoliosis syndrome - - Malformation syndrome - - - - - - - - 3434 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3434 - MMEP syndrome - - Malformation syndrome - - - - - - - - 3448 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3448 - Weaver-Williams syndrome - - Malformation syndrome - - - - - - - - 3455 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3455 - Wiedemann-Rautenstrauch syndrome - - Malformation syndrome - - - - - - - - 3473 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3473 - Zimmermann-Laband syndrome - - Malformation syndrome - - - - - - - - 1277 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1277 - Brachydactyly-mesomelia-intellectual disability-heart defects syndrome - - Malformation syndrome - - - - - - - - 1778 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1778 - Facial dysmorphism-shawl scrotum-joint laxity syndrome - - Malformation syndrome - - - - - - - - 3074 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3074 - Intellectual disability-short stature-hypertelorism syndrome - - Malformation syndrome - - - - - - - - 2519 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2519 - Microcephaly-seizures-intellectual disability-heart disease syndrome - - Malformation syndrome - - - - - - - - 2898 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2898 - X-linked intellectual disability-plagiocephaly syndrome - - Malformation syndrome - - - - - - - - 2015 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2015 - Cleft palate-short stature-vertebral anomalies syndrome - - Malformation syndrome - - - - - - - - 2427 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2427 - Macrocephaly-short stature-paraplegia syndrome - - Malformation syndrome - - - - - - - - 2058 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2058 - Fryns-Smeets-Thiry syndrome - - Malformation syndrome - - - - - - - - 3207 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3207 - White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome - - Malformation syndrome - - - - - - - - 1130 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1130 - Arachnodactyly-intellectual disability-dysmorphism syndrome - - Malformation syndrome - - - - - - - - 85321 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85321 - Deafness-intellectual disability syndrome, Martin-Probst type - - Malformation syndrome - - - - - - - - 85322 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85322 - X-linked intellectual disability, Pai type - - Malformation syndrome - - - - - - - - 85326 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85326 - X-linked intellectual disability, Stoll type - - Malformation syndrome - - - - - - - - 166035 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166035 - Brachydactyly-short stature-retinitis pigmentosa syndrome - - Malformation syndrome - - - - - - - - 168624 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168624 - Familial scaphocephaly syndrome, McGillivray type - - Malformation syndrome - - - - - - - - 254519 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254519 - Kagami-Ogata syndrome - - Malformation syndrome - - - - - - 96334 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96334 - Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 - - Etiological subtype - - - - - - - - 254528 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254528 - Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion - - Etiological subtype - - - - - - - - 254534 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254534 - Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation - - Etiological subtype - - - - - - - - - - 261323 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261323 - 21q22.11q22.12 microdeletion syndrome - - Malformation syndrome - - - - - - - - 261494 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261494 - Kleefstra syndrome - - Malformation syndrome - - - - - - 96147 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96147 - Kleefstra syndrome due to 9q34 microdeletion - - Etiological subtype - - - - - - - - 261652 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261652 - Kleefstra syndrome due to a point mutation - - Etiological subtype - - - - - - - - - - 280633 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280633 - Multiple congenital anomalies-hypotonia-seizures syndrome - - Malformation syndrome - - - - - - - - 284160 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284160 - 8q21.11 microdeletion syndrome - - Malformation syndrome - - - - - - - - 284180 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284180 - Xp22.13p22.2 duplication syndrome - - Malformation syndrome - - - - - - - - 289522 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289522 - Microtriplication 11q24.1 syndrome - - Malformation syndrome - - - - - - - - 293642 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293642 - Blepharophimosis-intellectual disability syndrome - - Clinical group - - - - - - 1620 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1620 - Distal deletion 3p syndrome - - Malformation syndrome - - - - - - - - 2728 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2728 - Blepharophimosis-intellectual disability syndrome, Ohdo type - - Malformation syndrome - - - - - - - - 3047 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3047 - Blepharophimosis-intellectual disability syndrome, SBBYS type - - Malformation syndrome - - - - - - - - 293707 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293707 - Blepharophimosis-intellectual disability syndrome, MKB type - - Malformation syndrome - - - - - - - - 293725 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293725 - Blepharophimosis-intellectual disability syndrome, Verloes type - - Malformation syndrome - - - - - - - - 637013 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=637013 - SMARCA2-related blepharophimosis-intellectual disability syndrome - - Malformation syndrome - - - - - - - - 700160 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700160 - ADNP-related blepharophimosis-intellectual disability syndrome - - Disease - - - - - - - - - - 293843 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293843 - 3MC syndrome - - Malformation syndrome - - - - - - - - 261584 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261584 - 5q22 microdeletion syndrome - - Disease - - - - - - - - 611247 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=611247 - Pontocerebellar hypoplasia type 11 - - Malformation syndrome - - - - - - - - 53271 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53271 - Muenke syndrome - - Malformation syndrome - - - - - - - - 276432 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276432 - Ogden syndrome - - Malformation syndrome - - - - - - - - 1827 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1827 - Acromelic frontonasal dysplasia - - Malformation syndrome - - - - - - - - 284339 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284339 - Pontocerebellar hypoplasia type 7 - - Malformation syndrome - - - - - - - - 300570 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300570 - Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation - - Disease - - - - - - - - 85194 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85194 - Spondylo-ocular syndrome - - Malformation syndrome - - - - - - - - 642763 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642763 - Autosomal dominant intellectual disability-craniofacial dysmorphism-macrocephaly-hypotonia syndrome due to H1-4 mutation - - Malformation syndrome - - - - - - - - 2067 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2067 - GAPO syndrome - - Malformation syndrome - - - - - - - - 2083 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2083 - Prominent glabella-microcephaly-hypogenitalism syndrome - - Malformation syndrome - - - - - - - - 2712 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2712 - Oculofaciocardiodental syndrome - - Malformation syndrome - - - - - - - - 2714 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2714 - Oculo-palato-cerebral syndrome - - Malformation syndrome - - - - - - - - 2719 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2719 - Oculocerebral hypopigmentation syndrome, Cross type - - Malformation syndrome - - - - - - - - 2720 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2720 - Oculocerebral hypopigmentation syndrome, Preus type - - Malformation syndrome - - - - - - - - 2736 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2736 - Lethal omphalocele-cleft palate syndrome - - Malformation syndrome - - - - - - - - 2743 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2743 - Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome - - Malformation syndrome - - - - - - - - 2920 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2920 - Oliver syndrome - - Malformation syndrome - - - - - - - - 2921 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2921 - Preaxial polydactyly-colobomata-intellectual disability syndrome - - Malformation syndrome - - - - - - - - 3051 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3051 - Nicolaides-Baraitser syndrome - - Malformation syndrome - - - - - - - - 1272 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1272 - Aymé-Gripp syndrome - - Malformation syndrome - - - - - - - - 1129 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1129 - Arachnodactyly-abnormal ossification-intellectual disability syndrome - - Malformation syndrome - - - - - - - - 1383 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1383 - Cataract-deafness-hypogonadism syndrome - - Malformation syndrome - - - - - - - - 1123 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1123 - Caudal appendage-deafness syndrome - - Malformation syndrome - - - - - - - - 2745 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2745 - Opitz GBBB syndrome - - Malformation syndrome - - - - - - - - 3082 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3082 - Intellectual disability-polydactyly-uncombable hair syndrome - - Malformation syndrome - - - - - - - - 3474 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3474 - CHIME syndrome - - Malformation syndrome - - - - - - - - 1246 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1246 - Brachydactyly-nystagmus-cerebellar ataxia syndrome - - Malformation syndrome - - - - - - - - 818 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=818 - Smith-Lemli-Opitz syndrome - - Malformation syndrome - - - - - - - - 48431 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=48431 - Congenital cataracts-facial dysmorphism-neuropathy syndrome - - Malformation syndrome - - - - - - - - 85283 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85283 - X-linked intellectual disability, Miles-Carpenter type - - Malformation syndrome - - - - - - - - 85284 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85284 - BRESEK syndrome - - Malformation syndrome - - - - - - - - 85317 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85317 - X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome - - Malformation syndrome - - - - - - - - 85319 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85319 - X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome - - Malformation syndrome - - - - - - - - 85329 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85329 - X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome - - Malformation syndrome - - - - - - - - 85335 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85335 - Fried syndrome - - Malformation syndrome - - - - - - - - 86818 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86818 - Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome - - Disease - - - - - - - - 87876 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=87876 - Sialidosis type 2 - - Disease - - - - - - 93399 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93399 - Juvenile sialidosis type 2 - - Clinical subtype - - - - - - - - 93400 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93400 - Congenital sialidosis type 2 - - Clinical subtype - - - - - - - - - - 90650 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90650 - Otopalatodigital syndrome type 1 - - Malformation syndrome - - - - - - - - 90652 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90652 - Otopalatodigital syndrome type 2 - - Malformation syndrome - - - - - - - - 93932 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93932 - FG syndrome type 1 - - Disease - - - - - - - - 502434 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=502434 - STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome - - Malformation syndrome - - - - - - - - 505237 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=505237 - Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome - - Malformation syndrome - - - - - - - - 505248 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=505248 - Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders - - Malformation syndrome - - - - - - - - 506307 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=506307 - Stromme syndrome - - Malformation syndrome - - - - - - - - 506358 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=506358 - Gabriele-de Vries syndrome - - Malformation syndrome - - - - - - - - 508488 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508488 - 8q24.3 microdeletion syndrome - - Malformation syndrome - - - - - - - - 508498 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508498 - Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome - - Malformation syndrome - - - - - - - - 508533 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508533 - Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome - - Disease - - - - - - - - 508542 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508542 - Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome - - Disease - - - - - - - - 513456 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=513456 - Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome - - Disease - - - - - - - - 521258 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521258 - Xq25 microduplication syndrome - - Malformation syndrome - - - - - - - - 521426 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521426 - PLAA-associated neurodevelopmental disorder - - Malformation syndrome - - - - - - - - 529665 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=529665 - Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome - - Malformation syndrome - - - - - - - - 529962 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=529962 - 17q24.2 microdeletion syndrome - - Malformation syndrome - - - - - - - - 529965 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=529965 - Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome - - Malformation syndrome - - - - - - - - 544503 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=544503 - RNF13-related severe early-onset epileptic encephalopathy - - Disease - - - - - - - - 556955 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=556955 - Pancreatic agenesis-holoprosencephaly syndrome - - Disease - - - - - - - - 557003 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=557003 - Oculoskeletodental syndrome - - Disease - - - - - - - - 562528 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=562528 - Congenital limbs-face contractures-hypotonia-developmental delay syndrome - - Malformation syndrome - - - - - - - - 562559 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=562559 - Anterior maxillary protrusion-strabismus-intellectual disability syndrome - - Malformation syndrome - - - - - - - - 562569 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=562569 - TMEM94-associated congenital heart defect-facial dysmorphism-developmental delay syndrome - - Malformation syndrome - - - - - - - - 565858 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=565858 - Craniosynostosis-microretrognathia-severe intellectual disability syndrome - - Malformation syndrome - - - - - - - - 572333 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572333 - Blepharophimosis-ptosis-epicanthus inversus syndrome plus - - Malformation syndrome - - - - - - - - 576278 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=576278 - SATB2-associated syndrome - - Malformation syndrome - - - - - - 251028 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251028 - SATB2-associated syndrome due to a chromosomal rearrangement - - Etiological subtype - - - - - - - - 576283 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=576283 - SATB2-associated syndrome due to a pathogenic variant - - Etiological subtype - - - - - - - - - - 580940 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=580940 - QRICH1-related intellectual disability-chondrodysplasia syndrome - - Malformation syndrome - - - - - - - - 589435 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589435 - Spondylometaphyseal dysplasia-corneal dystrophy syndrome - - Malformation syndrome - - - - - - - - 589442 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589442 - Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome - - Malformation syndrome - - - - - - - - 589905 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589905 - PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome - - Disease - - - - - - - - 592570 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=592570 - TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome - - Malformation syndrome - - - - - - - - 592574 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=592574 - Menke-Hennekam syndrome - - Malformation syndrome - - - - - - - - 597738 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=597738 - Luscan-Lumish syndrome - - Malformation syndrome - - - - - - - - 597743 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=597743 - SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome - - Malformation syndrome - - - - - - - - 597749 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=597749 - KAT6B-related multiple congenital anomalies syndrome - - Clinical group - - - - - - 3047 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3047 - Blepharophimosis-intellectual disability syndrome, SBBYS type - - Malformation syndrome - - - - - - - - 85201 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85201 - Genitopatellar syndrome - - Malformation syndrome - - - - - - - - 597746 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=597746 - Blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome - - Malformation syndrome - - - - - - - - - - 598603 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=598603 - Facial dysmorphism-hypertrichosis-epilepsy-intellectual disability/developmental delay-gingival overgrowth syndrome - - Malformation syndrome - - - - - - - - 599082 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=599082 - CHD3-related developmental delay-speech delay-intellectual disability-abnormalities of vision-facial dysmorphism syndrome - - Malformation syndrome - - - - - - - - 600668 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=600668 - CCNK-related neurodevelopmental disorder-severe intellectual disability-facial dysmorphism syndrome - - Disease - - - - - - - - 600731 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=600731 - Clark-Baraitser syndrome - - Malformation syndrome - - - - - - - - 603448 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=603448 - Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome - - Malformation syndrome - - - - - - - - 603684 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=603684 - KLHL7-related Bohring-Opitz-like and Crisponi/Cold-induced sweating-like overlap syndrome - - Malformation syndrome - - - - - - - - 603689 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=603689 - KLHL7-related Bohring-Opitz-like syndrome - - Malformation syndrome - - - - - - - - 138 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=138 - CHARGE syndrome - - Malformation syndrome - - - - - - - - 1358 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1358 - Carey-Fineman-Ziter syndrome - - Malformation syndrome - - - - - - - - 1300 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1300 - Autosomal dominant popliteal pterygium syndrome - - Malformation syndrome - - - - - - - - 1393 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1393 - Cerebrocostomandibular syndrome - - Malformation syndrome - - - - - - - - 1454 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1454 - Joubert syndrome with hepatic defect - - Disease - - - - - - - - 1517 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1517 - Cantú syndrome - - Malformation syndrome - - - - - - - - 1553 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1553 - Curry-Jones syndrome - - Malformation syndrome - - - - - - - - 1662 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1662 - Restrictive dermopathy - - Disease - - - - - - - - 1790 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1790 - Hypomandibular faciocranial dysostosis - - Malformation syndrome - - - - - - - - 1826 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1826 - Frontometaphyseal dysplasia - - Disease - - - - - - - - 2092 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2092 - Focal dermal hypoplasia - - Malformation syndrome - - - - - - - - 672 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=672 - Pallister-Hall syndrome - - Malformation syndrome - - - - - - - - 561 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=561 - Marshall-Smith syndrome - - Malformation syndrome - - - - - - - - 2557 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2557 - Mietens syndrome - - Malformation syndrome - - - - - - - - 2710 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2710 - Oculodentodigital dysplasia - - Malformation syndrome - - - - - - - - 2863 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2863 - Short stature-wormian bones-dextrocardia syndrome - - Malformation syndrome - - - - - - - - 798 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=798 - Schinzel-Giedion syndrome - - Malformation syndrome - - - - - - - - 3138 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3138 - Ulnar-mammary syndrome - - Malformation syndrome - - - - - - - - 675782 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=675782 - Progressive hypotonia-intellectual disability-facial dysmorphism syndrome due to FYVE-defective RBSN - - Disease - - - - - - - - 659387 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=659387 - PRC-2 complex-related overgrowth spectrum - - Clinical group - - - - - - 3447 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3447 - Weaver syndrome - - Malformation syndrome - - - - - - - - 659396 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=659396 - Cohen-Gibson syndrome - - Malformation syndrome - - - - - - - - 659463 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=659463 - Imagawa-Matsumoto syndrome - - Malformation syndrome - - - - - - - - - - 659642 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=659642 - Rauch-Steindl syndrome - - Malformation syndrome - - - - - - - - 659609 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=659609 - Facial dysmorphism-global developmental delay-hypotonia-polymicrogyria syndrome - - Malformation syndrome - - - - - - - - 684305 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=684305 - Neurooculocardiogenitourinary syndrome - - Disease - - - - - - - - 684232 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=684232 - Intellectual disability-épilepsy-dental anomalies-facial dysmorphism syndrome - - Malformation syndrome - - - - - - - - 684216 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=684216 - Intellectual disability-facial dysmorphism-joint hypermobility-hearing loss syndrome - - Malformation syndrome - - - - - - - - 684226 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=684226 - Intellectual disability-hypotonia-facial dysmorphism-macrocephaly syndrome - - Malformation syndrome - - - - - - - - 684742 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=684742 - 2q13 microdeletion syndrome - - Malformation syndrome - - - - - - - - 687695 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=687695 - 10p13-p14 deletion syndrome - - Malformation syndrome - - - - - - - - 686482 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=686482 - BPTF-related intellectual disability-facial dysmorphism-skeletal anomalies syndrome - - Malformation syndrome - - - - - - - - 686488 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=686488 - RNU4-2-related neurodevelopmental disorder-facial dysmorphism-white matter abnormalities-short stature syndrome - - Malformation syndrome - - - - - - - - 686495 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=686495 - MADD-related developmental delay-endocrine dysfunction-hypohemoglobinemia syndrome - - Disease - - - - - - - - 685017 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=685017 - Combined immunodeficiency due to TBX1 deficiency - - Disease - - - - - - - - 688642 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=688642 - Turnpenny-Fry syndrome - - Malformation syndrome - - - - - - - - 689422 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=689422 - Okur-Chung neurodevelopmental syndrome - - Malformation syndrome - - - - - - - - 689397 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=689397 - Poirier-Bienvenu neurodevelopmental syndrome - - Malformation syndrome - - - - - - - - 689829 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=689829 - Microphthalmia-motor delay-language delay-brain anomalies-diaphragmatic hernia syndrome - - Disease - - - - - - - - 689408 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=689408 - Shashi-Pena syndrome - - Malformation syndrome - - - - - - - - 695611 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=695611 - 3q26q28 deletion syndrome - - Malformation syndrome - - - - - - - - 692193 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=692193 - CHAMP1-related intellectual disability-facial dysmorphism-behavioral abnormalities syndrome - - Malformation syndrome - - - - - - - - 694304 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=694304 - ZMYND11-related developmental delay-speech delay-seizures-behavioral abnormalities-craniofacial dysmorphism syndrome - - Disease - - - - - - 687424 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=687424 - ZMYND11-related developmental delay-speech delay-seizures-behavioral abnormalities-craniofacial dysmorphism syndrome due to 10p15.3 microdeletion - - Etiological subtype - - - - - - - - 694308 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=694308 - ZMYND11-related developmental delay-speech delay-seizures-behavioral abnormalities-craniofacial dysmorphism syndrome due to a point mutation - - Etiological subtype - - - - - - - - - - 693549 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=693549 - Facial dysmorphism-Intellectual disability-rhombencephalosynapsis syndrome - - Malformation syndrome - - - - - - - - 694956 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=694956 - Intellectual disability-lymphoid hypertrophy-macrocephaly syndrome - - Malformation syndrome - - - - - - - - 694946 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=694946 - Alazami-Yuan syndrome - - Malformation syndrome - - - - - - - - 694937 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=694937 - Intellectual disability-peripheral neuropathy-corpus callosum abnormalities syndrome due to nudix hydrolase 2 deficiency - - Malformation syndrome - - - - - - - - 697760 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=697760 - Intellectual disability-nasal speech-craniofacial dysmorphism syndrome - - Malformation syndrome - - - - - - 289513 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289513 - 12q15q21 microdeletion syndrome - - Etiological subtype - - - - - - - - 697764 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=697764 - Intellectual disability-nasal speech-craniofacial dysmorphism syndrome due to CNOT2 mutation - - Etiological subtype - - - - - - - - - - 697067 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=697067 - Global developmental delay-intellectual disability-microcephaly-short stature-brain iron accumulation syndrome - - Malformation syndrome - - - - - - - - 698085 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=698085 - Global developmental delay-intellectual disability-facial dysmorphism-pseudo-Pelger-Huët anomaly syndrome - - Malformation syndrome - - - - - - - - 698090 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=698090 - Ophthalmological abnormalities-facial dysmorphism-intellectual disability syndrome - - Malformation syndrome - - - - - - - - 699835 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699835 - Cataract-combined malonic and methylmalonic aciduria-intellectual disability syndrome - - Malformation syndrome - - - - - - - - 699844 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699844 - Microcephaly-corpus callosum hypoplasia-simplified gyral pattern-intellectual disability syndrome - - Malformation syndrome - - - - - - - - 700325 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700325 - NKAP-related intellectual disability-facial dysmorphism-marfanoid habitus-scoliosis syndrome - - Malformation syndrome - - - - - - - - 1014 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1014 - Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome - - Disease - - - - - - - - 1064 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1064 - Aniridia-renal agenesis-psychomotor retardation syndrome - - Malformation syndrome - - - - - - - - 1891 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1891 - Intellectual disability-spasticity-ectrodactyly syndrome - - Malformation syndrome - - - - - - - - 1964 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1964 - Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome - - Malformation syndrome - - - - - - - - 1970 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1970 - Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome - - Malformation syndrome - - - - - - - - 1973 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1973 - Faciocardiorenal syndrome - - Malformation syndrome - - - - - - - - 2008 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2008 - Acrocardiofacial syndrome - - Malformation syndrome - - - - - - - - 2328 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2328 - Kapur-Toriello syndrome - - Malformation syndrome - - - - - - - - 2332 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2332 - KBG syndrome - - Malformation syndrome - - - - - - - - 2985 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2985 - Pseudoprogeria syndrome - - Malformation syndrome - - - - - - - - 2988 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2988 - Pterygium colli-intellectual disability-digital anomalies syndrome - - Malformation syndrome - - - - - - - - 3010 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3010 - Qazi-Markouizos syndrome - - Disease - - - - - - - - 3019 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3019 - Ramon syndrome - - Malformation syndrome - - - - - - - - 3038 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3038 - Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome - - Malformation syndrome - - - - - - - - 3041 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3041 - Intellectual disability-balding-patella luxation-acromicria syndrome - - Malformation syndrome - - - - - - - - 3270 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3270 - Radioulnar synostosis-developmental delay-hypotonia syndrome - - Malformation syndrome - - - - - - - - 3293 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3293 - Telecanthus-hypertelorism-strabismus-pes cavus syndrome - - Malformation syndrome - - - - - - - - 3304 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3304 - Fallot complex-intellectual disability-growth delay syndrome - - Malformation syndrome - - - - - - - - 3363 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3363 - Trichomegaly-retina pigmentary degeneration-dwarfism syndrome - - Malformation syndrome - - - - - - - - 3369 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3369 - Trigonocephaly-short stature-developmental delay syndrome - - Malformation syndrome - - - - - - - - 3404 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3404 - Ulbright-Hodes syndrome - - Malformation syndrome - - - - - - - - 3409 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3409 - Urban-Rogers-Meyer syndrome - - Malformation syndrome - - - - - - - - 3412 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3412 - VACTERL with hydrocephalus - - Malformation syndrome - - - - - - - - 73246 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73246 - Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome - - Malformation syndrome - - - - - - - - 75389 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75389 - Brain malformation-congenital heart disease-postaxial polydactyly syndrome - - Malformation syndrome - - - - - - - - 94066 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94066 - Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia - - Malformation syndrome - - - - - - - - 141333 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141333 - Biemond syndrome type 2 - - Disease - - - - - - - - 217017 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217017 - Zechi-Ceide syndrome - - Malformation syndrome - - - - - - - - 217340 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217340 - 17q21.31 microduplication syndrome - - Malformation syndrome - - - - - - - - 217346 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217346 - 19q13.11 microdeletion syndrome - - Malformation syndrome - - - - - - - - 217377 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217377 - Microduplication Xp11.22p11.23 syndrome - - Malformation syndrome - - - - - - - - 217385 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217385 - 17p13.3 microduplication syndrome - - Malformation syndrome - - - - - - - - 221120 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221120 - Pseudoaminopterin syndrome - - Malformation syndrome - - - - - - - - 228402 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228402 - 2q23.1 microdeletion syndrome - - Malformation syndrome - - - - - - - - 228426 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228426 - Syndromic multisystem autoimmune disease due to Itch deficiency - - Disease - - - - - - - - 324416 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324416 - Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome - - Malformation syndrome - - - - - - - - 324540 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324540 - Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome - - Malformation syndrome - - - - - - - - 324761 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324761 - Microcephalic primordial dwarfism - - Clinical group - - - - - - 808 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=808 - Seckel syndrome - - Malformation syndrome - - - - - - - - 2554 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2554 - Ear-patella-short stature syndrome - - Malformation syndrome - - - - - - - - 2643 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2643 - Microcephalic primordial dwarfism, Toriello type - - Malformation syndrome - - - - - - - - 2636 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2636 - Microcephalic osteodysplastic primordial dwarfism types I and III - - Malformation syndrome - - - - - - - - 2637 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2637 - Microcephalic osteodysplastic primordial dwarfism type II - - Malformation syndrome - - - - - - - - 85172 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85172 - Microcephalic osteodysplastic dysplasia, Saul-Wilson type - - Disease - - - - - - - - 319671 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319671 - Alazami syndrome - - Malformation syndrome - - - - - - - - 319675 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319675 - Microcephalic primordial dwarfism, Dauber type - - Malformation syndrome - - - - - - - - 329228 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329228 - Microcephalic primordial dwarfism due to ZNF335 deficiency - - Malformation syndrome - - - - - - - - 468631 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=468631 - Microcephalic cortical malformations-short stature due to RTTN deficiency - - Malformation syndrome - - - - - - - - 658595 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=658595 - DNMT3A-related microcephalic dwarfism - - Malformation syndrome - - - - - - - - 572761 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572761 - DONSON-related microcephaly-short stature-limb abnormalities spectrum - - Malformation syndrome - - - - - - 572768 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572768 - Microcephaly-micromelia syndrome - - Clinical subtype - - - - - - - - 572773 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572773 - Microcephaly-short stature-limb abnormalities syndrome - - Clinical subtype - - - - - - - - - - - - 329224 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329224 - Schuurs-Hoeijmakers syndrome - - Malformation syndrome - - - - - - - - 329332 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329332 - Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome - - Malformation syndrome - - - - - - - - 329802 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329802 - 5p13 microduplication syndrome - - Malformation syndrome - - - - - - - - 352490 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352490 - Autism spectrum disorder due to AUTS2 deficiency - - Disease - - - - - - - - 352577 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352577 - Bainbridge-Ropers syndrome - - Disease - - - - - - - - 352587 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352587 - Focal epilepsy-intellectual disability-cerebro-cerebellar malformation - - Disease - - - - - - - - 357001 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357001 - 19p13.13 microdeletion syndrome - - Malformation syndrome - - - - - - - - 357175 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357175 - Short ulna-dysmorphism-hypotonia-intellectual disability syndrome - - Malformation syndrome - - - - - - - - 363444 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363444 - THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome - - Malformation syndrome - - - - - - - - 352530 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352530 - Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome - - Disease - - - - - - - - 363528 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363528 - Intellectual disability-strabismus syndrome - - Disease - - - - - - - - 369939 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369939 - Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome - - Malformation syndrome - - - - - - - - 391372 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391372 - FOXP1 Syndrome - - Malformation syndrome - - - - - - - - 391408 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391408 - Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome - - Disease - - - - - - - - 401973 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401973 - MEND syndrome - - Malformation syndrome - - - - - - - - 870 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=870 - Down syndrome - - Malformation syndrome - - - - - - - - 908 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=908 - Fragile X syndrome - - Malformation syndrome - - - - - - - - 904 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=904 - Williams syndrome - - Malformation syndrome - - - - - - - - 280 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280 - Wolf-Hirschhorn syndrome - - Malformation syndrome - - - - - - - - 783 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=783 - Rubinstein-Taybi syndrome - - Malformation syndrome - - - - - - 353277 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353277 - Rubinstein-Taybi syndrome due to CREBBP mutations - - Etiological subtype - - - - - - - - 353281 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353281 - Rubinstein-Taybi syndrome due to 16p13.3 microdeletion - - Etiological subtype - - - - - - - - 353284 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353284 - Rubinstein-Taybi syndrome due to EP300 haploinsufficiency - - Etiological subtype - - - - - - - - - - 893 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=893 - WAGR syndrome - - Malformation syndrome - - - - - - - - 192 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=192 - Coffin-Lowry syndrome - - Malformation syndrome - - - - - - - - 199 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199 - Cornelia de Lange syndrome - - Malformation syndrome - - - - - - - - 2162 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2162 - Holoprosencephaly - - Malformation syndrome - - - - - - 93924 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93924 - Lobar holoprosencephaly - - Clinical subtype - - - - - - - - 93925 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93925 - Alobar holoprosencephaly - - Clinical subtype - - - - - - - - 93926 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93926 - Midline interhemispheric variant of holoprosencephaly - - Clinical subtype - - - - - - - - 220386 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220386 - Semilobar holoprosencephaly - - Clinical subtype - - - - - - - - 280195 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280195 - Septopreoptic holoprosencephaly - - Clinical subtype - - - - - - - - - - 1465 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1465 - Coffin-Siris syndrome - - Malformation syndrome - - - - - - - - 1947 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1947 - Northern epilepsy - - Clinical subtype - - - - - - - - 2773 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2773 - Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome - - Malformation syndrome - - - - - - - - 3085 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3085 - Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome - - Malformation syndrome - - - - - - - - 819 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=819 - Smith-Magenis syndrome - - Malformation syndrome - - - - - - - - 36 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36 - Acrocallosal syndrome - - Malformation syndrome - - - - - - - - 193 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=193 - Cohen syndrome - - Malformation syndrome - - - - - - - - 1488 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1488 - Cooper-Jabs syndrome - - Malformation syndrome - - - - - - - - 235 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=235 - Dubowitz syndrome - - Malformation syndrome - - - - - - - - 2233 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2233 - Hypogonadism-mitral valve prolapse-intellectual disability syndrome - - Disease - - - - - - - - 502 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=502 - Trichorhinophalangeal syndrome type 2 - - Malformation syndrome - - - - - - - - 2377 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2377 - Laurence-Moon syndrome - - Malformation syndrome - - - - - - - - 3071 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3071 - Costello syndrome - - Malformation syndrome - - - - - - - - 1762 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1762 - Proximal Xq28 duplication syndrome - - Malformation syndrome - - - - - - - - 1948 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1948 - Epilepsy-microcephaly-skeletal dysplasia syndrome - - Malformation syndrome - - - - - - - - 1951 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1951 - Epilepsy-telangiectasia syndrome - - Disease - - - - - - - - 7 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=7 - 3C syndrome - - Malformation syndrome - - - - - - - - 990 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=990 - Agnathia-holoprosencephaly-situs inversus syndrome - - Malformation syndrome - - - - - - - - 2107 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2107 - Hall-Riggs syndrome - - Malformation syndrome - - - - - - - - 2115 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2115 - Harrod syndrome - - Malformation syndrome - - - - - - - - 2117 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2117 - Hartsfield syndrome - - Malformation syndrome - - - - - - - - 2136 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2136 - Hennekam syndrome - - Malformation syndrome - - - - - - - - 2139 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2139 - Hernández-Aguirre Negrete syndrome - - Malformation syndrome - - - - - - - - 2278 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2278 - Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome - - Malformation syndrome - - - - - - - - 2282 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2282 - Dysmorphism-short stature-deafness-difference of sex development syndrome - - Malformation syndrome - - - - - - - - 2315 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2315 - Johanson-Blizzard syndrome - - Malformation syndrome - - - - - - - - 2316 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2316 - Johnson neuroectodermal syndrome - - Malformation syndrome - - - - - - - - 2322 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2322 - Kabuki syndrome - - Malformation syndrome - - - - - - - - 2323 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2323 - Sanjad-Sakati syndrome - - Malformation syndrome - - - - - - - - 2489 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2489 - Upper limb defect-eye and ear abnormalities syndrome - - Malformation syndrome - - - - - - - - 3044 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3044 - Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome - - Malformation syndrome - - - - - - - - 3186 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3186 - Holoprosencephaly-radial heart renal anomalies syndrome - - Malformation syndrome - - - - - - - - 3199 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3199 - Stimmler syndrome - - Malformation syndrome - - - - - - - - 3219 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3219 - Fountain syndrome - - Malformation syndrome - - - - - - - - 3224 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3224 - Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome - - Malformation syndrome - - - - - - - - 3242 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3242 - Renpenning syndrome - - Malformation syndrome - - - - - - 93945 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93945 - X-linked intellectual disability, Porteous type - - Clinical subtype - - - - - - - - 93946 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93946 - Hamel cerebro-palato-cardiac syndrome - - Clinical subtype - - - - - - - - 93947 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93947 - X-linked intellectual disability, Golabi-Ito-Hall type - - Clinical subtype - - - - - - - - 93950 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93950 - X-linked intellectual disability, Sutherland-Haan type - - Clinical subtype - - - - - - - - - - 3255 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3255 - Filippi syndrome - - Malformation syndrome - - - - - - - - 363611 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363611 - CTCF-related neurodevelopmental disorder - - Disease - - - - - - - - 363659 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363659 - 20q11.2 microduplication syndrome - - Malformation syndrome - - - - - - - - 363680 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363680 - 2p13.2 microdeletion syndrome - - Malformation syndrome - - - - - - - - 363686 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363686 - Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome - - Disease - - - - - - - - 363705 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363705 - Craniofaciofrontodigital syndrome - - Disease - - - - - - - - 363741 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363741 - Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome - - Disease - - - - - - - - 364028 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=364028 - X-linked intellectual disability due to GRIA3 mutations - - Disease - - - - - - - - 364577 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=364577 - Intellectual disability-brachydactyly-Pierre Robin syndrome - - Malformation syndrome - - - - - - - - 369837 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369837 - Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome - - Malformation syndrome - - - - - - - - 369891 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369891 - Developmental delay-facial dysmorphism syndrome due to MED13L deficiency - - Malformation syndrome - - - - - - - - 369950 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369950 - Intellectual disability-seizures-macrocephaly-obesity syndrome - - Disease - - - - - - - - 370010 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370010 - Intellectual disability-facial dysmorphism-hand anomalies syndrome - - Malformation syndrome - - - - - - - - 370927 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370927 - SSR4-CDG - - Disease - - - - - - - - 370930 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370930 - XYLT1-CDG - - Disease - - - - - - - - 371364 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=371364 - Hypotonia-speech impairment-severe cognitive delay syndrome - - Disease - - - - - - 700333 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700333 - Hypotonia-speech impairment-severe cognitive delay syndrome due to UNC80 deficiency - - Clinical subtype - - - - - - - - 700336 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700336 - Hypotonia-speech impairment-severe cognitive delay syndrome due to NALCN deficiency - - Clinical subtype - - - - - - - - - - 391307 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391307 - Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome - - Malformation syndrome - - - - - - - - 397612 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397612 - Macrocephaly-developmental delay syndrome - - Malformation syndrome - - - - - - - - 397709 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397709 - Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome - - Malformation syndrome - - - - - - - - 397951 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397951 - Microcephaly-thin corpus callosum-intellectual disability syndrome - - Disease - - - - - - - - 397973 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397973 - Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome - - Disease - - - - - - - - 401923 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401923 - 9q31.1q31.3 microdeletion syndrome - - Malformation syndrome - - - - - - - - 401935 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401935 - 14q24.1q24.3 microdeletion syndrome - - Malformation syndrome - - - - - - - - 404443 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404443 - Tatton-Brown-Rahman syndrome - - Malformation syndrome - - - - - - - - 404448 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404448 - ADNP syndrome - - Malformation syndrome - - - - - - - - 404451 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404451 - FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome - - Malformation syndrome - - - - - - - - 404473 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404473 - Intellectual disability-peripheral spasticity-exudative vitreoretinopathy syndrome - - Malformation syndrome - - - - - - - - 411986 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411986 - Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome - - Malformation syndrome - - - - - - - - 412035 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=412035 - 13q12.3 microdeletion syndrome - - Malformation syndrome - - - - - - - - 420561 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420561 - Temple-Baraitser syndrome - - Disease - - - - - - - - 420794 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420794 - Cono-spondylar dysplasia - - Malformation syndrome - - - - - - - - 423306 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423306 - Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome - - Malformation syndrome - - - - - - - - 567 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=567 - 22q11.2 deletion syndrome - - Malformation syndrome - - - - - - - - 739 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=739 - Prader-Willi syndrome - - Disease - - - - - - 98754 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98754 - Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 - - Etiological subtype - - - - - - - - 98793 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98793 - Prader-Willi syndrome due to paternal 15q11q13 deletion - - Etiological subtype - - - - - - 177901 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=177901 - Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 - - Etiological subtype - - - - - - - - 177904 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=177904 - Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 - - Etiological subtype - - - - - - - - - - 177907 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=177907 - Prader-Willi syndrome due to translocation - - Etiological subtype - - - - - - - - 177910 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=177910 - Prader-Willi syndrome due to imprinting mutation - - Etiological subtype - - - - - - - - - - 648 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=648 - Noonan syndrome - - Malformation syndrome - - - - - - - - 568 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=568 - Microphthalmia, Lenz type - - Malformation syndrome - - - - - - - - 915 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=915 - Aarskog-Scott syndrome - - Malformation syndrome - - - - - - - - 2135 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2135 - Cutaneous mastocytosis-deafness-microtia syndrome - - Malformation syndrome - - - - - - - - 570 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=570 - Moebius syndrome - - Disease - - - - - - - - 813 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=813 - Silver-Russell syndrome - - Disease - - - - - - 96182 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96182 - Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 - - Etiological subtype - - - - - - - - 231137 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231137 - Silver-Russell syndrome due to 7p11.2p13 microduplication - - Etiological subtype - - - - - - - - 231140 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231140 - Silver-Russell syndrome due to an imprinting defect of 11p15 - - Etiological subtype - - - - - - - - 231144 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231144 - Silver-Russell syndrome due to 11p15 microduplication - - Etiological subtype - - - - - - - - 231147 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231147 - Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 - - Etiological subtype - - - - - - - - 397590 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397590 - Silver-Russell syndrome due to a point mutation - - Etiological subtype - - - - - - - - - - 821 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=821 - Sotos syndrome - - Disease - - - - - - - - 920 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=920 - Ablepharon macrostomia syndrome - - Malformation syndrome - - - - - - - - 989 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=989 - Hypoglossia-hypodactyly syndrome - - Malformation syndrome - - - - - - - - 1307 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1307 - Distal limb deficiencies-micrognathia syndrome - - Malformation syndrome - - - - - - - - 1318 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1318 - Campomelia, Cumming type - - Malformation syndrome - - - - - - - - 2108 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2108 - Hallermann-Streiff syndrome - - Malformation syndrome - - - - - - - - 2109 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2109 - Hallermann-Streiff-like syndrome - - Malformation syndrome - - - - - - - - 2143 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2143 - Donnai-Barrow syndrome - - Malformation syndrome - - - - - - - - 2180 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2180 - Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome - - Malformation syndrome - - - - - - - - 2306 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2306 - Isotretinoin-like syndrome - - Malformation syndrome - - - - - - - - 2514 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2514 - Autosomal dominant primary microcephaly - - Etiological subtype - - - - - - - - 2701 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2701 - Noonan syndrome-like disorder with loose anagen hair - - Malformation syndrome - - - - - - - - 3163 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3163 - SHORT syndrome - - Malformation syndrome - - - - - - - - 3338 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3338 - Toriello-Carey syndrome - - Malformation syndrome - - - - - - - - 2326 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2326 - Kallmann syndrome-heart disease syndrome - - Malformation syndrome - - - - - - - - 198 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=198 - Occipital horn syndrome - - Disease - - - - - - - - 42775 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=42775 - PHACE syndrome - - Malformation syndrome - - - - - - - - 46627 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=46627 - Char syndrome - - Malformation syndrome - - - - - - - - 69737 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69737 - Bosley-Salih-Alorainy syndrome - - Malformation syndrome - - - - - - - - 77298 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77298 - Anophthalmia/microphthalmia-esophageal atresia syndrome - - Malformation syndrome - - - - - - - - 221139 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221139 - Combined immunodeficiency with facio-oculo-skeletal anomalies - - Disease - - - - - - - - 228410 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228410 - Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome - - Malformation syndrome - - - - - - 664404 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=664404 - 6q25.1 microdeletion syndrome - - Etiological subtype - - - - - - - - 664401 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=664401 - Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome due to TAB2 mutation - - Etiological subtype - - - - - - - - - - 353298 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353298 - Roifman syndrome - - Disease - - - - - - - - 398073 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398073 - Prader-Willi-like syndrome - - Clinical group - - - - - - 633028 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=633028 - CPE-related Prader-Willi-like syndrome - - Disease - - - - - - - - 171829 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171829 - 6q16 microdeletion syndrome - - Disease - - - - - - - - 398079 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398079 - SIM1-related Prader-Willi-like syndrome - - Disease - - - - - - - - 398069 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398069 - Schaaf-Yang syndrome - - Disease - - - - - - - - - - 401986 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401986 - 1p31p32 microdeletion syndrome - - Malformation syndrome - - - - - - - - 420179 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420179 - Malan overgrowth syndrome - - Malformation syndrome - - - - - - - - 950 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=950 - Acrodysostosis - - Malformation syndrome - - - - - - - - 337 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=337 - Fibrodysplasia ossificans progressiva - - Disease - - - - - - - - 220493 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220493 - Joubert syndrome with ocular defect - - Malformation syndrome - - - - - - - - 2512 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2512 - Autosomal recessive primary microcephaly - - Etiological subtype - - - - - - - - 1052 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1052 - Mosaic variegated aneuploidy syndrome - - Malformation syndrome - - - - - - - - 2318 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2318 - Joubert syndrome with oculorenal defect - - Malformation syndrome - - - - - - - - 35107 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35107 - Desmosterolosis - - Disease - - - - - - - - 239 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=239 - Dyggve-Melchior-Clausen disease - - Disease - - - - - - - - 1493 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1493 - Vici syndrome - - Malformation syndrome - - - - - - - - 84 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=84 - Fanconi anemia - - Malformation syndrome - - - - - - - - 87 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=87 - Apert syndrome - - Malformation syndrome - - - - - - - - 647 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=647 - Nijmegen breakage syndrome - - Malformation syndrome - - - - - - - - 220497 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220497 - Joubert syndrome with renal defect - - Malformation syndrome - - - - - - - - 912 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=912 - Zellweger syndrome - - Disease - - - - - - - - 46059 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=46059 - Lathosterolosis - - Disease - - - - - - - - 1496 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1496 - Corpus callosum agenesis-neuronopathy syndrome - - Disease - - - - - - - - 2209 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2209 - Maternal phenylketonuria syndrome - - Malformation syndrome - - - - - - - - 411493 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411493 - Pontocerebellar hypoplasia type 10 - - Malformation syndrome - - - - - - - - 217335 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217335 - RIN2 syndrome - - Malformation syndrome - - - - - - - - 974 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=974 - Adams-Oliver syndrome - - Malformation syndrome - - - - - - - - 228390 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228390 - Frontonasal dysplasia-alopecia-genital anomalies syndrome - - Malformation syndrome - - - - - - - - 1667 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1667 - Wolcott-Rallison syndrome - - Disease - - - - - - - - 3103 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3103 - Roberts syndrome - - Malformation syndrome - - - - - - - - 811 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=811 - Shwachman-Diamond syndrome - - Disease - - - - - - - - 613267 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=613267 - Pontocerebellar hypoplasia type 13 - - Malformation syndrome - - - - - - - - 613274 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=613274 - Pontocerebellar hypoplasia type 14 - - Malformation syndrome - - - - - - - - 619233 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=619233 - Hereditary persistence of fetal hemoglobin-intellectual disability syndrome - - Disease - - - - - - - - 633004 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=633004 - KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome - - Disease - - - - - - - - 633035 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=633035 - Intellectual disability-early-onset cataract-microcephaly syndrome - - Malformation syndrome - - - - - - - - 632603 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=632603 - Mesomelic dysplasia-digital anomalies-intellectual disability syndrome - - Malformation syndrome - - - - - - - - 642675 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642675 - CHD8 overgrowth syndrome - - Disease - - - - - - - - 662234 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662234 - Neurodevelopmental delay-congenital heart defects-intellectual disability syndrome - - Malformation syndrome - - - - - - - - 1520 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1520 - Craniofrontonasal dysplasia - - Malformation syndrome - - - - - - - - 1568 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1568 - X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome - - Malformation syndrome - - - - - - - - 847 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=847 - X-linked alpha-thalassemia-intellectual disability syndrome - - Malformation syndrome - - - - - - - - 373 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=373 - Simpson-Golabi-Behmel syndrome - - Malformation syndrome - - - - - - - - 709 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=709 - Peters plus syndrome - - Malformation syndrome - - - - - - - - 776 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=776 - Lujan-Fryns syndrome - - Malformation syndrome - - - - - - - - 1473 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1473 - Uveal coloboma-cleft lip and palate-intellectual disability - - Malformation syndrome - - - - - - - - 1078 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1078 - Thumb stiffness-brachydactyly-intellectual disability syndrome - - Malformation syndrome - - - - - - - - 1110 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1110 - Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome - - Malformation syndrome - - - - - - - - 1131 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1131 - X-linked mandibulofacial dysostosis - - Malformation syndrome - - - - - - - - 1184 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1184 - Ataxia-photosensitivity-short stature syndrome - - Malformation syndrome - - - - - - - - 1193 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1193 - Atkin-Flaitz syndrome - - Malformation syndrome - - - - - - - - 109 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=109 - Bannayan-Riley-Ruvalcaba syndrome - - Clinical subtype - - - - - - - - 1229 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1229 - Congenital intrauterine infection-like syndrome - - Malformation syndrome - - - - - - - - 1236 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1236 - Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome - - Malformation syndrome - - - - - - - - 1252 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1252 - Blepharonasofacial malformation syndrome - - Malformation syndrome - - - - - - - - 1261 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1261 - Bonnemann-Meinecke-Reich syndrome - - Malformation syndrome - - - - - - - - 127 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=127 - Borjeson-Forssman-Lehmann syndrome - - Malformation syndrome - - - - - - - - 1270 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1270 - Bowen-Conradi syndrome - - Malformation syndrome - - - - - - - - 1296 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1296 - Lambert syndrome - - Malformation syndrome - - - - - - - - 1299 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1299 - Branchioskeletogenital syndrome - - Malformation syndrome - - - - - - - - 1305 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1305 - Feingold syndrome - - Malformation syndrome - - - - - - 391641 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391641 - Feingold syndrome type 1 - - Clinical subtype - - - - - - - - 391646 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391646 - Feingold syndrome type 2 - - Clinical subtype - - - - - - - - - - 1321 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1321 - Camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome - - Malformation syndrome - - - - - - - - 1340 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1340 - Cardiofaciocutaneous syndrome - - Malformation syndrome - - - - - - - - 1355 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1355 - Congenital heart defect-round face-developmental delay syndrome - - Malformation syndrome - - - - - - - - 1381 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1381 - Cataract-intellectual disability-anal atresia-urinary defects syndrome - - Malformation syndrome - - - - - - - - 1387 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1387 - Cataract-intellectual disability-hypogonadism syndrome - - Malformation syndrome - - - - - - - - 1388 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1388 - Catel-Manzke syndrome - - Malformation syndrome - - - - - - - - 1389 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1389 - Cortical blindness-intellectual disability-polydactyly syndrome - - Malformation syndrome - - - - - - - - 1394 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1394 - Cerebrofaciothoracic dysplasia - - Malformation syndrome - - - - - - - - 1399 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1399 - Richards-Rundle syndrome - - Malformation syndrome - - - - - - - - 1548 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1548 - Cryptorchidism-arachnodactyly-intellectual disability syndrome - - Malformation syndrome - - - - - - - - 1777 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1777 - Temtamy syndrome - - Malformation syndrome - - - - - - - - 1786 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1786 - Acrofacial dysostosis, Catania type - - Malformation syndrome - - - - - - - - 1788 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1788 - Acrofacial dysostosis, Rodríguez type - - Malformation syndrome - - - - - - - - 2804 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2804 - W syndrome - - Malformation syndrome - - - - - - - - 2865 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2865 - Short stature-webbed neck-heart disease syndrome - - Malformation syndrome - - - - - - - - 2871 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2871 - Pfeiffer-Palm-Teller syndrome - - Malformation syndrome - - - - - - - - 2872 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2872 - Cardiocranial syndrome, Pfeiffer type - - Malformation syndrome - - - - - - - - 2896 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2896 - Pitt-Hopkins syndrome - - Malformation syndrome - - - - - - - - 85286 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85286 - X-linked intellectual disability, Shashi type - - Malformation syndrome - - - - - - - - 85287 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85287 - X-linked intellectual disability, Siderius type - - Malformation syndrome - - - - - - - - 85293 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85293 - X-linked intellectual disability, Cabezas type - - Malformation syndrome - - - - - - - - 96125 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96125 - Distal deletion 6p syndrome - - Malformation syndrome - - - - - - - - 96169 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96169 - Koolen-De Vries syndrome - - Malformation syndrome - - - - - - 363958 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363958 - 17q21.31 microdeletion syndrome - - Etiological subtype - - - - - - - - 363965 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363965 - Koolen-De Vries syndrome due to a point mutation - - Etiological subtype - - - - - - - - - - 97297 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97297 - Bohring-Opitz syndrome - - Malformation syndrome - - - - - - - - 199318 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199318 - 15q13.3 microdeletion syndrome - - Malformation syndrome - - - - - - - - 1239 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1239 - Behr syndrome - - Malformation syndrome - - - - - - - - 627 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=627 - Nance-Horan syndrome - - Malformation syndrome - - - - - - - - 140 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140 - Campomelic dysplasia - - Malformation syndrome - - - - - - - - 1106 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1106 - Microphthalmia with limb anomalies - - Malformation syndrome - - - - - - - - 83 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83 - Antley-Bixler syndrome - - Malformation syndrome - - - - - - 63269 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=63269 - Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis - - Clinical subtype - - - - - - - - 596008 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=596008 - Antley-Bixler syndrome without genital anomaly or disorder of steroidogenesis - - Clinical subtype - - - - - - - - - - 1292 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1292 - Brachymorphism-onychodysplasia-dysphalangism syndrome - - Malformation syndrome - - - - - - - - 72 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=72 - Angelman syndrome - - Malformation syndrome - - - - - - 98794 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98794 - Angelman syndrome due to maternal 15q11q13 deletion - - Etiological subtype - - - - - - - - 98795 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98795 - Angelman syndrome due to paternal uniparental disomy of chromosome 15 - - Etiological subtype - - - - - - - - 411511 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411511 - Angelman syndrome due to a point mutation - - Etiological subtype - - - - - - - - 411515 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411515 - Angelman syndrome due to imprinting defect in 15q11-q13 - - Etiological subtype - - - - - - - - - - 2983 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2983 - Difference of sex development-intellectual disability syndrome - - Disease - - - - - - - - 191 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=191 - Cockayne syndrome - - Disease - - - - - - 1466 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1466 - COFS syndrome - - Clinical subtype - - - - - - - - 90321 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90321 - Cockayne syndrome type 1 - - Clinical subtype - - - - - - - - 90322 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90322 - Cockayne syndrome type 2 - - Clinical subtype - - - - - - - - 90324 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90324 - Cockayne syndrome type 3 - - Clinical subtype - - - - - - - - - - 10 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=10 - 48,XXYY syndrome - - Malformation syndrome - - - - - - - - 1438 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1438 - Ring chromosome 10 syndrome - - Malformation syndrome - - - - - - - - 1713 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1713 - 17p11.2 microduplication syndrome - - Malformation syndrome - - - - - - - - 1001 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1001 - 2q37 microdeletion syndrome - - Malformation syndrome - - - - - - - - 1005 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1005 - Alopecia-contractures-dwarfism-intellectual disability syndrome - - Malformation syndrome - - - - - - - - 1067 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1067 - Aniridia-ptosis-intellectual disability-familial obesity syndrome - - Malformation syndrome - - - - - - - - 1068 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1068 - Aniridia-intellectual disability syndrome - - Malformation syndrome - - - - - - - - 1484 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1484 - Contractures-ectodermal dysplasia-cleft lip/palate syndrome - - Malformation syndrome - - - - - - - - 1809 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1809 - Hidrotic ectodermal dysplasia, Halal type - - Malformation syndrome - - - - - - - - 1858 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1858 - Skeletal dysplasia-epilepsy-short stature syndrome - - Malformation syndrome - - - - - - - - 1816 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1816 - Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome - - Malformation syndrome - - - - - - - - 2031 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2031 - Hepatic fibrosis-renal cysts-intellectual disability syndrome - - Malformation syndrome - - - - - - - - 2065 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2065 - Galloway-Mowat syndrome - - Malformation syndrome - - - - - - - - 2090 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2090 - GMS syndrome - - Malformation syndrome - - - - - - - - 2101 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2101 - Grubben-de Cock-Borghgraef syndrome - - Malformation syndrome - - - - - - - - 2149 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2149 - Nodular neuronal heterotopia - - Morphological anomaly - - - - - - 98892 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98892 - Periventricular nodular heterotopia - - Clinical subtype - - - - - - - - 101029 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101029 - Sub-cortical nodular heterotopia - - Clinical subtype - - - - - - - - 101030 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101030 - Subependymal nodular heterotopia - - Clinical subtype - - - - - - - - - - 2266 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2266 - Hypotrichosis-intellectual disability, Lopes type - - Disease - - - - - - - - 2324 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2324 - Osteopenia-intellectual disability-sparse hair syndrome - - Malformation syndrome - - - - - - - - 2479 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2479 - Megalocornea-intellectual disability syndrome - - Malformation syndrome - - - - - - - - - - 611314 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=611314 - Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome - - Category - - - - - - 610573 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=610573 - CLCN6-related childhood-onset progressive neurodegeneration-peripheral neuropathy syndrome - - Disease - - - - - - - - 611216 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=611216 - Aplastic anemia-intellectual disability-dwarfism syndrome - - Disease - - - - - - - - 289504 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289504 - Combined malonic and methylmalonic acidemia - - Disease - - - - - - - - 139485 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139485 - Autosomal recessive ataxia due to ubiquinone deficiency - - Disease - - - - - - - - 494526 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=494526 - Infantile-onset generalized dyskinesia with orofacial involvement - - Disease - - - - - - - - 502423 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=502423 - Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome - - Disease - - - - - - - - 1008 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1008 - Alopecia-epilepsy-pyorrhea-intellectual disability syndrome - - Disease - - - - - - - - 1188 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1188 - Ataxia-deafness-intellectual disability syndrome - - Malformation syndrome - - - - - - - - 3068 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3068 - Intellectual disability-myopathy-short stature-endocrine defect syndrome - - Disease - - - - - - - - 1187 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1187 - Lethal ataxia with deafness and optic atrophy - - Disease - - - - - - - - 206428 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206428 - Hypoxanthine-guanine phosphoribosyltransferase deficiency - - Clinical group - - - - - - 510 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=510 - Lesch-Nyhan syndrome - - Disease - - - - - - - - 79233 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79233 - Hypoxanthine guanine phosphoribosyltransferase partial deficiency - - Disease - - - - - - - - - - 168577 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168577 - Hereditary cryohydrocytosis with reduced stomatin - - Disease - - - - - - - - 171851 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171851 - MEDNIK syndrome - - Disease - - - - - - - - 363623 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363623 - GMPPB-related limb-girdle muscular dystrophy R19 - - Disease - - - - - - - - 199343 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199343 - EAST syndrome - - Disease - - - - - - - - 488635 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488635 - Early-onset epilepsy-intellectual disability-brain anomalies syndrome - - Disease - - - - - - - - 496756 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=496756 - Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome - - Disease - - - - - - - - 496790 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=496790 - Ocular anomalies-axonal neuropathy-developmental delay syndrome - - Disease - - - - - - - - 497623 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=497623 - C12ORF65-related combined oxidative phosphorylation defect - - Clinical group - - - - - - 254930 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254930 - Combined oxidative phosphorylation defect type 7 - - Disease - - - - - - - - 320375 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=320375 - Autosomal recessive spastic paraplegia type 55 - - Disease - - - - - - - - - - 500180 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500180 - Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder - - Disease - - - - - - - - 500545 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500545 - Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract - - Disease - - - - - - - - 505216 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=505216 - 3-methylglutaconic aciduria type 9 - - Disease - - - - - - - - 505652 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=505652 - CDKL5-deficiency disorder - - Disease - - - - - - - - 506353 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=506353 - Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction - - Disease - - - - - - - - 512260 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=512260 - Congenital cerebellar ataxia due to RNU12 mutation - - Disease - - - - - - - - 521390 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521390 - Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome - - Malformation syndrome - - - - - - - - 521406 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521406 - Dystonia-parkinsonism-hypermanganesemia syndrome - - Disease - - - - - - - - 522077 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=522077 - Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome - - Disease - - - - - - - - 527276 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=527276 - Encephalopathy due to mitochondrial and peroxisomal fission defect - - Disease - - - - - - 330050 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=330050 - DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect - - Etiological subtype - - - - - - - - 485421 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=485421 - MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect - - Etiological subtype - - - - - - - - - - 527497 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=527497 - NKX6-2-related autosomal recessive hypomyelinating leukodystrophy - - Disease - - - - - - - - 620363 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=620363 - Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome - - Disease - - - - - - - - 3464 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3464 - Woodhouse-Sakati syndrome - - Disease - - - - - - - - 2379 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2379 - Early-onset parkinsonism-intellectual disability syndrome - - Disease - - - - - - - - 541423 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=541423 - Growth delay-intellectual disability-hepatopathy syndrome - - Disease - - - - - - - - 599373 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=599373 - STXBP1-related encephalopathy - - Disease - - - - - - - - 2169 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2169 - Methylcobalamin deficiency type cblE - - Clinical subtype - - - - - - - - 420741 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420741 - RIDDLE syndrome - - Malformation syndrome - - - - - - - - 2255 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2255 - Pancreatic hypoplasia-diabetes-congenital heart disease syndrome - - Disease - - - - - - - - 3157 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3157 - Septo-optic dysplasia spectrum - - Malformation syndrome - - - - - - - - 27 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=27 - Vitamin B12-unresponsive methylmalonic acidemia - - Disease - - - - - - 79312 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79312 - Vitamin B12-unresponsive methylmalonic acidemia type mut- - - Clinical subtype - - - - - - - - 289916 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289916 - Vitamin B12-unresponsive methylmalonic acidemia type mut0 - - Clinical subtype - - - - - - - - - - 494433 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=494433 - MIRAGE syndrome - - Disease - - - - - - - - 511 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=511 - Maple syrup urine disease - - Disease - - - - - - 268145 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268145 - Classic maple syrup urine disease - - Clinical subtype - - - - - - - - 268162 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268162 - Intermediate maple syrup urine disease - - Clinical subtype - - - - - - - - 268173 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268173 - Intermittent maple syrup urine disease - - Clinical subtype - - - - - - - - 268184 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268184 - Thiamine-responsive maple syrup urine disease - - Clinical subtype - - - - - - - - - - 1571 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1571 - Knobloch syndrome - - Malformation syndrome - - - - - - - - 505208 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=505208 - 3-methylglutaconic aciduria type 8 - - Disease - - - - - - - - 2780 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2780 - Osteopathia striata-cranial sclerosis syndrome - - Malformation syndrome - - - - - - - - 71278 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71278 - Congenital brain dysgenesis due to glutamine synthetase deficiency - - Disease - - - - - - - - 168598 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168598 - Methionine adenosyltransferase I/III deficiency - - Disease - - - - - - - - 370921 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370921 - STT3A-CDG - - Disease - - - - - - - - 542306 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=542306 - GNB5-related intellectual disability-cardiac arrhythmia syndrome - - Disease - - - - - - - - 589830 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589830 - Adult-onset Steinert myotonic dystrophy - - Clinical subtype - - - - - - - - 600663 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=600663 - NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance - - Malformation syndrome - - - - - - - - 93 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93 - Aspartylglucosaminuria - - Disease - - - - - - - - 79320 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79320 - ALG6-CDG - - Disease - - - - - - - - 401810 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401810 - Autosomal recessive spastic paraplegia type 64 - - Disease - - - - - - - - 90045 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90045 - Hereditary folate malabsorption - - Disease - - - - - - - - 314603 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314603 - Autosomal recessive spastic ataxia with leukoencephalopathy - - Disease - - - - - - - - 805 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=805 - Tuberous sclerosis complex - - Disease - - - - - - - - 3222 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3222 - Phosphoribosylpyrophosphate synthetase superactivity - - Disease - - - - - - 411536 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411536 - Mild phosphoribosylpyrophosphate synthetase superactivity - - Clinical subtype - - - - - - - - 411543 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411543 - Severe phosphoribosylpyrophosphate synthetase superactivity - - Clinical subtype - - - - - - - - - - 98791 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98791 - Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 - - Malformation syndrome - - - - - - - - 599376 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=599376 - Hypomyelination of early myelinating structures - - Disease - - - - - - - - 22 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=22 - Succinic semialdehyde dehydrogenase deficiency - - Disease - - - - - - - - 349 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=349 - Fucosidosis - - Disease - - - - - - - - 118 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=118 - Beta-mannosidosis - - Disease - - - - - - - - 812 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=812 - Sialidosis type 1 - - Disease - - - - - - - - 791 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=791 - Retinitis pigmentosa - - Disease - - - - - - - - 333 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=333 - Farber disease - - Disease - - - - - - - - 320396 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=320396 - Autosomal recessive spastic paraplegia type 45 - - Disease - - - - - - - - 70594 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70594 - Dopa-responsive dystonia due to sepiapterin reductase deficiency - - Disease - - - - - - - - 238329 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238329 - Severe X-linked mitochondrial encephalomyopathy - - Disease - - - - - - - - 816 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=816 - Sjögren-Larsson syndrome - - Disease - - - - - - - - 79239 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79239 - Classic galactosemia - - Disease - - - - - - - - 28378 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=28378 - Tyrosinemia type 2 - - Disease - - - - - - - - 3204 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3204 - Stormorken-Sjaastad-Langslet syndrome - - Disease - - - - - - - - 584 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=584 - Mucopolysaccharidosis type 7 - - Disease - - - - - - - - 578 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=578 - Mucolipidosis type IV - - Disease - - - - - - - - 3205 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3205 - Sturge-Weber syndrome - - Malformation syndrome - - - - - - - - 298 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=298 - Mitochondrial neurogastrointestinal encephalomyopathy - - Disease - - - - - - - - 123 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=123 - Björnstad syndrome - - Disease - - - - - - - - 88644 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88644 - Autosomal recessive ataxia, Beauce type - - Disease - - - - - - - - 261 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261 - Emery-Dreifuss muscular dystrophy - - Disease - - - - - - 98853 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98853 - Autosomal dominant Emery-Dreifuss muscular dystrophy - - Etiological subtype - - - - - - - - 98855 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98855 - Autosomal recessive Emery-Dreifuss muscular dystrophy - - Etiological subtype - - - - - - - - 98863 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98863 - X-linked Emery-Dreifuss muscular dystrophy - - Etiological subtype - - - - - - - - - - 834 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=834 - Free sialic acid storage disease - - Disease - - - - - - 309324 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309324 - Free sialic acid storage disease, infantile form - - Clinical subtype - - - - - - - - 309331 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309331 - Intermediate severe Salla disease - - Clinical subtype - - - - - - - - 309334 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309334 - Salla disease - - Clinical subtype - - - - - - - - - - 833 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=833 - Encephalopathy due to sulfite oxidase deficiency - - Disease - - - - - - 99731 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99731 - Isolated sulfite oxidase deficiency - - Clinical subtype - - - - - - - - 99732 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99732 - Sulfite oxidase deficiency due to molybdenum cofactor deficiency - - Clinical subtype - - - - - - 308386 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308386 - Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A - - Etiological subtype - - - - - - - - 308393 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308393 - Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B - - Etiological subtype - - - - - - - - 308400 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308400 - Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C - - Etiological subtype - - - - - - - - - - - - 909 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=909 - Cerebrotendinous xanthomatosis - - Disease - - - - - - - - 581 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=581 - Mucopolysaccharidosis type 3 - - Disease - - - - - - 79269 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79269 - Sanfilippo syndrome type A - - Etiological subtype - - - - - - - - 79270 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79270 - Sanfilippo syndrome type B - - Etiological subtype - - - - - - - - 79271 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79271 - Sanfilippo syndrome type C - - Etiological subtype - - - - - - - - 79272 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79272 - Sanfilippo syndrome type D - - Etiological subtype - - - - - - - - - - 550 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=550 - MELAS - - Disease - - - - - - - - 3008 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3008 - Pyruvate carboxylase deficiency - - Disease - - - - - - 353308 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353308 - Pyruvate carboxylase deficiency, infantile type - - Clinical subtype - - - - - - - - 353314 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353314 - Pyruvate carboxylase deficiency, severe neonatal type - - Clinical subtype - - - - - - - - 353320 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353320 - Pyruvate carboxylase deficiency, benign type - - Clinical subtype - - - - - - - - - - 641361 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=641361 - Neurodevelopmental delay-hypotonia-cerebellar ataxia-cardiac conduction defects syndrome - - Disease - - - - - - - - 641353 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=641353 - Infantile neurodegeneration-progressive spasticity-intellectual disability-white matter lesions syndrome - - Disease - - - - - - - - 32 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=32 - Glutathione synthetase deficiency - - Disease - - - - - - 289846 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289846 - Glutathione synthetase deficiency with 5-oxoprolinuria - - Clinical subtype - - - - - - - - 289849 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289849 - Glutathione synthetase deficiency without 5-oxoprolinuria - - Clinical subtype - - - - - - - - - - 633014 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=633014 - SLC12A2-related developmental delay-intellectual disability-sensorineural deafness syndrome - - Disease - - - - - - 633021 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=633021 - SLC12A2-related autosomal recessive neonatal-developmental delay-intellectual disability-feeding difficulty-sensorineural deafness syndrome - - Clinical subtype - - - - - - - - 633024 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=633024 - SLC12A2-related autosomal dominant infantile-developmental delay-intellectual disability-sensorineural deafness syndrome - - Clinical subtype - - - - - - - - - - 643549 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=643549 - Hao-Fountain syndrome - - Disease - - - - - - 643538 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=643538 - Hao-Fountain syndrome due to USP7 mutation - - Etiological subtype - - - - - - - - 500055 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500055 - Hao-Fountain syndrome due to 16p13.2 microdeletion - - Etiological subtype - - - - - - - - - - 647788 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=647788 - Neurodevelopmental delay-intellectual disability-ataxia-feeding difficulty syndrome - - Disease - - - - - - - - 647799 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=647799 - MYT1L-related developmental delay-intellectual disability-obesity syndrome - - Disease - - - - - - - - 660017 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=660017 - Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome - - Disease - - - - - - 660012 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=660012 - Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to a NR4A2 point mutation - - Etiological subtype - - - - - - - - 1617 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1617 - Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to 2q24 microdeletion - - Etiological subtype - - - - - - - - - - 662184 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662184 - Congenital muscular dystrophy-cataract-intellectual disability syndrome - - Disease - - - - - - - - 674653 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=674653 - Actinomyopathy-associated syndromic thrombocytopenia - - Disease - - - - - - - - 675767 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=675767 - Severe congenital neutropenia-developmental delay syndrome due to SRP54 deficiency - - Disease - - - - - - - - 662216 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662216 - Mucopolysaccharidosis type 10 - - Disease - - - - - - - - 662367 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662367 - NESCAV syndrome - - Disease - - - - - - - - 664511 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=664511 - Early-onset severe Hermansky-Pudlak syndrome with hearing loss, due to AP3D1 deficiency - - Clinical subtype - - - - - - - - 684240 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=684240 - Neurodevelopmental disorder-spasticity-movement disorder-epileptic syndrome - - Malformation syndrome - - - - - - - - 686999 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=686999 - Lipodystrophy-demyelinating peripheral sensory-motor neuropathy syndrome - - Disease - - - - - - - - 692173 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=692173 - Marbach-Schaaf neurodevelopmental syndrome - - Disease - - - - - - - - 695110 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=695110 - MAN2B2-CDG - - Disease - - - - - - - - 300313 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300313 - Congenital cataract-hearing loss-severe developmental delay syndrome - - Disease - - - - - - - - 695783 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=695783 - EDEM3-CDG - - Disease - - - - - - - - 697356 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=697356 - Congenital scalp aplasia cutis-enamel hypoplasia-developmental delay-intellectual disability syndrome - - Malformation syndrome - - - - - - - - 699850 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699850 - 2p25.3 microduplication syndrome - - Malformation syndrome - - - - - - - - 1065 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1065 - Aniridia-cerebellar ataxia-intellectual disability syndrome - - Malformation syndrome - - - - - - - - 3240 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3240 - Early-onset progressive leukoencephalopathy-central nervous system calcification-deafness-visual impairment syndrome - - Disease - - - - - - - - 1576 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1576 - Infantile bilateral striatal necrosis - - Clinical group - - - - - - 225147 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=225147 - Sporadic infantile bilateral striatal necrosis - - Disease - - - - - - - - 225154 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=225154 - Familial infantile bilateral striatal necrosis - - Disease - - - - - - - - - - 66631 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66631 - CEDNIK syndrome - - Disease - - - - - - - - 73272 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73272 - Growth delay due to insulin-like growth factor type 1 deficiency - - Disease - - - - - - - - 75858 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75858 - MORM syndrome - - Disease - - - - - - - - 85163 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85163 - Hypomyelination-congenital cataract syndrome - - Malformation syndrome - - - - - - - - 90103 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90103 - Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome - - Malformation syndrome - - - - - - - - 742 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=742 - Prolidase deficiency - - Disease - - - - - - - - 2435 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2435 - Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome - - Disease - - - - - - - - 93607 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93607 - Autosomal recessive proximal renal tubular acidosis - - Clinical subtype - - - - - - - - 649 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=649 - Norrie disease - - Malformation syndrome - - - - - - - - 50 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50 - Aicardi syndrome - - Disease - - - - - - - - 464 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464 - Incontinentia pigmenti - - Malformation syndrome - - - - - - - - 596 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=596 - X-linked centronuclear myopathy - - Disease - - - - - - - - 2609 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2609 - Isolated complex I deficiency - - Disease - - - - - - - - 3175 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3175 - X-linked spasticity-intellectual disability-epilepsy syndrome - - Disease - - - - - - - - 2076 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2076 - X-linked intellectual disability-epilepsy syndrome - - Clinical group - - - - - - 93952 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93952 - X-linked intellectual disability, Hedera type - - Disease - - - - - - - - 101039 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101039 - Female restricted epilepsy with intellectual disability - - Disease - - - - - - - - 163985 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163985 - Hyperekplexia-epilepsy syndrome - - Disease - - - - - - - - - - 3095 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3095 - Atypical Rett syndrome - - Disease - - - - - - - - 52368 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52368 - Mohr-Tranebjaerg syndrome - - Disease - - - - - - - - 64747 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64747 - X-linked Charcot-Marie-Tooth disease - - Clinical group - - - - - - 99014 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99014 - X-linked Charcot-Marie-Tooth disease type 5 - - Disease - - - - - - - - 101075 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101075 - X-linked Charcot-Marie-Tooth disease type 1 - - Disease - - - - - - - - 101076 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101076 - X-linked Charcot-Marie-Tooth disease type 2 - - Disease - - - - - - - - 101077 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101077 - X-linked Charcot-Marie-Tooth disease type 3 - - Disease - - - - - - - - 101078 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101078 - X-linked Charcot-Marie-Tooth disease type 4 - - Disease - - - - - - - - 352675 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352675 - X-linked Charcot-Marie-Tooth disease type 6 - - Disease - - - - - - - - - - 67045 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=67045 - X-linked intellectual disability with isolated growth hormone deficiency - - Clinical subtype - - - - - - - - 85277 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85277 - X-linked intellectual disability, Cantagrel type - - Malformation syndrome - - - - - - - - 85290 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85290 - X-linked intellectual disability, Wilson type - - Malformation syndrome - - - - - - - - 85292 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85292 - X-linked spinocerebellar ataxia type 4 - - Disease - - - - - - - - 85294 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85294 - X-linked epilepsy-learning disabilities-behavior disorders syndrome - - Disease - - - - - - - - 85332 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85332 - X-linked intellectual disability-retinitis pigmentosa syndrome - - Disease - - - - - - - - 85334 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85334 - X-linked neurodegenerative syndrome, Bertini type - - Disease - - - - - - - - 85336 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85336 - X-linked neurodegenerative syndrome, Hamel type - - Disease - - - - - - - - 85338 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85338 - X-linked intellectual disability-ataxia-apraxia syndrome - - Disease - - - - - - - - 94083 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94083 - Partington syndrome - - Malformation syndrome - - - - - - - - 98890 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98890 - Early-onset X-linked optic atrophy - - Disease - - - - - - - - 100973 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100973 - FRAXE intellectual disability - - Disease - - - - - - - - 163721 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163721 - Rolandic epilepsy-speech dyspraxia syndrome - - Disease - - - - - - - - 534 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=534 - Oculocerebrorenal syndrome of Lowe - - Malformation syndrome - - - - - - - - 580 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=580 - Mucopolysaccharidosis type 2 - - Disease - - - - - - 217085 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217085 - Mucopolysaccharidosis type 2, severe form - - Clinical subtype - - - - - - - - 217093 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217093 - Mucopolysaccharidosis type 2, attenuated form - - Clinical subtype - - - - - - - - - - 664 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=664 - Ornithine transcarbamylase deficiency - - Disease - - - - - - - - 565 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=565 - Menkes disease - - Disease - - - - - - - - 34587 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=34587 - Danon disease - - Disease - - - - - - - - 139396 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139396 - X-linked cerebral adrenoleukodystrophy - - Clinical subtype - - - - - - - - 356961 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=356961 - SLC35A2-CDG - - Disease - - - - - - - - 251383 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251383 - CK syndrome - - Malformation syndrome - - - - - - - - 275543 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275543 - L1 syndrome - - Malformation syndrome - - - - - - 2182 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2182 - Hydrocephalus with stenosis of the aqueduct of Sylvius - - Clinical subtype - - - - - - - - 2466 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2466 - MASA syndrome - - Clinical subtype - - - - - - - - 1497 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1497 - X-linked complicated corpus callosum dysgenesis - - Clinical subtype - - - - - - - - 306617 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306617 - X-linked complicated spastic paraplegia type 1 - - Clinical subtype - - - - - - - - - - 166108 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166108 - Birk-Barel syndrome - - Disease - - - - - - - - 50812 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50812 - Zellweger-like syndrome without peroxisomal anomalies - - Disease - - - - - - - - 137898 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137898 - Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome - - Disease - - - - - - - - 79318 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79318 - PMM2-CDG - - Disease - - - - - - - - 79321 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79321 - ALG3-CDG - - Disease - - - - - - - - 79323 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79323 - MPDU1-CDG - - Disease - - - - - - - - 79325 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79325 - ALG8-CDG - - Disease - - - - - - - - 79326 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79326 - ALG2-CDG - - Disease - - - - - - - - 79327 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79327 - ALG1-CDG - - Disease - - - - - - - - 79329 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79329 - MGAT2-CDG - - Disease - - - - - - - - 86309 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86309 - DPAGT1-CDG - - Disease - - - - - - - - 86812 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86812 - POMT1-related limb-girdle muscular dystrophy R11 - - Disease - - - - - - - - 95428 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95428 - COG8-CDG - - Disease - - - - - - - - 99843 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99843 - Leukocyte adhesion deficiency type II - - Clinical subtype - - - - - - - - 206559 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206559 - POMT2-related limb-girdle muscular dystrophy R14 - - Disease - - - - - - - - 238459 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238459 - SLC35A1-CDG - - Disease - - - - - - - - 244310 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=244310 - RFT1-CDG - - Disease - - - - - - - - 263487 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263487 - COG5-CDG - - Disease - - - - - - - - 263501 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263501 - COG4-CDG - - Disease - - - - - - - - 280071 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280071 - ALG11-CDG - - Disease - - - - - - - - 280333 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280333 - Alpha-dystroglycan-related limb-girdle muscular dystrophy R16 - - Disease - - - - - - - - 324737 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324737 - SRD5A3-CDG - - Disease - - - - - - - - 329178 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329178 - Congenital muscular dystrophy with intellectual disability and severe epilepsy - - Disease - - - - - - - - 352479 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352479 - ISPD-related limb-girdle muscular dystrophy R20 - - Disease - - - - - - - - 357058 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357058 - Autosomal recessive cutis laxa type 2A - - Disease - - - - - - 2834 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2834 - Wrinkly skin syndrome - - Clinical subtype - - - - - - - - 357074 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357074 - Autosomal recessive cutis laxa type 2, classic type - - Clinical subtype - - - - - - - - - - 363417 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363417 - Temtamy preaxial brachydactyly syndrome - - Malformation syndrome - - - - - - - - 370943 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370943 - Autism spectrum disorder-epilepsy-arthrogryposis syndrome - - Disease - - - - - - - - 370959 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370959 - Congenital muscular dystrophy with cerebellar involvement - - Disease - - - - - - - - 370968 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370968 - Congenital muscular dystrophy with intellectual disability - - Disease - - - - - - - - 397941 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397941 - MAN1B1-CDG - - Disease - - - - - - - - 209905 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209905 - Brain-lung-thyroid syndrome - - Disease - - - - - - - - 220295 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220295 - Xeroderma pigmentosum-Cockayne syndrome complex - - Disease - - - - - - - - 231556 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231556 - Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome - - Disease - - - - - - - - 263410 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263410 - Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome - - Disease - - - - - - - - 276183 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276183 - Spinocerebellar ataxia type 32 - - Disease - - - - - - - - 280384 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280384 - Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome - - Disease - - - - - - - - 280763 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280763 - Severe intellectual disability and progressive spastic paraplegia - - Disease - - - - - - - - 289266 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289266 - Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation - - Disease - - - - - - - - 289483 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289483 - Intellectual disability-alacrima-achalasia syndrome - - Disease - - - - - - - - 293939 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293939 - Distal Xq28 microduplication syndrome - - Malformation syndrome - - - - - - - - 293948 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293948 - 1p21.3 microdeletion syndrome - - Malformation syndrome - - - - - - - - 294023 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294023 - Neonatal inflammatory skin and bowel disease - - Disease - - - - - - - - 314647 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314647 - Non-progressive cerebellar ataxia with intellectual disability - - Disease - - - - - - - - 352333 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352333 - Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome - - Disease - - - - - - - - 356996 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=356996 - ANK3-related intellectual disability-sleep disturbance syndrome - - Disease - - - - - - - - 357225 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357225 - Primary non-essential cutis verticis gyrata - - Disease - - - - - - - - 363523 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363523 - Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome - - Disease - - - - - - - - 369847 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369847 - Intellectual disability-hyperkinetic movement-truncal ataxia syndrome - - Disease - - - - - - - - 370022 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370022 - Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome - - Disease - - - - - - - - 401777 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401777 - Optic atrophy-intellectual disability syndrome - - Disease - - - - - - - - 435638 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435638 - 3p25.3 microdeletion syndrome - - Malformation syndrome - - - - - - - - 444013 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444013 - Combined oxidative phosphorylation defect type 23 - - Disease - - - - - - - - 447760 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447760 - Autosomal recessive spastic paraplegia type 9B - - Disease - - - - - - - - 457351 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457351 - Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome - - Malformation syndrome - - - - - - - - 531151 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=531151 - 9q21.13 microdeletion syndrome - - Malformation syndrome - - - - - - - - 536467 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=536467 - B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome - - Clinical subtype - - - - - - - - 565624 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=565624 - Combined oxidative phosphorylation defect type 39 - - Disease - - - - - - - - 572798 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572798 - WARS2-related combined oxidative phosphorylation defect - - Disease - - - - - - - - 589618 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589618 - Dystonia 28 - - Disease - - - - - - - - 250977 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=250977 - AICA-ribosiduria - - Disease - - - - - - - - 79328 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79328 - ALG9-CDG - - Disease - - - - - - - - 284289 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284289 - Adult-onset autosomal recessive cerebellar ataxia - - Disease - - - - - - - - 67046 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=67046 - 3-methylglutaconic aciduria type 1 - - Disease - - - - - - - - 320380 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=320380 - Autosomal recessive spastic paraplegia type 54 - - Disease - - - - - - - - 98896 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98896 - Duchenne muscular dystrophy - - Disease - - - - - - - - 66634 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66634 - Dilated cardiomyopathy with ataxia - - Disease - - - - - - - - 79322 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79322 - DPM1-CDG - - Disease - - - - - - - - 209951 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209951 - Autosomal spastic paraplegia type 18 - - Disease - - - - - - - - 51188 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=51188 - Ethylmalonic encephalopathy - - Disease - - - - - - - - 263516 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263516 - Progressive myoclonic epilepsy type 3 - - Disease - - - - - - - - 258 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=258 - Laminin subunit alpha 2-related congenital muscular dystrophy - - Malformation syndrome - - - - - - - - 644 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=644 - NARP syndrome - - Disease - - - - - - - - 88637 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88637 - Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome - - Clinical subtype - - - - - - - - 33069 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33069 - Dravet syndrome - - Disease - - - - - - - - 98811 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98811 - Paroxysmal exertion-induced dyskinesia - - Disease - - - - - - - - 284271 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284271 - Autosomal recessive cerebellar ataxia-psychomotor delay syndrome - - Disease - - - - - - - - 352582 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352582 - Familial infantile myoclonic epilepsy - - Disease - - - - - - - - 100996 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100996 - Autosomal recessive spastic paraplegia type 15 - - Disease - - - - - - - - 324422 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324422 - ALG13-CDG - - Disease - - - - - - - - 101006 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101006 - Autosomal recessive spastic paraplegia type 26 - - Disease - - - - - - - - 401768 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401768 - Proximal myopathy with extrapyramidal signs - - Disease - - - - - - - - 101150 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101150 - Autosomal recessive dopa-responsive dystonia - - Disease - - - - - - - - 329284 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329284 - Beta-propeller protein-associated neurodegeneration - - Disease - - - - - - - - 101000 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101000 - Autosomal recessive spastic paraplegia type 20 - - Disease - - - - - - - - 320385 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=320385 - Hereditary sensory and autonomic neuropathy due to TECPR2 mutation - - Disease - - - - - - - - 308 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308 - Progressive myoclonic epilepsy type 1 - - Disease - - - - - - - - 300536 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300536 - DDOST-CDG - - Disease - - - - - - - - 137754 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137754 - Aminoacylase 1 deficiency - - Disease - - - - - - - - 238455 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238455 - Infantile dystonia-parkinsonism - - Disease - - - - - - - - 263494 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263494 - DPM3-CDG - - Disease - - - - - - - - 319199 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319199 - Autosomal recessive spastic paraplegia type 53 - - Disease - - - - - - - - 320391 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=320391 - Autosomal recessive spastic paraplegia type 46 - - Disease - - - - - - - - 95716 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95716 - Familial thyroid dyshormonogenesis - - Disease - - - - - - - - 88639 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88639 - Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency - - Disease - - - - - - - - 238722 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238722 - Familial congenital mirror movements - - Disease - - - - - - - - 352403 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352403 - Spectrin-associated autosomal recessive cerebellar ataxia - - Disease - - - - - - - - 33 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33 - Isovaleric acidemia - - Disease - - - - - - - - 79319 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79319 - MPI-CDG - - Disease - - - - - - - - 30 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=30 - Hereditary orotic aciduria - - Disease - - - - - - - - 159 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=159 - Carnitine-acylcarnitine translocase deficiency - - Disease - - - - - - - - 1194 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1194 - TMEM70-related mitochondrial encephalo-cardio-myopathy - - Disease - - - - - - - - 36387 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36387 - Genetic epilepsy with febrile seizure plus - - Disease - - - - - - - - 88619 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88619 - Familial acute necrotizing encephalopathy - - Disease - - - - - - - - 486815 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=486815 - Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome - - Disease - - - - - - - - 98773 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98773 - Spinocerebellar ataxia type 21 - - Disease - - - - - - - - 363432 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363432 - Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency - - Clinical subtype - - - - - - - - 94122 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94122 - Cerebellar ataxia, Cayman type - - Disease - - - - - - - - 79096 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79096 - Pyridoxamine-5-phosphate deficiency-developmental and epileptic encephalopathy - - Disease - - - - - - - - 352649 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352649 - Brain dopamine-serotonin vesicular transport disease - - Disease - - - - - - - - 251347 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251347 - Ataxia-telangiectasia-like disorder - - Disease - - - - - - - - 65 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65 - Leber congenital amaurosis - - Disease - - - - - - - - 73273 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73273 - Growth delay due to insulin-like growth factor I resistance - - Disease - - - - - - - - 397725 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397725 - COASY protein-associated neurodegeneration - - Disease - - - - - - - - 394 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=394 - Homocystinuria due to cystathionine beta-synthase deficiency - - Disease - - - - - - - - 79443 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79443 - Pseudohypoparathyroidism type 1A - - Disease - - - - - - - - 33364 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33364 - Trichothiodystrophy - - Disease - - - - - - - - 29 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=29 - Mevalonic aciduria - - Clinical subtype - - - - - - - - 100 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100 - Ataxia-telangiectasia - - Disease - - - - - - - - 98914 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98914 - Presynaptic congenital myasthenic syndromes - - Etiological subtype - - - - - - - - 330054 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=330054 - Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome - - Disease - - - - - - - - 99704 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99704 - Early-onset obesity-hyperphagia-severe developmental delay syndrome - - Disease - - - - - - - - 794 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=794 - Saethre-Chotzen syndrome - - Malformation syndrome - - - - - - - - 773 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=773 - Refsum disease - - Disease - - - - - - - - 3197 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3197 - Hereditary hyperekplexia - - Disease - - - - - - - - 3253 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3253 - Cleft lip/palate-ectodermal dysplasia syndrome - - Malformation syndrome - - - - - - - - 35099 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35099 - Non-syndromic bicoronal craniosynostosis - - Morphological anomaly - - - - - - - - 77293 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77293 - Chronic visceral acid sphingomyelinase deficiency - - Disease - - - - - - - - 3137 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3137 - Alpha-N-acetylgalactosaminidase deficiency - - Disease - - - - - - 79279 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79279 - Alpha-N-acetylgalactosaminidase deficiency type 1 - - Clinical subtype - - - - - - - - 79280 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79280 - Alpha-N-acetylgalactosaminidase deficiency type 2 - - Clinical subtype - - - - - - - - 79281 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79281 - Alpha-N-acetylgalactosaminidase deficiency type 3 - - Clinical subtype - - - - - - - - - - 79644 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79644 - Autosomal recessive hyperinsulinism due to Kir6.2 deficiency - - Disease - - - - - - - - 95496 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95496 - Pituitary stalk interruption syndrome - - Morphological anomaly - - - - - - - - 98808 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98808 - Autosomal dominant dopa-responsive dystonia - - Disease - - - - - - - - 99885 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99885 - Isolated permanent neonatal diabetes mellitus - - Disease - - - - - - - - 100991 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100991 - Autosomal dominant spastic paraplegia type 10 - - Disease - - - - - - - - 163681 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163681 - CNTNAP2-related developmental and epileptic encephalopathy - - Disease - - - - - - - - 163746 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163746 - Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease - - Disease - - - - - - - - 726 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=726 - Alpers-Huttenlocher syndrome - - Disease - - - - - - - - 419 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=419 - Hyperprolinemia type 1 - - Disease - - - - - - - - 65283 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65283 - Timothy syndrome - - Malformation syndrome - - - - - - 595098 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=595098 - Timothy syndrome type 1 - - Clinical subtype - - - - - - - - 595105 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=595105 - Timothy syndrome type 2 - - Clinical subtype - - - - - - - - 595109 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=595109 - Atypical Timothy syndrome - - Clinical subtype - - - - - - - - - - 177 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=177 - Rhizomelic chondrodysplasia punctata - - Disease - - - - - - 309803 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309803 - Rhizomelic chondrodysplasia punctata type 3 - - Etiological subtype - - - - - - - - 309789 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309789 - Rhizomelic chondrodysplasia punctata type 1 - - Etiological subtype - - - - - - - - 309796 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309796 - Rhizomelic chondrodysplasia punctata type 2 - - Etiological subtype - - - - - - - - 468717 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=468717 - Rhizomelic chondrodysplasia punctata type 5 - - Etiological subtype - - - - - - - - - - 77292 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77292 - Infantile neurovisceral acid sphingomyelinase deficiency - - Disease - - - - - - - - 254905 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254905 - Isolated cytochrome C oxidase deficiency - - Disease - - - - - - - - 477814 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477814 - Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome - - Malformation syndrome - - - - - - - - 407 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=407 - Glycine encephalopathy - - Disease - - - - - - 289857 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289857 - Neonatal glycine encephalopathy - - Clinical subtype - - - - - - - - 289860 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289860 - Infantile glycine encephalopathy - - Clinical subtype - - - - - - - - 289863 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289863 - Atypical glycine encephalopathy - - Clinical subtype - - - - - - - - - - 579 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=579 - Mucopolysaccharidosis type 1 - - Disease - - - - - - 93473 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93473 - Hurler syndrome - - Clinical subtype - - - - - - - - 93474 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93474 - Scheie syndrome - - Clinical subtype - - - - - - - - 93476 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93476 - Hurler-Scheie syndrome - - Clinical subtype - - - - - - - - - - 125 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=125 - Bloom syndrome - - Disease - - - - - - - - 137605 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137605 - Legius syndrome - - Malformation syndrome - - - - - - - - 255235 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=255235 - Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy - - Disease - - - - - - - - 79330 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79330 - MOGS-CDG - - Disease - - - - - - - - 652487 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=652487 - Developmental delay-overweight-facial dysmorphism-behavioral abnormalities syndrome - - Malformation syndrome - - - - - - - - 2500 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2500 - Acrogeria - - Malformation syndrome - - - - - - - - 381 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=381 - Griscelli syndrome - - Disease - - - - - - 79476 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79476 - Griscelli syndrome type 1 - - Clinical subtype - - - - - - - - 79477 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79477 - Griscelli syndrome type 2 - - Clinical subtype - - - - - - - - 79478 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79478 - Griscelli syndrome type 3 - - Clinical subtype - - - - - - - - - - 3006 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3006 - Pyridoxine-dependent-developmental and epileptic encephalopathy - - Disease - - - - - - - - 927 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=927 - Hyperammonemia due to N-acetylglutamate synthase deficiency - - Disease - - - - - - - - 3208 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3208 - Isolated succinate-CoQ reductase deficiency - - Disease - - - - - - - - 361 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=361 - Familial glucocorticoid deficiency - - Disease - - - - - - - - 2785 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2785 - Osteopetrosis with renal tubular acidosis - - Disease - - - - - - - - 1451 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1451 - CINCA syndrome - - Disease - - - - - - - - 910 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=910 - Xeroderma pigmentosum - - Disease - - - - - - - - 436151 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436151 - Intellectual disability-expressive aphasia-facial dysmorphism syndrome - - Malformation syndrome - - - - - - - - 324410 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324410 - X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome - - Disease - - - - - - - - 457260 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457260 - X-linked intellectual disability-hypotonia-movement disorder syndrome - - Disease - - - - - - - - 46 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=46 - Adenylosuccinate lyase deficiency - - Disease - - - - - - - - 370924 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370924 - STT3B-CDG - - Disease - - - - - - - - 443811 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443811 - PGM3-CDG - - Disease - - - - - - - - 445038 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=445038 - 3-methylglutaconic aciduria-neonatal cataract-neurologic involvement-congenital neutropenia syndrome - - Disease - - - - - - - - 477774 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477774 - Combined oxidative phosphorylation defect type 27 - - Disease - - - - - - - - 404481 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404481 - Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome - - Clinical group - - - - - - 284282 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284282 - Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency - - Disease - - - - - - - - 404493 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404493 - Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency - - Disease - - - - - - - - 404499 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404499 - Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency - - Disease - - - - - - - - - - 438114 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=438114 - RARS-related autosomal recessive hypomyelinating leukodystrophy - - Disease - - - - - - - - 438134 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=438134 - PCNA-related progressive neurodegenerative photosensitivity syndrome - - Disease - - - - - - - - 438178 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=438178 - Fatty acyl-CoA reductase 1 deficiency - - Disease - - - - - - - - 453510 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=453510 - Congenital insensitivity to pain with severe intellectual disability - - Disease - - - - - - - - 466926 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466926 - Seizures-scoliosis-macrocephaly syndrome - - Disease - - - - - - - - 466934 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466934 - VPS11-related autosomal recessive hypomyelinating leukodystrophy - - Disease - - - - - - - - 468620 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=468620 - Intellectual disability-epilepsy-extrapyramidal syndrome - - Disease - - - - - - - - 477673 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477673 - Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome - - Disease - - - - - - - - 564178 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=564178 - Primary hypomagnesemia-refractory seizures-intellectual disability syndrome - - Disease - - - - - - - - 589547 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589547 - GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder - - Disease - - - - - - - - 589824 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589824 - Childhood-onset Steinert myotonic dystrophy - - Clinical subtype - - - - - - - - 589827 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589827 - Juvenile-onset Steinert myotonic dystrophy - - Clinical subtype - - - - - - - - 592564 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=592564 - GNAO1-related developmental delay-seizures-movement disorder spectrum - - Disease - - - - - - - - 597874 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=597874 - MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome - - Disease - - - - - - - - 98907 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98907 - Neutral lipid storage disease with ichthyosis - - Disease - - - - - - - - 2971 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2971 - Peroxisomal acyl-CoA oxidase deficiency - - Disease - - - - - - - - 79324 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79324 - ALG12-CDG - - Disease - - - - - - - - 621 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=621 - Hereditary methemoglobinemia - - Disease - - - - - - - - 324262 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324262 - Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency - - Clinical subtype - - - - - - - - 79314 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79314 - L-2-hydroxyglutaric aciduria - - Disease - - - - - - - - 1934 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1934 - Early infantile developmental and epileptic encephalopathy - - Clinical syndrome - - - - - - - - 415 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=415 - Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome - - Disease - - - - - - - - 2382 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2382 - Lennox-Gastaut syndrome - - Disease - - - - - - - - 439218 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439218 - KCNQ2-related developmental and epileptic encephalopathy - - Disease - - - - - - - - 352447 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352447 - Progressive external ophthalmoplegia-myopathy-emaciation syndrome - - Disease - - - - - - - - 98763 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98763 - Spinocerebellar ataxia type 14 - - Disease - - - - - - - - 442835 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=442835 - Non-specific early-onset epileptic encephalopathy - - Disease - - - - - - - - 1942 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1942 - Epilepsy with myoclonic-atonic seizures - - Disease - - - - - - - - 466794 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466794 - Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome - - Disease - - - - - - - - 88628 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88628 - Posterior column ataxia-retinitis pigmentosa syndrome - - Disease - - - - - - - - 320411 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=320411 - Autosomal recessive spastic paraplegia type 56 - - Disease - - - - - - - - 459056 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=459056 - Autosomal recessive spastic paraplegia type 75 - - Disease - - - - - - - - 354 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=354 - GM1 gangliosidosis - - Disease - - - - - - 79255 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79255 - GM1 gangliosidosis type 1 - - Clinical subtype - - - - - - - - 79256 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79256 - GM1 gangliosidosis type 2 - - Clinical subtype - - - - - - - - 79257 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79257 - GM1 gangliosidosis type 3 - - Clinical subtype - - - - - - - - - - 2116 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2116 - Hartnup disease - - Disease - - - - - - - - 2573 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2573 - Moyamoya disease - - Disease - - - - - - - - 26 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=26 - Methylmalonic acidemia with homocystinuria - - Disease - - - - - - 79282 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79282 - Methylmalonic acidemia with homocystinuria, type cblC - - Clinical subtype - - - - - - - - 79283 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79283 - Methylmalonic acidemia with homocystinuria, type cblD - - Clinical subtype - - - - - - - - 79284 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79284 - Methylmalonic acidemia with homocystinuria type cblF - - Clinical subtype - - - - - - - - 369955 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369955 - Methylmalonic acidemia with homocystinuria, type cblJ - - Clinical subtype - - - - - - - - 369962 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369962 - Methylmalonic acidemia with homocystinuria, type cblX - - Clinical subtype - - - - - - - - - - 61 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=61 - Alpha-mannosidosis - - Disease - - - - - - 309282 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309282 - Alpha-mannosidosis, infantile form - - Clinical subtype - - - - - - - - 309288 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309288 - Alpha-mannosidosis, adult form - - Clinical subtype - - - - - - - - - - 1561 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1561 - Fatal infantile cytochrome C oxidase deficiency - - Disease - - - - - - - - 1460 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1460 - Isolated complex III deficiency - - Disease - - - - - - - - 168566 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168566 - Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 - - Disease - - - - - - - - 2269 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2269 - Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome - - Disease - - - - - - - - 480864 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480864 - Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome - - Disease - - - - - - - - 565788 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=565788 - Infantile inflammatory bowel disease with neurological involvement - - Disease - - - - - - - - 51 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=51 - Aicardi-Goutières syndrome - - Disease - - - - - - - - 1313 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1313 - Infantile choroidocerebral calcification syndrome - - Disease - - - - - - - - 1375 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1375 - Cataract-hypertrichosis-intellectual disability syndrome - - Malformation syndrome - - - - - - - - 1766 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1766 - Dysequilibrium syndrome - - Disease - - - - - - - - 2574 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2574 - Moynahan syndrome - - Malformation syndrome - - - - - - - - 2818 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2818 - Spastic paraplegia-glaucoma-intellectual disability syndrome - - Disease - - - - - - - - 2822 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2822 - Autosomal recessive spastic paraplegia type 11 - - Disease - - - - - - - - 2850 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2850 - Alopecia-intellectual disability syndrome - - Disease - - - - - - - - 2885 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2885 - Piebald trait-neurologic defects syndrome - - Malformation syndrome - - - - - - - - 3011 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3011 - Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome - - Disease - - - - - - - - 702 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=702 - Pelizaeus-Merzbacher disease - - Disease - - - - - - 280210 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280210 - Pelizaeus-Merzbacher disease, connatal form - - Clinical subtype - - - - - - - - 280219 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280219 - Pelizaeus-Merzbacher disease, classic form - - Clinical subtype - - - - - - - - 280224 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280224 - Pelizaeus-Merzbacher disease, transitional form - - Clinical subtype - - - - - - - - 280229 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280229 - Pelizaeus-Merzbacher disease in female carriers - - Clinical subtype - - - - - - - - 280234 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280234 - Null syndrome - - Clinical subtype - - - - - - - - - - 59 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=59 - Allan-Herndon-Dudley syndrome - - Disease - - - - - - - - 1175 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1175 - X-linked progressive cerebellar ataxia - - Disease - - - - - - - - 1867 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1867 - Hereditary bullous dystrophy, macular type - - Disease - - - - - - - - 2375 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2375 - Laryngeal abductor paralysis-intellectual disability syndrome - - Malformation syndrome - - - - - - - - 3077 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3077 - X-linked intellectual disability-psychosis-macroorchidism syndrome - - Malformation syndrome - - - - - - - - 765 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=765 - Pyruvate dehydrogenase deficiency - - Disease - - - - - - 2394 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2394 - Pyruvate dehydrogenase E3 deficiency - - Clinical subtype - - - - - - - - 79243 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79243 - Pyruvate dehydrogenase E1-alpha deficiency - - Clinical subtype - - - - - - - - 79244 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79244 - Pyruvate dehydrogenase E2 deficiency - - Clinical subtype - - - - - - - - 79246 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79246 - Pyruvate dehydrogenase phosphatase deficiency - - Clinical subtype - - - - - - - - 255138 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=255138 - Pyruvate dehydrogenase E1-beta deficiency - - Clinical subtype - - - - - - - - 255182 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=255182 - Pyruvate dehydrogenase E3-binding protein deficiency - - Clinical subtype - - - - - - - - - - 713 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=713 - Glycogen storage disease due to phosphoglycerate kinase 1 deficiency - - Disease - - - - - - - - 3057 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3057 - Monoamine oxidase A deficiency - - Disease - - - - - - - - 423479 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423479 - X-linked intellectual disability-limb spasticity-retinal dystrophy-arginine vasopressin deficiency - - Disease - - - - - - - - 485350 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=485350 - CLCN4-related X-linked intellectual disability syndrome - - Disease - - - - - - - - 157954 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157954 - ANE syndrome - - Disease - - - - - - - - 382 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=382 - Guanidinoacetate methyltransferase deficiency - - Disease - - - - - - - - 370079 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370079 - Proximal 16p11.2 microduplication syndrome - - Malformation syndrome - - - - - - - - 412069 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=412069 - AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome - - Malformation syndrome - - - - - - - - 447997 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447997 - Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome - - Disease - - - - - - - - 488613 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488613 - Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome - - Malformation syndrome - - - - - - - - 543470 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=543470 - Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome - - Disease - - - - - - - - 565899 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=565899 - POMGNT2-related limb-girdle muscular dystrophy R24 - - Disease - - - - - - - - 583595 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=583595 - Serine biosynthesis pathway deficiency, infantile/juvenile form - - Disease - - - - - - 79351 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79351 - 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form - - Etiological subtype - - - - - - - - 79350 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79350 - 3-phosphoserine phosphatase deficiency, infantile/juvenile form - - Etiological subtype - - - - - - - - 284417 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284417 - Phosphoserine aminotransferase deficiency, infantile/juvenile form - - Etiological subtype - - - - - - - - - - 589515 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589515 - PUM1-associated developmental disability-ataxia-seizure syndrome - - Disease - - - - - - - - 23 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=23 - Argininosuccinic aciduria - - Disease - - - - - - - - 2268 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2268 - ICF syndrome - - Malformation syndrome - - - - - - - - 642 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642 - Hereditary sensory and autonomic neuropathy type 4 - - Disease - - - - - - - - 760 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=760 - Purine nucleoside phosphorylase deficiency - - Disease - - - - - - - - 2598 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2598 - Mitochondrial myopathy and sideroblastic anemia - - Disease - - - - - - - - 1170 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1170 - Autosomal recessive cerebelloparenchymal disorder type 3 - - Disease - - - - - - - - 643 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=643 - Giant axonal neuropathy - - Disease - - - - - - - - 1933 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1933 - Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria - - Disease - - - - - - - - 134 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=134 - Beta-ketothiolase deficiency - - Disease - - - - - - - - 412057 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=412057 - Autosomal recessive cerebellar ataxia due to STUB1 deficiency - - Disease - - - - - - - - 2505 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2505 - Multiple benign circumferential skin creases on limbs - - Disease - - - - - - - - 1980 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1980 - Bilateral striopallidodentate calcinosis - - Disease - - - - - - - - 2526 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2526 - Microcephaly-lymphedema-chorioretinopathy syndrome - - Malformation syndrome - - - - - - - - 1946 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1946 - Amelocerebrohypohidrotic syndrome - - Malformation syndrome - - - - - - - - 559 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=559 - Marinesco-Sjögren syndrome - - Disease - - - - - - - - 869 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=869 - Triple A syndrome - - Disease - - - - - - - - 64 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64 - Alström syndrome - - Disease - - - - - - - - 124 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=124 - Diamond-Blackfan anemia - - Disease - - - - - - - - 778 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=778 - Rett syndrome - - Disease - - - - - - - - 1775 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1775 - Dyskeratosis congenita - - Disease - - - - - - - - 3322 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3322 - Hoyeraal-Hreidarsson syndrome - - Disease - - - - - - - - 391417 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391417 - HSD10 disease - - Disease - - - - - - 85295 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85295 - HSD10 disease, atypical type - - Clinical subtype - - - - - - - - 391428 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391428 - HSD10 disease, infantile type - - Clinical subtype - - - - - - - - 391457 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391457 - HSD10 disease, neonatal type - - Clinical subtype - - - - - - - - - - 397933 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397933 - Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome - - Disease - - - - - - - - 456328 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=456328 - X-linked myotubular myopathy-abnormal genitalia syndrome - - Disease - - - - - - - - 370933 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370933 - GM3 synthase deficiency - - Disease - - - - - - - - 404454 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404454 - Alacrimia-choreoathetosis-liver dysfunction syndrome - - Disease - - - - - - - - 453521 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=453521 - Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency - - Disease - - - - - - - - 453533 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=453533 - Polyendocrine-polyneuropathy syndrome - - Disease - - - - - - - - 544254 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=544254 - SYNGAP1-related developmental and epileptic encephalopathy - - Disease - - - - - - - - 561854 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=561854 - FOXG1 syndrome - - Disease - - - - - - 598164 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=598164 - FOXG1 syndrome due to intragenic alteration - - Clinical subtype - - - - - - - - 261144 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261144 - FOXG1 syndrome due to 14q12 microdeletion - - Clinical subtype - - - - - - - - - - 589821 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589821 - Congenital-onset Steinert myotonic dystrophy - - Clinical subtype - - - - - - - - - - - - 528084 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=528084 - Non-specific syndromic intellectual disability - - Disease - - - - - - - - - - 209908 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209908 - Isolated childhood apraxia of speech - - Disease - - - - - - - - 209978 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209978 - Alternating hemiplegia - - Clinical group - - - - - - 2131 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2131 - Alternating hemiplegia of childhood - - Disease - - - - - - - - 209973 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209973 - Benign nocturnal alternating hemiplegia of childhood - - Disease - - - - - - - - - - 210141 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210141 - Inherited congenital spastic tetraplegia - - Disease - - - - - - - - 434786 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=434786 - Rare genetic autonomic nervous system disorder - - Category - - - - - - 661 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=661 - Congenital central hypoventilation syndrome - - Disease - - - - - - - - 99803 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99803 - Haddad syndrome - - Malformation syndrome - - - - - - - - 199282 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199282 - Harlequin syndrome - - Disease - - - - - - - - 581271 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=581271 - Cramp-fasciculation syndrome - - Disease - - - - - - - - - - 481665 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=481665 - USP18 deficiency - - Disease - - - - - - - - 521232 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521232 - Genetic primary orthostatic disorder - - Category - - - - - - 448426 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=448426 - Genetic primary orthostatic hypotension - - Category - - - - - - 1764 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1764 - Familial dysautonomia - - Disease - - - - - - - - 2828 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2828 - Young-onset Parkinson disease - - Disease - - - - - - - - 2400 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2400 - Peripheral motor neuropathy-dysautonomia syndrome - - Disease - - - - - - - - 230 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=230 - Dopamine beta-hydroxylase deficiency - - Disease - - - - - - - - 411602 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411602 - Hereditary late-onset Parkinson disease - - Disease - - - - - - - - - - 443236 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443236 - Postural orthostatic tachycardia syndrome due to NET deficiency - - Disease - - - - - - - - - - 603699 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=603699 - Recessive KLHL7-related disorder - - Clinical group - - - - - - 603684 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=603684 - KLHL7-related Bohring-Opitz-like and Crisponi/Cold-induced sweating-like overlap syndrome - - Malformation syndrome - - - - - - - - 603689 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=603689 - KLHL7-related Bohring-Opitz-like syndrome - - Malformation syndrome - - - - - - - - 603694 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=603694 - KLHL7-related Crisponi/cold-induced sweating-like syndrome - - Disease - - - - - - - - - - - - 77830 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77830 - Rare genetic odontologic disease - - Category - - - - - - 99792 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99792 - Dentin dysplasia-sclerotic bones syndrome - - Disease - - - - - - - - 167762 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=167762 - Rare disease with dentinogenesis imperfecta - - Category - - - - - - 2771 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2771 - Bruck syndrome - - Malformation syndrome - - - - - - - - 287 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=287 - Classical Ehlers-Danlos syndrome - - Disease - - - - - - - - 216812 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216812 - Osteogenesis imperfecta type 3 - - Clinical subtype - - - - - - - - 216820 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216820 - Osteogenesis imperfecta type 4 - - Clinical subtype - - - - - - - - 230839 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=230839 - Classical-like Ehlers-Danlos syndrome type 1 - - Disease - - - - - - - - - - 180766 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180766 - Malformative syndrome with dentinogenesis imperfecta - - Category - - - - - - 1830 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1830 - Schimke immuno-osseous dysplasia - - Disease - - - - - - - - 71267 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71267 - Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome - - Malformation syndrome - - - - - - - - 166272 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166272 - Odontochondrodysplasia - - Malformation syndrome - - - - - - - - 166277 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166277 - Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia - - Malformation syndrome - - - - - - - - - - 420755 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420755 - Rare genetic odontal or periodontal disorder - - Category - - - - - - 314555 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314555 - Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome - - Malformation syndrome - - - - - - - - 1077 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1077 - Dental ankylosis - - Malformation syndrome - - - - - - - - 2024 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2024 - Hereditary gingival fibromatosis - - Malformation syndrome - - - - - - - - 2287 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2287 - Fused mandibular incisors - - Morphological anomaly - - - - - - - - 88661 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88661 - Amelogenesis imperfecta - - Disease - - - - - - 100031 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100031 - Hypoplastic amelogenesis imperfecta - - Clinical subtype - - - - - - - - 100032 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100032 - Hypocalcified amelogenesis imperfecta - - Clinical subtype - - - - - - - - 100033 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100033 - Hypomaturation amelogenesis imperfecta - - Clinical subtype - - - - - - - - 100034 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100034 - Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism - - Clinical subtype - - - - - - - - - - 99797 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99797 - Anodontia - - Morphological anomaly - - - - - - - - 99798 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99798 - Oligodontia - - Morphological anomaly - - - - - - - - 167759 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=167759 - Hereditary dentin defect - - Category - - - - - - 1653 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1653 - Dentin dysplasia - - Disease - - - - - - 99789 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99789 - Dentin dysplasia type I - - Clinical subtype - - - - - - - - 99791 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99791 - Dentin dysplasia type II - - Clinical subtype - - - - - - - - 314721 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314721 - Atypical dentin dysplasia due to SMOC2 deficiency - - Clinical subtype - - - - - - - - - - 49042 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=49042 - Dentinogenesis imperfecta - - Disease - - - - - - 166260 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166260 - Dentinogenesis imperfecta type 2 - - Clinical subtype - - - - - - - - 166265 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166265 - Dentinogenesis imperfecta type 3 - - Clinical subtype - - - - - - - - - - - - 412206 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=412206 - Primary failure of tooth eruption - - Disease - - - - - - - - 444072 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444072 - Cerebellar-facial-dental syndrome - - Malformation syndrome - - - - - - - - - - 557003 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=557003 - Oculoskeletodental syndrome - - Disease - - - - - - - - 562559 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=562559 - Anterior maxillary protrusion-strabismus-intellectual disability syndrome - - Malformation syndrome - - - - - - - - 476096 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=476096 - Erythrokeratodermia-cardiomyopathy syndrome - - Disease - - - - - - - - 576278 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=576278 - SATB2-associated syndrome - - Malformation syndrome - - - - - - 251028 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251028 - SATB2-associated syndrome due to a chromosomal rearrangement - - Etiological subtype - - - - - - - - 576283 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=576283 - SATB2-associated syndrome due to a pathogenic variant - - Etiological subtype - - - - - - - - - - 447961 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447961 - Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome - - Disease - - - - - - - - - - 91378 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91378 - Hereditary angioedema - - Clinical group - - - - - - 528623 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=528623 - Hereditary angioedema with C1Inh deficiency - - Disease - - - - - - 100050 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100050 - Hereditary angioedema type 1 - - Etiological subtype - - - - - - - - 100051 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100051 - Hereditary angioedema type 2 - - Etiological subtype - - - - - - - - - - 528647 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=528647 - Hereditary angioedema with normal C1Inh - - Disease - - - - - - 100054 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100054 - F12-related hereditary angioedema with normal C1Inh - - Clinical subtype - - - - - - - - 537072 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=537072 - PLG-related hereditary angioedema with normal C1Inh - - Clinical subtype - - - - - - - - 599418 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=599418 - Hereditary angioedema with normal C1Inh not related to F12 or PLG variant - - Clinical subtype - - - - - - - - - - - - 466084 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466084 - Genetic otorhinolaryngologic disease - - Category - - - - - - 96210 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96210 - Rare genetic deafness - - Category - - - - - - 87884 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=87884 - Non-syndromic genetic deafness - - Disease - - - - - - 90636 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90636 - Rare autosomal recessive non-syndromic sensorineural deafness type DFNB - - Etiological subtype - - - - - - - - 90641 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90641 - Rare mitochondrial non-syndromic sensorineural deafness - - Etiological subtype - - - - - - - - 90625 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90625 - Rare X-linked non-syndromic sensorineural deafness type DFN - - Etiological subtype - - - - - - - - 90635 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90635 - Rare autosomal dominant non-syndromic sensorineural deafness type DFNA - - Etiological subtype - - - - - - - - - - 90642 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90642 - Syndromic genetic deafness - - Category - - - - - - 529574 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=529574 - Duane retraction syndrome with congenital deafness - - Malformation syndrome - - - - - - - - 508476 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508476 - Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome - - Malformation syndrome - - - - - - - - 521438 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521438 - Congenital vertebral-cardiac-renal anomalies syndrome - - Malformation syndrome - - - - - - - - 521445 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521445 - Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome - - Malformation syndrome - - - - - - - - 456298 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=456298 - 1p35.2 microdeletion syndrome - - Malformation syndrome - - - - - - - - 168569 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168569 - H syndrome - - Malformation syndrome - - - - - - - - 171848 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171848 - Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome - - Disease - - - - - - - - 171851 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171851 - MEDNIK syndrome - - Disease - - - - - - - - 199343 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199343 - EAST syndrome - - Disease - - - - - - - - 220295 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220295 - Xeroderma pigmentosum-Cockayne syndrome complex - - Disease - - - - - - - - 228012 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228012 - Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome - - Disease - - - - - - - - 280406 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280406 - Familial steroid-resistant nephrotic syndrome with sensorineural deafness - - Disease - - - - - - - - 289553 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289553 - Dysmorphism-conductive hearing loss-heart defect syndrome - - Malformation syndrome - - - - - - - - 293958 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293958 - Hypertelorism-preauricular sinus-punctual pits-deafness syndrome - - Malformation syndrome - - - - - - - - 293967 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293967 - Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome - - Malformation syndrome - - - - - - - - 300284 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300284 - Connective tissue disorder due to lysyl hydroxylase-3 deficiency - - Disease - - - - - - - - 300333 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300333 - Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome - - Disease - - - - - - - - 314404 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314404 - Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome - - Disease - - - - - - - - 314597 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314597 - Chudley-McCullough syndrome - - Malformation syndrome - - - - - - - - 324321 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324321 - Sinoatrial node dysfunction and deafness - - Disease - - - - - - - - 329336 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329336 - Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy - - Disease - - - - - - - - 330029 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=330029 - Hypotrichosis-deafness syndrome - - Disease - - - - - - - - 330054 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=330054 - Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome - - Disease - - - - - - - - 352328 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352328 - MEGDEL syndrome - - Disease - - - - - - - - 363396 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363396 - High myopia-sensorineural deafness syndrome - - Disease - - - - - - - - 363649 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363649 - Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome - - Disease - - - - - - - - 369939 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369939 - Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome - - Malformation syndrome - - - - - - - - 371212 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=371212 - Congenital disorder of glycosylation with deafness as a major feature - - Category - - - - - - 3474 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3474 - CHIME syndrome - - Malformation syndrome - - - - - - - - 244310 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=244310 - RFT1-CDG - - Disease - - - - - - - - 363417 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363417 - Temtamy preaxial brachydactyly syndrome - - Malformation syndrome - - - - - - - - - - 397744 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397744 - Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome - - Disease - - - - - - - - 402041 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=402041 - Autosomal recessive distal renal tubular acidosis - - Clinical subtype - - - - - - - - 411590 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411590 - Wolfram-like syndrome - - Disease - - - - - - - - 436174 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436174 - Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome - - Disease - - - - - - - - 438134 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=438134 - PCNA-related progressive neurodegenerative photosensitivity syndrome - - Disease - - - - - - - - 440354 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=440354 - Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome - - Malformation syndrome - - - - - - - - 443098 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443098 - Hyperostosis cranialis interna - - Disease - - - - - - - - 443995 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443995 - Mandibulofacial dysostosis with alopecia - - Malformation syndrome - - - - - - - - 445062 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=445062 - Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome - - Disease - - - - - - - - 448251 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=448251 - Progressive autosomal recessive ataxia-deafness syndrome - - Disease - - - - - - - - 480 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480 - Kearns-Sayre syndrome - - Disease - - - - - - - - 550 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=550 - MELAS - - Disease - - - - - - - - 138 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=138 - CHARGE syndrome - - Malformation syndrome - - - - - - - - 567 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=567 - 22q11.2 deletion syndrome - - Malformation syndrome - - - - - - - - 637 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=637 - Full NF2-related schwannomatosis - - Disease - - - - - - - - 649 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=649 - Norrie disease - - Malformation syndrome - - - - - - - - 857 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=857 - Townes-Brocks syndrome - - Malformation syndrome - - - - - - - - 107 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=107 - BOR syndrome - - Malformation syndrome - - - - - - - - 861 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=861 - Treacher-Collins syndrome - - Malformation syndrome - - - - - - - - 998 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=998 - Albinism-deafness syndrome - - Malformation syndrome - - - - - - - - 999 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=999 - Ermine phenotype - - Malformation syndrome - - - - - - - - 1000 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1000 - Ocular albinism with late-onset sensorineural deafness - - Disease - - - - - - - - 3085 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3085 - Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome - - Malformation syndrome - - - - - - - - 477 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477 - KID syndrome - - Disease - - - - - - - - 705 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=705 - Pendred syndrome - - Malformation syndrome - - - - - - - - 63 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=63 - Alport syndrome - - Disease - - - - - - 88917 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88917 - X-linked Alport syndrome - - Clinical subtype - - - - - - - - 88918 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88918 - Autosomal dominant Alport syndrome - - Clinical subtype - - - - - - - - 88919 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88919 - Autosomal recessive Alport syndrome - - Clinical subtype - - - - - - - - 1018 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1018 - X-linked Alport syndrome-diffuse leiomyomatosis - - Clinical subtype - - - - - - - - 653722 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=653722 - Digenic Alport syndrome - - Clinical subtype - - - - - - - - - - 191 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=191 - Cockayne syndrome - - Disease - - - - - - 1466 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1466 - COFS syndrome - - Clinical subtype - - - - - - - - 90321 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90321 - Cockayne syndrome type 1 - - Clinical subtype - - - - - - - - 90322 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90322 - Cockayne syndrome type 2 - - Clinical subtype - - - - - - - - 90324 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90324 - Cockayne syndrome type 3 - - Clinical subtype - - - - - - - - - - 886 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=886 - Usher syndrome - - Disease - - - - - - 231183 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231183 - Usher syndrome type 3 - - Clinical subtype - - - - - - - - 231169 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231169 - Usher syndrome type 1 - - Clinical subtype - - - - - - - - 231178 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231178 - Usher syndrome type 2 - - Clinical subtype - - - - - - - - - - 3440 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3440 - Waardenburg syndrome - - Disease - - - - - - 894 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=894 - Waardenburg syndrome type 1 - - Clinical subtype - - - - - - - - 895 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=895 - Waardenburg syndrome type 2 - - Clinical subtype - - - - - - - - 896 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=896 - Waardenburg syndrome type 3 - - Clinical subtype - - - - - - - - - - 3463 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3463 - Wolfram syndrome - - Disease - - - - - - - - 828 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=828 - Stickler syndrome - - Disease - - - - - - 90653 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90653 - Stickler syndrome type 1 - - Clinical subtype - - - - - - - - 90654 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90654 - Stickler syndrome type 2 - - Clinical subtype - - - - - - - - 250984 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=250984 - Autosomal recessive Stickler syndrome - - Clinical subtype - - - - - - - - - - 897 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=897 - Waardenburg-Shah syndrome - - Disease - - - - - - - - 500 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500 - Noonan syndrome with multiple lentigines - - Malformation syndrome - - - - - - - - 2052 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2052 - Fraser syndrome - - Malformation syndrome - - - - - - - - 2597 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2597 - Mitochondrial myopathy-lactic acidosis-deafness syndrome - - Disease - - - - - - - - 64 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64 - Alström syndrome - - Disease - - - - - - - - 1144 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1144 - Arthrogryposis-like hand anomaly-sensorineural deafness syndrome - - Malformation syndrome - - - - - - - - 1187 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1187 - Lethal ataxia with deafness and optic atrophy - - Disease - - - - - - - - 1188 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1188 - Ataxia-deafness-intellectual disability syndrome - - Malformation syndrome - - - - - - - - 1200 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1200 - Burn-McKeown syndrome - - Malformation syndrome - - - - - - - - 1248 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1248 - Maxillonasal dysplasia - - Malformation syndrome - - - - - - - - 1368 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1368 - Cataract-ataxia-deafness syndrome - - Disease - - - - - - - - 1399 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1399 - Richards-Rundle syndrome - - Malformation syndrome - - - - - - - - 1435 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1435 - Xq21 microdeletion syndrome - - Malformation syndrome - - - - - - - - 1490 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1490 - Corneal dystrophy-perceptive deafness syndrome - - Malformation syndrome - - - - - - - - 1529 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1529 - Craniofacial-deafness-hand syndrome - - Malformation syndrome - - - - - - - - 1883 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1883 - Ectodermal dysplasia-sensorineural deafness syndrome - - Malformation syndrome - - - - - - - - 2003 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2003 - Cleft lip/palate-deafness-sacral lipoma syndrome - - Malformation syndrome - - - - - - - - 2027 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2027 - Gingival fibromatosis-progressive deafness syndrome - - Malformation syndrome - - - - - - - - 2155 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2155 - Hirschsprung disease-deafness-polydactyly syndrome - - Malformation syndrome - - - - - - - - 2202 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2202 - Palmoplantar keratoderma-deafness syndrome - - Disease - - - - - - - - 1051 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1051 - Ramos-Arroyo syndrome - - Malformation syndrome - - - - - - - - 2237 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2237 - Hypoparathyroidism-sensorineural deafness-renal disease syndrome - - Malformation syndrome - - - - - - - - 494 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=494 - Keratoderma hereditarium mutilans - - Disease - - - - - - - - 2405 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2405 - Thickened earlobes-conductive deafness syndrome - - Malformation syndrome - - - - - - - - 2408 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2408 - Lowe-Kohn-Cohen syndrome - - Malformation syndrome - - - - - - - - 2502 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2502 - Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome - - Malformation syndrome - - - - - - - - 3216 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3216 - Conductive deafness-malformed external ear syndrome - - Malformation syndrome - - - - - - - - 544503 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=544503 - RNF13-related severe early-onset epileptic encephalopathy - - Disease - - - - - - - - 397623 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397623 - Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome - - Malformation syndrome - - - - - - - - 90652 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90652 - Otopalatodigital syndrome type 2 - - Malformation syndrome - - - - - - - - 557003 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=557003 - Oculoskeletodental syndrome - - Disease - - - - - - - - 589856 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589856 - Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome - - Malformation syndrome - - - - - - - - 589442 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589442 - Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome - - Malformation syndrome - - - - - - - - 500144 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500144 - Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome - - Malformation syndrome - - - - - - - - 631248 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=631248 - Mitchell Syndrome - - Disease - - - - - - - - 457351 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457351 - Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome - - Malformation syndrome - - - - - - - - 2074 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2074 - Gemignani syndrome - - Malformation syndrome - - - - - - - - 457223 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457223 - Syndromic sensorineural deafness due to combined oxidative phosphorylation defect - - Disease - - - - - - - - 2663 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2663 - Nathalie syndrome - - Malformation syndrome - - - - - - - - 231720 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231720 - Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome - - Malformation syndrome - - - - - - - - 182050 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=182050 - MYH9-related syndromic thrombocytopenia - - Disease - - - - - - - - 2533 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2533 - Microcephaly-deafness-intellectual disability syndrome - - Malformation syndrome - - - - - - - - 2589 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2589 - Myoclonus-cerebellar ataxia-deafness syndrome - - Malformation syndrome - - - - - - - - 2608 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2608 - N syndrome - - Malformation syndrome - - - - - - - - 2668 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2668 - Nephropathy-deafness-hyperparathyroidism syndrome - - Malformation syndrome - - - - - - - - 2669 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2669 - Nephrosis-deafness-urinary tract-digital malformations syndrome - - Malformation syndrome - - - - - - - - 2690 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2690 - Neutropenia-monocytopenia-deafness syndrome - - Disease - - - - - - - - 2698 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2698 - Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome - - Disease - - - - - - - - 2732 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2732 - Olivopontocerebellar atrophy-deafness syndrome - - Malformation syndrome - - - - - - - - 2750 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2750 - Orofaciodigital syndrome type 1 - - Malformation syndrome - - - - - - - - 2751 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2751 - Orofaciodigital syndrome type 2 - - Malformation syndrome - - - - - - - - 2753 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2753 - Orofaciodigital syndrome type 4 - - Malformation syndrome - - - - - - - - 2754 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2754 - Orofaciodigital syndrome type 6 - - Malformation syndrome - - - - - - - - 2815 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2815 - Spastic paraparesis-deafness syndrome - - Malformation syndrome - - - - - - - - 2820 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2820 - Spastic paraplegia-nephritis-deafness syndrome - - Clinical syndrome - - - - - - - - 2855 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2855 - Perrault syndrome - - Disease - - - - - - 642945 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642945 - Perrault syndrome type 1 - - Clinical subtype - - - - - - - - 642976 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642976 - Perrault syndrome type 2 - - Clinical subtype - - - - - - - - - - 2866 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2866 - Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome - - Malformation syndrome - - - - - - - - 3214 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3214 - Deaf blind hypopigmentation syndrome, Yemenite type - - Malformation syndrome - - - - - - - - 3217 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3217 - Deafness-small bowel diverticulosis-neuropathy syndrome - - Disease - - - - - - - - 3218 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3218 - Deafness-epiphyseal dysplasia-short stature syndrome - - Malformation syndrome - - - - - - - - 3219 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3219 - Fountain syndrome - - Malformation syndrome - - - - - - - - 3220 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3220 - Deafness-enamel hypoplasia-nail defects syndrome - - Malformation syndrome - - - - - - - - 3224 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3224 - Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome - - Malformation syndrome - - - - - - - - 3225 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3225 - Hearing loss-familial salivary gland insensitivity to aldosterone syndrome - - Malformation syndrome - - - - - - - - 3230 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3230 - Deafness-oligodontia syndrome - - Malformation syndrome - - - - - - - - 3231 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3231 - Deafness-onychodystrophy syndrome - - Clinical group - - - - - - 79499 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79499 - Autosomal dominant deafness-onychodystrophy syndrome - - Malformation syndrome - - - - - - - - 79500 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79500 - DOORS syndrome - - Malformation syndrome - - - - - - - - - - 3232 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3232 - Deafness-ear malformation-facial palsy syndrome - - Malformation syndrome - - - - - - - - 3233 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3233 - Cochleosaccular degeneration-cataract syndrome - - Malformation syndrome - - - - - - - - 3235 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3235 - Progressive deafness with stapes fixation - - Malformation syndrome - - - - - - - - 3237 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3237 - Multiple synostoses syndrome - - Malformation syndrome - - - - - - - - 3238 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3238 - Cardiospondylocarpofacial syndrome - - Malformation syndrome - - - - - - - - 3239 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3239 - Deafness-vitiligo-achalasia syndrome - - Malformation syndrome - - - - - - - - 3241 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3241 - Deafness-craniofacial syndrome - - Malformation syndrome - - - - - - - - 1192 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1192 - Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome - - Malformation syndrome - - - - - - - - 1383 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1383 - Cataract-deafness-hypogonadism syndrome - - Malformation syndrome - - - - - - - - 1123 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1123 - Caudal appendage-deafness syndrome - - Malformation syndrome - - - - - - - - 90650 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90650 - Otopalatodigital syndrome type 1 - - Malformation syndrome - - - - - - - - 1171 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1171 - Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome - - Disease - - - - - - - - 3240 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3240 - Early-onset progressive leukoencephalopathy-central nervous system calcification-deafness-visual impairment syndrome - - Disease - - - - - - - - 42665 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=42665 - Tietz syndrome - - Malformation syndrome - - - - - - - - 49827 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=49827 - Thiamine-responsive megaloblastic anemia syndrome - - Disease - - - - - - - - 50811 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50811 - Lipodystrophy-intellectual disability-deafness syndrome - - Disease - - - - - - - - 50815 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50815 - Branchiogenic deafness syndrome - - Malformation syndrome - - - - - - - - 52368 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52368 - Mohr-Tranebjaerg syndrome - - Disease - - - - - - - - 52429 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52429 - Branchiootic syndrome - - Malformation syndrome - - - - - - - - 64747 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64747 - X-linked Charcot-Marie-Tooth disease - - Clinical group - - - - - - 99014 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99014 - X-linked Charcot-Marie-Tooth disease type 5 - - Disease - - - - - - - - 101075 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101075 - X-linked Charcot-Marie-Tooth disease type 1 - - Disease - - - - - - - - 101076 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101076 - X-linked Charcot-Marie-Tooth disease type 2 - - Disease - - - - - - - - 101077 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101077 - X-linked Charcot-Marie-Tooth disease type 3 - - Disease - - - - - - - - 101078 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101078 - X-linked Charcot-Marie-Tooth disease type 4 - - Disease - - - - - - - - 352675 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352675 - X-linked Charcot-Marie-Tooth disease type 6 - - Disease - - - - - - - - - - 66633 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66633 - Sensorineural hearing loss-early graying-essential tremor syndrome - - Disease - - - - - - - - 69737 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69737 - Bosley-Salih-Alorainy syndrome - - Malformation syndrome - - - - - - - - 69739 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69739 - Athabaskan brainstem dysgenesis syndrome - - Disease - - - - - - - - 71267 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71267 - Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome - - Malformation syndrome - - - - - - - - 71271 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71271 - Split hand-split foot-deafness syndrome - - Malformation syndrome - - - - - - - - 79107 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79107 - Developmental malformations-deafness-dystonia syndrome - - Malformation syndrome - - - - - - - - 85321 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85321 - Deafness-intellectual disability syndrome, Martin-Probst type - - Malformation syndrome - - - - - - - - 89938 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=89938 - Bartter syndrome type 4 - - Clinical subtype - - - - - - - - 90024 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90024 - Deafness with labyrinthine aplasia, microtia, and microdontia - - Malformation syndrome - - - - - - - - 90103 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90103 - Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome - - Malformation syndrome - - - - - - - - 90646 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90646 - Deafness-hypogonadism syndrome - - Malformation syndrome - - - - - - - - 90647 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90647 - Jervell and Lange-Nielsen syndrome - - Disease - - - - - - - - 90658 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90658 - Charcot-Marie-Tooth disease type 1E - - Disease - - - - - - - - 94064 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94064 - Deafness-infertility syndrome - - Malformation syndrome - - - - - - - - 97229 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97229 - Riboflavin transporter deficiency - - Malformation syndrome - - - - - - 572543 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572543 - RFVT2-related riboflavin transporter deficiency - - Clinical subtype - - - - - - - - 572550 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572550 - RFVT3-related riboflavin transporter deficiency - - Clinical subtype - - - - - - - - - - 139512 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139512 - Neuropathy with hearing impairment - - Disease - - - - - - - - 140917 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140917 - Stapes ankylosis with broad thumbs and toes - - Malformation syndrome - - - - - - - - 140963 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140963 - Bilateral microtia-deafness-cleft palate syndrome - - Malformation syndrome - - - - - - - - 2838 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2838 - Renal caliceal diverticuli-deafness syndrome - - Malformation syndrome - - - - - - - - 163668 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163668 - Spondyloepiphyseal dysplasia, MacDermot type - - Malformation syndrome - - - - - - - - 163746 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163746 - Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease - - Disease - - - - - - - - 166100 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166100 - Autosomal dominant otospondylomegaepiphyseal dysplasia - - Malformation syndrome - - - - - - - - 500188 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500188 - X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome - - Malformation syndrome - - - - - - - - 447954 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447954 - Combined oxidative phosphorylation defect type 25 - - Disease - - - - - - - - 456312 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=456312 - Infantile multisystem neurologic-endocrine-pancreatic disease - - Disease - - - - - - - - 456318 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=456318 - Hereditary sensory neuropathy-deafness-dementia syndrome - - Disease - - - - - - - - 494439 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=494439 - Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome - - Malformation syndrome - - - - - - - - 494444 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=494444 - DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome - - Disease - - - - - - - - 488232 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488232 - Split-foot malformation-mesoaxial polydactyly syndrome - - Malformation syndrome - - - - - - - - 542585 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=542585 - Auditory neuropathy-optic atrophy syndrome - - Disease - - - - - - - - 543470 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=543470 - Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome - - Disease - - - - - - - - 611201 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=611201 - Oculogastrointestinal-neurodevelopmental syndrome - - Malformation syndrome - - - - - - - - 611207 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=611207 - Spondyloepiphyseal dysplasia-sensorineural hearing loss-intellectual disability-Leber congenital amaurosis syndrome - - Clinical syndrome - - - - - - - - 603494 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=603494 - Coloboma-osteopetrosis-microphthalmia-macrocephaly-albinism-deafness syndrome - - Malformation syndrome - - - - - - - - 633014 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=633014 - SLC12A2-related developmental delay-intellectual disability-sensorineural deafness syndrome - - Disease - - - - - - 633021 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=633021 - SLC12A2-related autosomal recessive neonatal-developmental delay-intellectual disability-feeding difficulty-sensorineural deafness syndrome - - Clinical subtype - - - - - - - - 633024 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=633024 - SLC12A2-related autosomal dominant infantile-developmental delay-intellectual disability-sensorineural deafness syndrome - - Clinical subtype - - - - - - - - - - 280 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280 - Wolf-Hirschhorn syndrome - - Malformation syndrome - - - - - - - - 662179 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662179 - Microcephaly-hearing loss-facial dysmorphism-intellectual disability syndrome - - Malformation syndrome - - - - - - - - 684216 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=684216 - Intellectual disability-facial dysmorphism-joint hypermobility-hearing loss syndrome - - Malformation syndrome - - - - - - - - 688581 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=688581 - Midface hypoplasia-hearing impairment-elliptocytosis-nephrocalcinosis syndrome - - Malformation syndrome - - - - - - - - 688642 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=688642 - Turnpenny-Fry syndrome - - Malformation syndrome - - - - - - - - 652532 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=652532 - Adult-onset progressive leukoencephalopathy-early-onset deafness - - Disease - - - - - - - - 656130 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=656130 - PBX1-related congenital anomalies of kidney-urinary tract syndrome - - Disease - - - - - - - - 659975 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=659975 - Sensorineural hearing loss-spastic quadriplegia-intellectual disability syndrome - - Malformation syndrome - - - - - - - - - - - - 922 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=922 - Familial nasal acilia - - Disease - - - - - - - - 88620 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88620 - Isolated congenital anosmia - - Disease - - - - - - - - 435603 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435603 - Genetic otorhinolaryngological malformation - - Category - - - - - - 156243 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156243 - Pinnae and external auditory canal anomaly - - Category - - - - - - 83463 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83463 - Microtia - - Morphological anomaly - - - - - - - - 93976 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93976 - Anotia - - Morphological anomaly - - - - - - - - 141074 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141074 - External auditory canal aplasia/hypoplasia - - Morphological anomaly - - - - - - - - 3023 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3023 - External auditory canal atresia-vertical talus-hypertelorism syndrome - - Malformation syndrome - - - - - - - - 397623 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397623 - Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome - - Malformation syndrome - - - - - - - - 500188 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500188 - X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome - - Malformation syndrome - - - - - - - - - - 435606 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435606 - Genetic nose and cavum anomaly - - Category - - - - - - 2250 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2250 - Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome - - Disease - - - - - - - - 1200 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1200 - Burn-McKeown syndrome - - Malformation syndrome - - - - - - - - 1252 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1252 - Blepharonasofacial malformation syndrome - - Malformation syndrome - - - - - - - - 2363 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2363 - Lacrimoauriculodentodigital syndrome - - Malformation syndrome - - - - - - - - 2695 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2695 - Bifid nose - - Malformation syndrome - - - - - - - - 3026 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3026 - Radial ray hypoplasia-choanal atresia syndrome - - Malformation syndrome - - - - - - - - 137622 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137622 - Intractable diarrhea-choanal atresia-eye anomalies syndrome - - Malformation syndrome - - - - - - - - 217266 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217266 - BNAR syndrome - - Malformation syndrome - - - - - - - - 451612 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=451612 - Familial congenital nasolacrimal duct obstruction - - Morphological anomaly - - - - - - - - 99141 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99141 - Lymphedema-posterior choanal atresia syndrome - - Malformation syndrome - - - - - - - - 589856 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589856 - Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome - - Malformation syndrome - - - - - - - - - - 435609 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435609 - Genetic larynx anomaly - - Category - - - - - - 2373 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2373 - Congenital laryngomalacia - - Malformation syndrome - - - - - - - - 2374 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2374 - Isolated congenital laryngeal web - - Malformation syndrome - - - - - - - - 1202 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1202 - Larynx atresia - - Malformation syndrome - - - - - - - - 2291 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2291 - Congenital velopharyngeal incompetence - - Morphological anomaly - - - - - - - - 2808 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2808 - Laryngeal abductor paralysis - - Malformation syndrome - - - - - - - - - - 435612 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435612 - Genetic tracheal anomaly - - Category - - - - - - 95430 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95430 - Congenital tracheomalacia - - Morphological anomaly - - - - - - - - 141127 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141127 - Congenital tracheal stenosis - - Morphological anomaly - - - - - - - - - - - - - - 98054 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98054 - Rare genetic cardiac disease - - Category - - - - - - 478049 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=478049 - Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome - - Disease - - - - - - - - 477805 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477805 - Genetic cardiac malformation - - Category - - - - - - 555877 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=555877 - FLNA-related X-linked myxomatous valvular dysplasia - - Morphological anomaly - - - - - - - - 1880 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1880 - Ebstein malformation of the tricuspid valve - - Morphological anomaly - - - - - - - - 3384 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3384 - Common arterial trunk - - Morphological anomaly - - - - - - 665058 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=665058 - Common arterial trunk with pulmonary dominance and interrupted aortic arch - - Clinical subtype - - - - - - - - 665044 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=665044 - Common arterial trunk with aortic dominance - - Clinical subtype - - - - - - - - - - 1677 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1677 - Familial idiopathic dilatation of the right atrium - - Morphological anomaly - - - - - - - - 54260 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=54260 - Left ventricular noncompaction - - Disease - - - - - - - - - - 247 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247 - Inherited arrhythmogenic cardiomyopathy - - Clinical group - - - - - - 34217 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=34217 - Naxos disease - - Disease - - - - - - - - 217656 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217656 - Inherited isolated arrhythmogenic cardiomyopathy - - Disease - - - - - - 293888 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293888 - Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant - - Clinical subtype - - - - - - - - 293899 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293899 - Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant - - Clinical subtype - - - - - - - - 293910 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293910 - Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant - - Clinical subtype - - - - - - - - - - - - 99739 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99739 - Rare familial disorder with hypertrophic cardiomyopathy - - Category - - - - - - 217572 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217572 - Glycogen storage disease with hypertrophic cardiomyopathy - - Category - - - - - - 439854 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439854 - Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease - - Disease - - - - - - - - 365 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=365 - Glycogen storage disease due to acid maltase deficiency - - Disease - - - - - - 308552 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308552 - Glycogen storage disease due to acid maltase deficiency, infantile onset - - Clinical subtype - - - - - - - - 420429 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420429 - Glycogen storage disease due to acid maltase deficiency, late-onset - - Clinical subtype - - - - - - - - - - 366 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=366 - Glycogen storage disease due to glycogen debranching enzyme deficiency - - Disease - - - - - - - - 34587 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=34587 - Danon disease - - Disease - - - - - - - - 137625 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137625 - Glycogen storage disease due to muscle and heart glycogen synthase deficiency - - Disease - - - - - - - - - - 217581 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217581 - Lysosomal disease with hypertrophic cardiomyopathy - - Category - - - - - - 118 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=118 - Beta-mannosidosis - - Disease - - - - - - - - 349 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=349 - Fucosidosis - - Disease - - - - - - - - 365 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=365 - Glycogen storage disease due to acid maltase deficiency - - Disease - - - - - - 308552 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308552 - Glycogen storage disease due to acid maltase deficiency, infantile onset - - Clinical subtype - - - - - - - - 420429 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420429 - Glycogen storage disease due to acid maltase deficiency, late-onset - - Clinical subtype - - - - - - - - - - 324 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324 - Fabry disease - - Disease - - - - - - - - 580 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=580 - Mucopolysaccharidosis type 2 - - Disease - - - - - - 217085 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217085 - Mucopolysaccharidosis type 2, severe form - - Clinical subtype - - - - - - - - 217093 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217093 - Mucopolysaccharidosis type 2, attenuated form - - Clinical subtype - - - - - - - - - - 93473 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93473 - Hurler syndrome - - Clinical subtype - - - - - - - - 93476 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93476 - Hurler-Scheie syndrome - - Clinical subtype - - - - - - - - - - 217587 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217587 - Mitochondrial disease with hypertrophic cardiomyopathy - - Category - - - - - - 550 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=550 - MELAS - - Disease - - - - - - - - 551 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=551 - MERRF - - Disease - - - - - - - - 1349 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1349 - Mitochondrial DNA-related cardiomyopathy and hearing loss - - Malformation syndrome - - - - - - - - 1369 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1369 - Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome - - Disease - - - - - - - - 99718 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99718 - Leber plus disease - - Disease - - - - - - - - 314637 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314637 - Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency - - Disease - - - - - - - - 319678 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319678 - Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome - - Disease - - - - - - - - 324525 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324525 - Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation - - Disease - - - - - - - - 352563 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352563 - Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency - - Disease - - - - - - - - 369913 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369913 - Combined oxidative phosphorylation defect type 17 - - Disease - - - - - - - - 444013 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444013 - Combined oxidative phosphorylation defect type 23 - - Disease - - - - - - - - 496790 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=496790 - Ocular anomalies-axonal neuropathy-developmental delay syndrome - - Disease - - - - - - - - 457185 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457185 - Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome - - Disease - - - - - - - - 570491 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=570491 - QRSL1-related combined oxidative phosphorylation defect - - Disease - - - - - - - - 656279 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=656279 - 1p36.33 duplication syndrome - - Disease - - - - - - - - - - 217591 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217591 - Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy - - Category - - - - - - 746 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=746 - Mitochondrial trifunctional protein deficiency - - Disease - - - - - - - - 159 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=159 - Carnitine-acylcarnitine translocase deficiency - - Disease - - - - - - - - 5 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=5 - Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency - - Disease - - - - - - - - 26791 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=26791 - Multiple acyl-CoA dehydrogenase deficiency - - Disease - - - - - - 394529 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=394529 - Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type - - Clinical subtype - - - - - - - - 394532 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=394532 - Multiple acyl-CoA dehydrogenase deficiency, mild type - - Clinical subtype - - - - - - - - - - 26793 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=26793 - Very long chain acyl-CoA dehydrogenase deficiency - - Disease - - - - - - - - 99901 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99901 - Acyl-CoA dehydrogenase 9 deficiency - - Disease - - - - - - - - - - 217595 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217595 - Syndrome associated with hypertrophic cardiomyopathy - - Category - - - - - - 95 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95 - Friedreich ataxia - - Disease - - - - - - - - 273 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=273 - Steinert myotonic dystrophy - - Disease - - - - - - 589824 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589824 - Childhood-onset Steinert myotonic dystrophy - - Clinical subtype - - - - - - - - 589827 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589827 - Juvenile-onset Steinert myotonic dystrophy - - Clinical subtype - - - - - - - - 589830 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589830 - Adult-onset Steinert myotonic dystrophy - - Clinical subtype - - - - - - - - 589833 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589833 - Late-onset Steinert myotonic dystrophy - - Clinical subtype - - - - - - - - 589821 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589821 - Congenital-onset Steinert myotonic dystrophy - - Clinical subtype - - - - - - - - - - 116 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=116 - Beckwith-Wiedemann syndrome - - Malformation syndrome - - - - - - 96076 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96076 - Beckwith-Wiedemann syndrome due to 11p15 microduplication - - Etiological subtype - - - - - - - - 96193 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96193 - Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11 - - Etiological subtype - - - - - - - - 231117 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231117 - Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 - - Etiological subtype - - - - - - - - 231120 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231120 - Beckwith-Wiedemann syndrome due to CDKN1C mutation - - Etiological subtype - - - - - - - - 231127 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231127 - Beckwith-Wiedemann syndrome due to 11p15 microdeletion - - Etiological subtype - - - - - - - - 231130 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231130 - Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion - - Etiological subtype - - - - - - - - 238613 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238613 - Beckwith-Wiedemann syndrome due to NSD1 mutation - - Etiological subtype - - - - - - - - - - 91130 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91130 - Cardiomyopathy-hypotonia-lactic acidosis syndrome - - Disease - - - - - - - - 228012 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228012 - Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome - - Disease - - - - - - - - 98909 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98909 - Desminopathy - - Disease - - - - - - - - 3071 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3071 - Costello syndrome - - Malformation syndrome - - - - - - - - 2701 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2701 - Noonan syndrome-like disorder with loose anagen hair - - Malformation syndrome - - - - - - - - 648 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=648 - Noonan syndrome - - Malformation syndrome - - - - - - - - 500 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500 - Noonan syndrome with multiple lentigines - - Malformation syndrome - - - - - - - - 363972 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363972 - Noonan syndrome-like disorder with juvenile myelomonocytic leukemia - - Malformation syndrome - - - - - - - - 399058 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399058 - Alpha-B crystallin-related late-onset myopathy - - Disease - - - - - - - - 1340 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1340 - Cardiofaciocutaneous syndrome - - Malformation syndrome - - - - - - - - 693647 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=693647 - Agammaglobulinemia-early-onset hypertrophic cardiomyopathy-neutropenia syndrome - - Disease - - - - - - - - - - - - 101934 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101934 - Genetic cardiac rhythm disease - - Category - - - - - - 768 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=768 - Congenital long QT syndrome - - Clinical group - - - - - - 65283 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65283 - Timothy syndrome - - Malformation syndrome - - - - - - 595098 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=595098 - Timothy syndrome type 1 - - Clinical subtype - - - - - - - - 595105 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=595105 - Timothy syndrome type 2 - - Clinical subtype - - - - - - - - 595109 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=595109 - Atypical Timothy syndrome - - Clinical subtype - - - - - - - - - - 90647 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90647 - Jervell and Lange-Nielsen syndrome - - Disease - - - - - - - - 101016 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101016 - Romano-Ward syndrome - - Disease - - - - - - - - - - 871 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=871 - Hereditary progressive cardiac conduction defect - - Disease - - - - - - - - 1344 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1344 - Isolated atrial standstill - - Disease - - - - - - - - 392 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=392 - Holt-Oram syndrome - - Malformation syndrome - - - - - - - - 1342 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1342 - Heart-hand syndrome type 3 - - Malformation syndrome - - - - - - - - 1350 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1350 - Heart-hand syndrome type 2 - - Malformation syndrome - - - - - - - - 2946 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2946 - Brachydactyly-long thumb syndrome - - Malformation syndrome - - - - - - - - 1479 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1479 - Atrial septal defect-atrioventricular conduction defects syndrome - - Malformation syndrome - - - - - - - - 3283 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3283 - His bundle tachycardia - - Disease - - - - - - - - 3286 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3286 - Catecholaminergic polymorphic ventricular tachycardia - - Disease - - - - - - - - 130 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=130 - Brugada syndrome - - Disease - - - - - - - - 334 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=334 - Hereditary atrial fibrillation - - Disease - - - - - - - - 51083 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=51083 - Congenital short QT syndrome - - Disease - - - - - - - - 51084 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=51084 - Torsade-de-pointes syndrome with short coupling interval - - Disease - - - - - - - - 60041 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=60041 - Congenital heart block - - Disease - - - - - - - - 137675 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137675 - Histiocytoid cardiomyopathy - - Disease - - - - - - - - 166282 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166282 - Hereditary sick sinus syndrome - - Disease - - - - - - - - 168796 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168796 - Heart-hand syndrome, Slovenian type - - Malformation syndrome - - - - - - - - 228012 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228012 - Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome - - Disease - - - - - - - - 228140 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228140 - Idiopathic ventricular fibrillation - - Disease - - - - - - - - 324321 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324321 - Sinoatrial node dysfunction and deafness - - Disease - - - - - - - - 324410 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324410 - X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome - - Disease - - - - - - - - 435988 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435988 - Chronic atrial and intestinal dysrhythmia syndrome - - Disease - - - - - - - - 436242 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436242 - Hereditary atrial tachyarrhythmia-infra-Hisian cardiac conduction disease - - Disease - - - - - - - - 37553 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=37553 - Andersen-Tawil syndrome - - Disease - - - - - - - - 480864 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480864 - Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome - - Disease - - - - - - - - 542306 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=542306 - GNB5-related intellectual disability-cardiac arrhythmia syndrome - - Disease - - - - - - - - 476084 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=476084 - BVES-related limb-girdle muscular dystrophy - - Disease - - - - - - - - - - 156532 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156532 - Rare syndrome with cardiac malformations - - Category - - - - - - 488618 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488618 - Transketolase deficiency - - Malformation syndrome - - - - - - - - 467176 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=467176 - Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome - - Disease - - - - - - - - 521438 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521438 - Congenital vertebral-cardiac-renal anomalies syndrome - - Malformation syndrome - - - - - - - - 138 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=138 - CHARGE syndrome - - Malformation syndrome - - - - - - - - 567 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=567 - 22q11.2 deletion syndrome - - Malformation syndrome - - - - - - - - 904 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=904 - Williams syndrome - - Malformation syndrome - - - - - - - - 52 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52 - Alagille syndrome - - Malformation syndrome - - - - - - 261600 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261600 - Alagille syndrome due to 20p12 microdeletion - - Etiological subtype - - - - - - - - 261619 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261619 - Alagille syndrome due to a JAG1 point mutation - - Etiological subtype - - - - - - - - 261629 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261629 - Alagille syndrome due to a NOTCH2 point mutation - - Etiological subtype - - - - - - - - - - 289 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289 - Ellis Van Creveld syndrome - - Malformation syndrome - - - - - - - - 392 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=392 - Holt-Oram syndrome - - Malformation syndrome - - - - - - - - 1352 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1352 - Atrioventricular defect-blepharophimosis-radial and anal defect syndrome - - Malformation syndrome - - - - - - - - 2516 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2516 - Microcephaly-cardiac defect-lung malsegmentation syndrome - - Malformation syndrome - - - - - - - - 2886 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2886 - TARP syndrome - - Malformation syndrome - - - - - - - - 1479 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1479 - Atrial septal defect-atrioventricular conduction defects syndrome - - Malformation syndrome - - - - - - - - 3316 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3316 - Thomas syndrome - - Malformation syndrome - - - - - - - - 42775 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=42775 - PHACE syndrome - - Malformation syndrome - - - - - - - - 69737 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69737 - Bosley-Salih-Alorainy syndrome - - Malformation syndrome - - - - - - - - 75389 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75389 - Brain malformation-congenital heart disease-postaxial polydactyly syndrome - - Malformation syndrome - - - - - - - - 137628 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137628 - Cardiac anomalies-heterotaxy syndrome - - Malformation syndrome - - - - - - - - 217026 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217026 - Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type - - Malformation syndrome - - - - - - - - 228190 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228190 - Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome - - Malformation syndrome - - - - - - - - 228410 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228410 - Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome - - Malformation syndrome - - - - - - 664404 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=664404 - 6q25.1 microdeletion syndrome - - Etiological subtype - - - - - - - - 664401 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=664401 - Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome due to TAB2 mutation - - Etiological subtype - - - - - - - - - - 230851 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=230851 - Cardiac-valvular Ehlers-Danlos syndrome - - Disease - - - - - - - - 284247 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284247 - Familial retinal arterial macroaneurysm - - Malformation syndrome - - - - - - - - 371183 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=371183 - Congenital disorder of glycosylation with cardiac malformation as a major feature - - Category - - - - - - 709 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=709 - Peters plus syndrome - - Malformation syndrome - - - - - - - - 2953 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2953 - Musculocontractural Ehlers-Danlos syndrome - - Disease - - - - - - - - 3474 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3474 - CHIME syndrome - - Malformation syndrome - - - - - - - - 79329 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79329 - MGAT2-CDG - - Disease - - - - - - - - 79333 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79333 - COG7-CDG - - Disease - - - - - - - - 284139 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284139 - Larsen-like syndrome, B3GAT3 type - - Malformation syndrome - - - - - - - - - - 444077 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444077 - Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome - - Malformation syndrome - - - - - - - - 2475 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2475 - White forelock with malformations - - Malformation syndrome - - - - - - - - 453499 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=453499 - Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome - - Malformation syndrome - - - - - - 352665 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352665 - Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion - - Etiological subtype - - - - - - - - 453504 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=453504 - Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation - - Etiological subtype - - - - - - - - - - 3191 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3191 - Subaortic stenosis-short stature syndrome - - Malformation syndrome - - - - - - - - 369891 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369891 - Developmental delay-facial dysmorphism syndrome due to MED13L deficiency - - Malformation syndrome - - - - - - - - 98733 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98733 - Noonan syndrome and Noonan-related syndrome - - Category - - - - - - 648 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=648 - Noonan syndrome - - Malformation syndrome - - - - - - - - 3071 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3071 - Costello syndrome - - Malformation syndrome - - - - - - - - 500 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500 - Noonan syndrome with multiple lentigines - - Malformation syndrome - - - - - - - - 1340 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1340 - Cardiofaciocutaneous syndrome - - Malformation syndrome - - - - - - - - 2701 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2701 - Noonan syndrome-like disorder with loose anagen hair - - Malformation syndrome - - - - - - - - 363972 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363972 - Noonan syndrome-like disorder with juvenile myelomonocytic leukemia - - Malformation syndrome - - - - - - - - 638 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=638 - Neurofibromatosis-Noonan syndrome - - Malformation syndrome - - - - - - - - - - 457193 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457193 - KAT6-related intellectual disability-craniofacial anomalies-cardiac defects syndrome - - Malformation syndrome - - - - - - - - 562569 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=562569 - TMEM94-associated congenital heart defect-facial dysmorphism-developmental delay syndrome - - Malformation syndrome - - - - - - - - 870 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=870 - Down syndrome - - Malformation syndrome - - - - - - - - 2519 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2519 - Microcephaly-seizures-intellectual disability-heart disease syndrome - - Malformation syndrome - - - - - - - - 496693 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=496693 - Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome - - Malformation syndrome - - - - - - - - 508476 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508476 - Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome - - Malformation syndrome - - - - - - - - 508488 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508488 - 8q24.3 microdeletion syndrome - - Malformation syndrome - - - - - - - - 508498 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508498 - Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome - - Malformation syndrome - - - - - - - - 1354 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1354 - Heart defects-limb shortening syndrome - - Malformation syndrome - - - - - - - - 580933 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=580933 - Lethal brain and heart developmental defects - - Malformation syndrome - - - - - - - - 589435 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589435 - Spondylometaphyseal dysplasia-corneal dystrophy syndrome - - Malformation syndrome - - - - - - - - 592570 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=592570 - TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome - - Malformation syndrome - - - - - - - - 597743 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=597743 - SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome - - Malformation syndrome - - - - - - - - 664438 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=664438 - Gingival fibromatosis-aortic root dilatation-facial dysmorphism-intellectual disability syndrome - - Malformation syndrome - - - - - - - - 684305 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=684305 - Neurooculocardiogenitourinary syndrome - - Disease - - - - - - - - 684742 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=684742 - 2q13 microdeletion syndrome - - Malformation syndrome - - - - - - - - 688642 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=688642 - Turnpenny-Fry syndrome - - Malformation syndrome - - - - - - - - 689822 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=689822 - Structural heart defects-renal anomalies syndrome - - Malformation syndrome - - - - - - - - 646278 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=646278 - CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome - - Disease - - - - - - - - - - 217607 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217607 - Familial dilated cardiomyopathy - - Category - - - - - - 2119 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2119 - HEC syndrome - - Malformation syndrome - - - - - - - - 367 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=367 - Glycogen storage disease due to glycogen branching enzyme deficiency - - Disease - - - - - - 206583 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206583 - Adult polyglucosan body disease - - Clinical subtype - - - - - - - - 308621 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308621 - Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form - - Clinical subtype - - - - - - - - 308638 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308638 - Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form - - Clinical subtype - - - - - - - - 308655 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308655 - Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form - - Clinical subtype - - - - - - - - 308670 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308670 - Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form - - Clinical subtype - - - - - - - - 308684 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308684 - Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form - - Clinical subtype - - - - - - - - 308698 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308698 - Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form - - Clinical subtype - - - - - - - - 308712 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308712 - Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form - - Clinical subtype - - - - - - - - - - 154 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=154 - Familial isolated dilated cardiomyopathy - - Disease - - - - - - - - 217610 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217610 - Neuromuscular disease with dilated cardiomyopathy - - Category - - - - - - 262 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=262 - Duchenne and Becker muscular dystrophy - - Clinical group - - - - - - 98895 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98895 - Becker muscular dystrophy - - Disease - - - - - - - - 98896 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98896 - Duchenne muscular dystrophy - - Disease - - - - - - - - 206546 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206546 - Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers - - Disease - - - - - - - - - - 261 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261 - Emery-Dreifuss muscular dystrophy - - Disease - - - - - - 98853 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98853 - Autosomal dominant Emery-Dreifuss muscular dystrophy - - Etiological subtype - - - - - - - - 98855 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98855 - Autosomal recessive Emery-Dreifuss muscular dystrophy - - Etiological subtype - - - - - - - - 98863 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98863 - X-linked Emery-Dreifuss muscular dystrophy - - Etiological subtype - - - - - - - - - - 62 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=62 - Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3 - - Disease - - - - - - - - 119 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=119 - Beta-sarcoglycan-related limb-girdle muscular dystrophy R4 - - Disease - - - - - - - - 353 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353 - Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 - - Disease - - - - - - - - 219 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=219 - Delta-sarcoglycan-related limb-girdle muscular dystrophy R6 - - Disease - - - - - - - - 98909 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98909 - Desminopathy - - Disease - - - - - - - - 206554 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206554 - Fukutin-related limb-girdle muscular dystrophy R13 - - Disease - - - - - - - - 289377 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289377 - Early-onset myopathy with fatal cardiomyopathy - - Disease - - - - - - - - 397937 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397937 - Polyglucosan body myopathy type 1 - - Disease - - - - - - - - - - 217613 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217613 - Mitochondrial disease with dilated cardiomyopathy - - Category - - - - - - 480 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480 - Kearns-Sayre syndrome - - Disease - - - - - - - - 550 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=550 - MELAS - - Disease - - - - - - - - 551 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=551 - MERRF - - Disease - - - - - - - - 111 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=111 - Barth syndrome - - Disease - - - - - - - - 99718 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99718 - Leber plus disease - - Disease - - - - - - - - 137675 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137675 - Histiocytoid cardiomyopathy - - Disease - - - - - - - - - - 217616 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217616 - Fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy - - Category - - - - - - 158 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158 - Systemic primary carnitine deficiency - - Disease - - - - - - - - 99901 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99901 - Acyl-CoA dehydrogenase 9 deficiency - - Disease - - - - - - - - - - 217619 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217619 - Syndrome associated with dilated cardiomyopathy - - Category - - - - - - 64 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64 - Alström syndrome - - Disease - - - - - - - - 1345 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1345 - Cardiomyopathy-cataract-hip spine disease syndrome - - Disease - - - - - - - - 1493 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1493 - Vici syndrome - - Malformation syndrome - - - - - - - - 1606 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1606 - 1p36 deletion syndrome - - Malformation syndrome - - - - - - - - 2229 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2229 - Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome - - Malformation syndrome - - - - - - - - 2515 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2515 - Microcephaly-cardiomyopathy syndrome - - Malformation syndrome - - - - - - - - 59306 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=59306 - McLeod neuroacanthocytosis syndrome - - Disease - - - - - - - - 65282 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65282 - Carvajal syndrome - - Disease - - - - - - - - 66634 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66634 - Dilated cardiomyopathy with ataxia - - Disease - - - - - - - - 73224 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73224 - Kidney tubulopathy-dilated cardiomyopathy syndrome - - Disease - - - - - - - - 79159 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79159 - Isobutyryl-CoA dehydrogenase deficiency - - Disease - - - - - - - - 168796 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168796 - Heart-hand syndrome, Slovenian type - - Malformation syndrome - - - - - - - - 217622 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217622 - Sensorineural deafness with dilated cardiomyopathy - - Disease - - - - - - - - 476096 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=476096 - Erythrokeratodermia-cardiomyopathy syndrome - - Disease - - - - - - - - 2663 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2663 - Nathalie syndrome - - Malformation syndrome - - - - - - - - - - 300751 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300751 - Familial dilated cardiomyopathy with conduction defect due to LMNA mutation - - Disease - - - - - - - - 371176 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=371176 - Congenital disorder of glycosylation with dilated cardiomyopathy - - Category - - - - - - 91131 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91131 - DK1-CDG - - Disease - - - - - - - - 206554 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206554 - Fukutin-related limb-girdle muscular dystrophy R13 - - Disease - - - - - - - - 263494 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263494 - DPM3-CDG - - Disease - - - - - - - - 319646 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319646 - PGM1-CDG - - Disease - - - - - - - - - - 34587 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=34587 - Danon disease - - Disease - - - - - - - - - - 217635 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217635 - Familial restrictive cardiomyopathy - - Category - - - - - - 2119 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2119 - HEC syndrome - - Malformation syndrome - - - - - - - - 1344 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1344 - Isolated atrial standstill - - Disease - - - - - - - - 758 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=758 - Pseudoxanthoma elasticum - - Disease - - - - - - - - 75249 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75249 - Familial isolated restrictive cardiomyopathy - - Disease - - - - - - - - 271861 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=271861 - Hereditary ATTR amyloidosis - - Disease - - - - - - 85447 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85447 - ATTRV30M amyloidosis - - Clinical subtype - - - - - - - - 85451 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85451 - ATTRV122I amyloidosis - - Clinical subtype - - - - - - - - - - 98909 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98909 - Desminopathy - - Disease - - - - - - - - 217638 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217638 - Lysosomal disease with restrictive cardiomyopathy - - Category - - - - - - 365 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=365 - Glycogen storage disease due to acid maltase deficiency - - Disease - - - - - - 308552 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308552 - Glycogen storage disease due to acid maltase deficiency, infantile onset - - Clinical subtype - - - - - - - - 420429 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420429 - Glycogen storage disease due to acid maltase deficiency, late-onset - - Clinical subtype - - - - - - - - - - 324 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324 - Fabry disease - - Disease - - - - - - - - 77259 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77259 - Gaucher disease type 1 - - Clinical subtype - - - - - - - - 93473 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93473 - Hurler syndrome - - Clinical subtype - - - - - - - - - - - - 363618 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363618 - LMNA-related cardiocutaneous progeria syndrome - - Disease - - - - - - - - - - 98056 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98056 - Rare genetic renal disease - - Category - - - - - - 93587 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93587 - Genetic cystic renal disease - - Category - - - - - - 1515 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1515 - Cranioectodermal dysplasia - - Malformation syndrome - - - - - - - - 731 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=731 - Autosomal recessive polycystic kidney disease - - Disease - - - - - - - - 892 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=892 - Von Hippel-Lindau disease - - Disease - - - - - - - - 564 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=564 - Meckel syndrome - - Malformation syndrome - - - - - - - - 805 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=805 - Tuberous sclerosis complex - - Disease - - - - - - - - 2031 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2031 - Hepatic fibrosis-renal cysts-intellectual disability syndrome - - Malformation syndrome - - - - - - - - 2666 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2666 - Adult familial nephronophthisis-spastic quadriparesia syndrome - - Disease - - - - - - - - 140969 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140969 - Saldino-Mainzer syndrome - - Disease - - - - - - - - 79118 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79118 - Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome - - Disease - - - - - - - - 294415 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294415 - Renal-hepatic-pancreatic dysplasia - - Malformation syndrome - - - - - - - - 88924 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88924 - Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis - - Disease - - - - - - - - 220497 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220497 - Joubert syndrome with renal defect - - Malformation syndrome - - - - - - - - 401996 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401996 - Karyomegalic interstitial nephritis - - Disease - - - - - - - - 443988 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443988 - Ventriculomegaly-cystic kidney disease - - Disease - - - - - - - - 2318 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2318 - Joubert syndrome with oculorenal defect - - Malformation syndrome - - - - - - - - 140976 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140976 - RHYNS syndrome - - Disease - - - - - - - - 3156 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3156 - Senior-Loken syndrome - - Disease - - - - - - - - 84081 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=84081 - Senior-Boichis syndrome - - Disease - - - - - - - - 289 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289 - Ellis Van Creveld syndrome - - Malformation syndrome - - - - - - - - 730 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=730 - Autosomal dominant polycystic kidney disease - - Disease - - - - - - - - 34149 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=34149 - Autosomal dominant tubulointerstitial kidney disease - - Disease - - - - - - 88949 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88949 - MUC1-related autosomal dominant tubulointerstitial kidney disease - - Clinical subtype - - - - - - - - 88950 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88950 - UMOD-related autosomal dominant tubulointerstitial kidney disease - - Clinical subtype - - - - - - - - 93111 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93111 - HNF1B-related autosomal dominant tubulointerstitial kidney disease - - Clinical subtype - - - - - - - - 217330 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217330 - REN-related autosomal dominant tubulointerstitial kidney disease - - Clinical subtype - - - - - - - - - - 655 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=655 - Nephronophthisis - - Disease - - - - - - 93589 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93589 - Late-onset nephronophthisis - - Clinical subtype - - - - - - - - 93591 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93591 - Infantile nephronophthisis - - Clinical subtype - - - - - - - - 93592 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93592 - Juvenile nephronophthisis - - Clinical subtype - - - - - - - - - - 110 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=110 - Bardet-Biedl syndrome - - Disease - - - - - - - - - - 93593 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93593 - Nephropathy secondary to a storage or other metabolic disease - - Category - - - - - - 324 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324 - Fabry disease - - Disease - - - - - - - - 905 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=905 - Wilson disease - - Disease - - - - - - - - 60 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=60 - Alpha-1-antitrypsin deficiency - - Disease - - - - - - - - 912 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=912 - Zellweger syndrome - - Disease - - - - - - - - 352 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352 - Galactosemia - - Category - - - - - - 79237 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79237 - Galactokinase deficiency - - Disease - - - - - - - - 79238 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79238 - Galactose epimerase deficiency - - Disease - - - - - - 308473 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308473 - Erythrocyte galactose epimerase deficiency - - Clinical subtype - - - - - - - - 308487 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308487 - Generalized galactose epimerase deficiency - - Clinical subtype - - - - - - - - - - 79239 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79239 - Classic galactosemia - - Disease - - - - - - - - 570422 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=570422 - Galactose mutarotase deficiency - - Disease - - - - - - - - - - 2116 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2116 - Hartnup disease - - Disease - - - - - - - - 469 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=469 - Hereditary fructose intolerance - - Disease - - - - - - - - 364 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=364 - Glycogen storage disease due to glucose-6-phosphatase deficiency - - Disease - - - - - - 79258 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79258 - Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia - - Clinical subtype - - - - - - - - 79259 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79259 - Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib - - Clinical subtype - - - - - - - - - - 738 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=738 - Porphyria - - Clinical group - - - - - - 659681 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=659681 - Erythropoietic porphyria - - Clinical group - - - - - - 79277 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79277 - Congenital erythropoietic porphyria - - Disease - - - - - - - - 79278 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79278 - Autosomal erythropoietic protoporphyria - - Disease - - - - - - - - 443197 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443197 - X-linked erythropoietic protoporphyria - - Disease - - - - - - - - 280379 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280379 - Erythropoietic uroporphyria associated with myeloid malignancy - - Disease - - - - - - - - 95159 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95159 - Hepatoerythropoietic porphyria - - Disease - - - - - - - - 659672 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=659672 - Harderoporphyria - - Disease - - - - - - - - - - 659694 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=659694 - Hepatic porphyria - - Clinical group - - - - - - 95157 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95157 - Acute hepatic porphyria - - Clinical group - - - - - - 79273 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79273 - Hereditary coproporphyria - - Disease - - - - - - - - 79276 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79276 - Acute intermittent porphyria - - Disease - - - - - - - - 79473 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79473 - Variegate porphyria - - Disease - - - - - - - - 100924 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100924 - Porphyria due to ALA dehydratase deficiency - - Disease - - - - - - - - - - 659698 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=659698 - Hepatic cutaneous porphyria - - Clinical group - - - - - - 101330 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101330 - Porphyria cutanea tarda - - Disease - - - - - - 443057 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443057 - Sporadic porphyria cutanea tarda - - Clinical subtype - - - - - - - - 443062 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443062 - Familial porphyria cutanea tarda - - Clinical subtype - - - - - - - - - - - - - - - - 3467 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3467 - Hereditary xanthinuria - - Disease - - - - - - 93601 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93601 - Xanthinuria type I - - Etiological subtype - - - - - - - - 93602 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93602 - Xanthinuria type II - - Etiological subtype - - - - - - - - - - 976 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=976 - Adenine phosphoribosyltransferase deficiency - - Disease - - - - - - - - 650 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=650 - LCAT deficiency - - Disease - - - - - - 79292 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79292 - Fish-eye disease - - Clinical subtype - - - - - - - - 79293 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79293 - Familial LCAT deficiency - - Clinical subtype - - - - - - - - - - 27 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=27 - Vitamin B12-unresponsive methylmalonic acidemia - - Disease - - - - - - 79312 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79312 - Vitamin B12-unresponsive methylmalonic acidemia type mut- - - Clinical subtype - - - - - - - - 289916 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289916 - Vitamin B12-unresponsive methylmalonic acidemia type mut0 - - Clinical subtype - - - - - - - - - - 1031 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1031 - Enamel-renal syndrome - - Malformation syndrome - - - - - - - - 3222 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3222 - Phosphoribosylpyrophosphate synthetase superactivity - - Disease - - - - - - 411536 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411536 - Mild phosphoribosylpyrophosphate synthetase superactivity - - Clinical subtype - - - - - - - - 411543 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411543 - Severe phosphoribosylpyrophosphate synthetase superactivity - - Clinical subtype - - - - - - - - - - 28 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=28 - Vitamin B12-responsive methylmalonic acidemia - - Disease - - - - - - 79310 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79310 - Vitamin B12-responsive methylmalonic acidemia type cblA - - Clinical subtype - - - - - - - - 79311 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79311 - Vitamin B12-responsive methylmalonic acidemia type cblB - - Clinical subtype - - - - - - - - 308442 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308442 - Vitamin B12-responsive methylmalonic acidemia, type cblDv2 - - Clinical subtype - - - - - - - - - - 882 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=882 - Tyrosinemia type 1 - - Disease - - - - - - - - 2088 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2088 - Fanconi-Bickel syndrome - - Disease - - - - - - - - 416 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=416 - Primary hyperoxaluria - - Disease - - - - - - 93598 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93598 - Primary hyperoxaluria type 1 - - Clinical subtype - - - - - - - - 93599 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93599 - Primary hyperoxaluria type 2 - - Clinical subtype - - - - - - - - 93600 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93600 - Primary hyperoxaluria type 3 - - Clinical subtype - - - - - - - - - - 35858 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35858 - Imerslund-Gräsbeck syndrome - - Disease - - - - - - - - 69076 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69076 - Familial renal glucosuria - - Disease - - - - - - - - 87876 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=87876 - Sialidosis type 2 - - Disease - - - - - - 93399 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93399 - Juvenile sialidosis type 2 - - Clinical subtype - - - - - - - - 93400 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93400 - Congenital sialidosis type 2 - - Clinical subtype - - - - - - - - - - 206428 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206428 - Hypoxanthine-guanine phosphoribosyltransferase deficiency - - Clinical group - - - - - - 510 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=510 - Lesch-Nyhan syndrome - - Disease - - - - - - - - 79233 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79233 - Hypoxanthine guanine phosphoribosyltransferase partial deficiency - - Disease - - - - - - - - - - 247794 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247794 - Juvenile cataract-microcornea-renal glucosuria syndrome - - Disease - - - - - - - - 300547 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300547 - Autosomal recessive infantile hypercalcemia - - Disease - - - - - - - - 371207 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=371207 - Congenital disorder of glycosylation with nephropathy as a major feature - - Category - - - - - - 2953 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2953 - Musculocontractural Ehlers-Danlos syndrome - - Disease - - - - - - - - 79325 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79325 - ALG8-CDG - - Disease - - - - - - - - 238459 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238459 - SLC35A1-CDG - - Disease - - - - - - - - - - 411629 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411629 - Infantile nephropathic cystinosis - - Clinical subtype - - - - - - - - 411634 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411634 - Juvenile nephropathic cystinosis - - Clinical subtype - - - - - - - - 324525 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324525 - Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation - - Disease - - - - - - - - 620371 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=620371 - Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation - - Disease - - - - - - - - - - 93614 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93614 - Hematological disorder with renal involvement - - Category - - - - - - 846 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=846 - Alpha-thalassemia - - Disease - - - - - - 93616 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93616 - Hemoglobin H disease - - Clinical subtype - - - - - - - - 163596 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163596 - Hb Bart's hydrops fetalis - - Clinical subtype - - - - - - - - - - 848 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=848 - Beta-thalassemia - - Disease - - - - - - 231214 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231214 - Beta-thalassemia major - - Clinical subtype - - - - - - - - 231222 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231222 - Beta-thalassemia intermedia - - Clinical subtype - - - - - - - - 231226 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231226 - Dominant beta-thalassemia - - Clinical subtype - - - - - - - - - - 232 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=232 - Sickle cell anemia - - Disease - - - - - - - - 84 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=84 - Fanconi anemia - - Malformation syndrome - - - - - - - - - - 156629 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156629 - Rare genetic cause of hypertension - - Category - - - - - - 636 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=636 - Neurofibromatosis type 1 - - Disease - - - - - - 97685 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97685 - 17q11 microdeletion syndrome - - Clinical subtype - - - - - - - - 363700 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363700 - Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion - - Etiological subtype - - - - - - - - - - 526 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=526 - Liddle syndrome - - Disease - - - - - - - - 1276 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1276 - Brachydactyly-arterial hypertension syndrome - - Malformation syndrome - - - - - - - - 424 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424 - Familial hyperthyroidism due to mutations in TSH receptor - - Disease - - - - - - - - 757 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=757 - Pseudohypoaldosteronism type 2 - - Disease - - - - - - 88938 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88938 - Pseudohypoaldosteronism type 2A - - Etiological subtype - - - - - - - - 88939 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88939 - Pseudohypoaldosteronism type 2B - - Etiological subtype - - - - - - - - 88940 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88940 - Pseudohypoaldosteronism type 2C - - Etiological subtype - - - - - - - - 300525 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300525 - Pseudohypoaldosteronism type 2D - - Etiological subtype - - - - - - - - 300530 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300530 - Pseudohypoaldosteronism type 2E - - Etiological subtype - - - - - - - - - - 758 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=758 - Pseudoxanthoma elasticum - - Disease - - - - - - - - 320 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=320 - Apparent mineralocorticoid excess - - Disease - - - - - - - - 88659 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88659 - Autosomal dominant progressive nephropathy with hypertension - - Disease - - - - - - - - 88660 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88660 - Hypertension due to gain-of-function mutations in the mineralocorticoid receptor - - Disease - - - - - - - - 904 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=904 - Williams syndrome - - Malformation syndrome - - - - - - - - 235936 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=235936 - Familial hyperaldosteronism - - Clinical group - - - - - - 403 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=403 - Familial hyperaldosteronism type I - - Disease - - - - - - - - 404 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404 - Familial hyperaldosteronism type II - - Disease - - - - - - - - 251274 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251274 - Familial hyperaldosteronism type III - - Disease - - - - - - - - 642671 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642671 - Familial hyperaldosteronism type IV - - Disease - - - - - - - - - - - - 183539 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183539 - Genetic renal or urinary tract malformation - - Category - - - - - - 93547 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93547 - Syndromic renal or urinary tract malformation - - Category - - - - - - 138 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=138 - CHARGE syndrome - - Malformation syndrome - - - - - - - - 783 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=783 - Rubinstein-Taybi syndrome - - Malformation syndrome - - - - - - 353277 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353277 - Rubinstein-Taybi syndrome due to CREBBP mutations - - Etiological subtype - - - - - - - - 353281 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353281 - Rubinstein-Taybi syndrome due to 16p13.3 microdeletion - - Etiological subtype - - - - - - - - 353284 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353284 - Rubinstein-Taybi syndrome due to EP300 haploinsufficiency - - Etiological subtype - - - - - - - - - - 648 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=648 - Noonan syndrome - - Malformation syndrome - - - - - - - - 893 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=893 - WAGR syndrome - - Malformation syndrome - - - - - - - - 107 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=107 - BOR syndrome - - Malformation syndrome - - - - - - - - 195 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=195 - Cat-eye syndrome - - Malformation syndrome - - - - - - - - 52 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52 - Alagille syndrome - - Malformation syndrome - - - - - - 261600 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261600 - Alagille syndrome due to 20p12 microdeletion - - Etiological subtype - - - - - - - - 261619 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261619 - Alagille syndrome due to a JAG1 point mutation - - Etiological subtype - - - - - - - - 261629 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261629 - Alagille syndrome due to a NOTCH2 point mutation - - Etiological subtype - - - - - - - - - - 116 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=116 - Beckwith-Wiedemann syndrome - - Malformation syndrome - - - - - - 96076 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96076 - Beckwith-Wiedemann syndrome due to 11p15 microduplication - - Etiological subtype - - - - - - - - 96193 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96193 - Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11 - - Etiological subtype - - - - - - - - 231117 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231117 - Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 - - Etiological subtype - - - - - - - - 231120 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231120 - Beckwith-Wiedemann syndrome due to CDKN1C mutation - - Etiological subtype - - - - - - - - 231127 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231127 - Beckwith-Wiedemann syndrome due to 11p15 microdeletion - - Etiological subtype - - - - - - - - 231130 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231130 - Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion - - Etiological subtype - - - - - - - - 238613 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238613 - Beckwith-Wiedemann syndrome due to NSD1 mutation - - Etiological subtype - - - - - - - - - - 564 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=564 - Meckel syndrome - - Malformation syndrome - - - - - - - - 289 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289 - Ellis Van Creveld syndrome - - Malformation syndrome - - - - - - - - 373 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=373 - Simpson-Golabi-Behmel syndrome - - Malformation syndrome - - - - - - - - 3027 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3027 - Caudal regression syndrome - - Malformation syndrome - - - - - - - - 2052 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2052 - Fraser syndrome - - Malformation syndrome - - - - - - - - 955 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=955 - Hajdu-Cheney syndrome - - Malformation syndrome - - - - - - - - 971 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=971 - Acrorenal syndrome - - Malformation syndrome - - - - - - - - 1064 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1064 - Aniridia-renal agenesis-psychomotor retardation syndrome - - Malformation syndrome - - - - - - - - 1133 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1133 - AREDYLD syndrome - - Malformation syndrome - - - - - - - - 1834 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1834 - Axial mesodermal dysplasia spectrum - - Malformation syndrome - - - - - - - - 1896 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1896 - EEC syndrome - - Malformation syndrome - - - - - - - - 1973 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1973 - Faciocardiorenal syndrome - - Malformation syndrome - - - - - - - - 2186 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2186 - Hydrocephalus-blue sclerae-nephropathy syndrome - - Malformation syndrome - - - - - - - - 2237 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2237 - Hypoparathyroidism-sensorineural deafness-renal disease syndrome - - Malformation syndrome - - - - - - - - 2241 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2241 - Megacystis-microcolon-intestinal hypoperistalsis syndrome - - Malformation syndrome - - - - - - - - 2256 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2256 - Fibulo-ulnar hypoplasia-renal anomalies syndrome - - Malformation syndrome - - - - - - - - 672 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=672 - Pallister-Hall syndrome - - Malformation syndrome - - - - - - - - 2278 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2278 - Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome - - Malformation syndrome - - - - - - - - 2669 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2669 - Nephrosis-deafness-urinary tract-digital malformations syndrome - - Malformation syndrome - - - - - - - - 1475 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1475 - Renal coloboma syndrome - - Malformation syndrome - - - - - - - - 2673 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2673 - Neurofaciodigitorenal syndrome - - Malformation syndrome - - - - - - - - 2697 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2697 - Arthrogryposis-renal dysfunction-cholestasis syndrome - - Malformation syndrome - - - - - - - - 2704 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2704 - Urofacial syndrome - - Malformation syndrome - - - - - - - - 2750 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2750 - Orofaciodigital syndrome type 1 - - Malformation syndrome - - - - - - - - 2774 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2774 - Multicentric carpo-tarsal osteolysis with or without nephropathy - - Malformation syndrome - - - - - - - - 2820 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2820 - Spastic paraplegia-nephritis-deafness syndrome - - Clinical syndrome - - - - - - - - 3032 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3032 - NPHP3-related Meckel-like syndrome - - Malformation syndrome - - - - - - - - 3109 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3109 - Mayer-Rokitansky-Küster-Hauser syndrome - - Malformation syndrome - - - - - - 2578 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2578 - Mayer-Rokitansky-Küster-Hauser syndrome type 2 - - Clinical subtype - - - - - - - - 247775 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247775 - Mayer-Rokitansky-Küster-Hauser syndrome type 1 - - Clinical subtype - - - - - - - - - - 798 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=798 - Schinzel-Giedion syndrome - - Malformation syndrome - - - - - - - - 3186 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3186 - Holoprosencephaly-radial heart renal anomalies syndrome - - Malformation syndrome - - - - - - - - 3316 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3316 - Thomas syndrome - - Malformation syndrome - - - - - - - - 3326 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3326 - Thymic-renal-anal-lung dysplasia - - Malformation syndrome - - - - - - - - 3327 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3327 - Thyrocerebrorenal syndrome - - Malformation syndrome - - - - - - - - 3404 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3404 - Ulbright-Hodes syndrome - - Malformation syndrome - - - - - - - - 1192 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1192 - Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome - - Malformation syndrome - - - - - - - - 818 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=818 - Smith-Lemli-Opitz syndrome - - Malformation syndrome - - - - - - - - 567 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=567 - 22q11.2 deletion syndrome - - Malformation syndrome - - - - - - - - 93111 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93111 - HNF1B-related autosomal dominant tubulointerstitial kidney disease - - Clinical subtype - - - - - - - - 217266 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217266 - BNAR syndrome - - Malformation syndrome - - - - - - - - 444069 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444069 - Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome - - Malformation syndrome - - - - - - - - 3378 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3378 - Trisomy 13 syndrome - - Malformation syndrome - - - - - - - - 3380 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3380 - Trisomy 18 syndrome - - Malformation syndrome - - - - - - - - 887 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=887 - VACTERL/VATER association - - Malformation syndrome - - - - - - - - 439897 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439897 - Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome - - Malformation syndrome - - - - - - - - 881 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=881 - Turner syndrome - - Malformation syndrome - - - - - - 99226 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99226 - Monosomy X syndrome - - Etiological subtype - - - - - - - - 99228 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99228 - Mosaic monosomy X syndrome - - Etiological subtype - - - - - - - - 99413 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99413 - Turner syndrome due to structural X chromosome anomalies - - Etiological subtype - - - - - - - - - - 3015 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3015 - Radio-renal syndrome - - Malformation syndrome - - - - - - - - 500135 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500135 - Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome - - Malformation syndrome - - - - - - - - 1756 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1756 - Caudal duplication - - Malformation syndrome - - - - - - - - 500095 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500095 - Tall stature-intellectual disability-renal anomalies syndrome - - Malformation syndrome - - - - - - - - 521438 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521438 - Congenital vertebral-cardiac-renal anomalies syndrome - - Malformation syndrome - - - - - - - - 508488 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508488 - 8q24.3 microdeletion syndrome - - Malformation syndrome - - - - - - - - 592574 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=592574 - Menke-Hennekam syndrome - - Malformation syndrome - - - - - - - - 597743 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=597743 - SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome - - Malformation syndrome - - - - - - - - 656130 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=656130 - PBX1-related congenital anomalies of kidney-urinary tract syndrome - - Disease - - - - - - - - 689822 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=689822 - Structural heart defects-renal anomalies syndrome - - Malformation syndrome - - - - - - - - - - 357506 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357506 - Genetic non-syndromic renal or urinary tract malformation - - Category - - - - - - 1851 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1851 - Multicystic dysplastic kidney - - Morphological anomaly - - - - - - 97363 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97363 - Unilateral multicystic dysplastic kidney - - Clinical subtype - - - - - - - - 97364 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97364 - Bilateral multicystic dysplastic kidney - - Clinical subtype - - - - - - - - - - 322 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=322 - Exstrophy-epispadias complex - - Malformation syndrome - - - - - - 93928 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93928 - Isolated epispadias - - Clinical subtype - - - - - - - - 93929 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93929 - Cloacal exstrophy - - Clinical subtype - - - - - - - - 93930 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93930 - Classic bladder exstrophy - - Clinical subtype - - - - - - - - - - 1309 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1309 - Medullary sponge kidney - - Morphological anomaly - - - - - - - - 237 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=237 - Duplication of urethra - - Morphological anomaly - - - - - - - - 617 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=617 - Congenital primary megaureter - - Morphological anomaly - - - - - - 238642 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238642 - Primary megaureter, adult-onset form - - Clinical subtype - - - - - - - - 238646 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238646 - Congenital primary megaureter, obstructed form - - Clinical subtype - - - - - - - - 238650 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238650 - Congenital primary megaureter, refluxing form - - Clinical subtype - - - - - - - - 238654 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238654 - Congenital primary megaureter, nonrefluxing and unobstructed form - - Clinical subtype - - - - - - - - 544578 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=544578 - Congenital primary megaureter, refluxing and obstructed form - - Clinical subtype - - - - - - - - - - 93101 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93101 - Renal hypoplasia - - Morphological anomaly - - - - - - 97361 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97361 - Renal hypoplasia, unilateral - - Clinical subtype - - - - - - - - 97362 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97362 - Renal hypoplasia, bilateral - - Clinical subtype - - - - - - - - - - 93108 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93108 - Renal dysplasia - - Morphological anomaly - - - - - - 93172 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93172 - Renal dysplasia, unilateral - - Clinical subtype - - - - - - - - 93173 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93173 - Renal dysplasia, bilateral - - Clinical subtype - - - - - - - - - - 97369 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97369 - Renal tubular dysgenesis of genetic origin - - Etiological subtype - - - - - - - - 411709 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411709 - Renal agenesis - - Morphological anomaly - - - - - - 1848 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1848 - Renal agenesis, bilateral - - Clinical subtype - - - - - - - - 93100 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93100 - Renal agenesis, unilateral - - Clinical subtype - - - - - - - - - - 435365 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435365 - Fetal lower urinary tract obstruction - - Clinical group - - - - - - 2970 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2970 - Prune belly syndrome - - Malformation syndrome - - - - - - - - 105 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=105 - Atresia of urethra - - Morphological anomaly - - - - - - - - 93110 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93110 - Posterior urethral valve - - Morphological anomaly - - - - - - - - 435372 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435372 - Anterior urethral valve - - Morphological anomaly - - - - - - - - - - - - - - 183586 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183586 - Genetic glomerular disease - - Category - - - - - - 567556 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=567556 - Genetic systemic disease with glomerulopathy as a major feature - - Category - - - - - - 575 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=575 - Muckle-Wells syndrome - - Disease - - - - - - - - 342 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=342 - Familial Mediterranean fever - - Disease - - - - - - - - 85450 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85450 - Hereditary amyloidosis with primary renal involvement - - Disease - - - - - - 93560 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93560 - AApoAI amyloidosis - - Clinical subtype - - - - - - - - 93561 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93561 - ALys amyloidosis - - Clinical subtype - - - - - - - - 93562 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93562 - AFib amyloidosis - - Clinical subtype - - - - - - - - 238269 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238269 - AApoAII amyloidosis - - Clinical subtype - - - - - - - - - - 444092 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444092 - Autoimmune interstitial lung disease-arthritis syndrome - - Disease - - - - - - - - 36412 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36412 - Hypocomplementemic urticarial vasculitis - - Disease - - - - - - - - - - 567562 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=567562 - Disorder with multisystemic involvement and glomerulopathy - - Category - - - - - - 1830 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1830 - Schimke immuno-osseous dysplasia - - Disease - - - - - - - - 506334 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=506334 - Familial steroid-resistant nephrotic syndrome with adrenal insufficiency - - Disease - - - - - - - - 163696 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163696 - Action myoclonus-renal failure syndrome - - Disease - - - - - - - - 347 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=347 - Frasier syndrome - - Disease - - - - - - - - 69735 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69735 - Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome - - Disease - - - - - - - - 2613 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2613 - Nail-patella-like renal disease - - Disease - - - - - - - - 220 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220 - Denys-Drash syndrome - - Disease - - - - - - - - 2614 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2614 - Nail-patella syndrome - - Malformation syndrome - - - - - - - - 2715 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2715 - Severe oculo-renal-cerebellar syndrome - - Malformation syndrome - - - - - - - - 69063 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69063 - Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization - - Disease - - - - - - - - 93114 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93114 - Autosomal dominant intermediate Charcot-Marie-Tooth disease type E - - Disease - - - - - - - - 182050 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=182050 - MYH9-related syndromic thrombocytopenia - - Disease - - - - - - - - 280406 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280406 - Familial steroid-resistant nephrotic syndrome with sensorineural deafness - - Disease - - - - - - - - 300333 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300333 - Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome - - Disease - - - - - - - - 306504 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306504 - Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome - - Disease - - - - - - - - 2065 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2065 - Galloway-Mowat syndrome - - Malformation syndrome - - - - - - - - 2670 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2670 - Pierson syndrome - - Malformation syndrome - - - - - - - - - - 84090 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=84090 - Fibronectin glomerulopathy - - Disease - - - - - - - - 329481 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329481 - Lipoprotein glomerulopathy - - Disease - - - - - - - - 54370 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=54370 - Primary membranoproliferative glomerulonephritis - - Disease - - - - - - 329903 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329903 - Immunoglobulin-mediated membranoproliferative glomerulonephritis - - Clinical subtype - - - - - - - - 329918 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329918 - C3 glomerulopathy - - Clinical subtype - - - - - - 93571 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93571 - Dense deposit disease - - Histopathological subtype - - - - - - - - 329931 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329931 - C3 glomerulonephritis - - Histopathological subtype - - - - - - - - - - - - 544590 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=544590 - Collagen-related glomerular basement membrane disease - - Category - - - - - - 63 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=63 - Alport syndrome - - Disease - - - - - - 88917 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88917 - X-linked Alport syndrome - - Clinical subtype - - - - - - - - 88918 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88918 - Autosomal dominant Alport syndrome - - Clinical subtype - - - - - - - - 88919 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88919 - Autosomal recessive Alport syndrome - - Clinical subtype - - - - - - - - 1018 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1018 - X-linked Alport syndrome-diffuse leiomyomatosis - - Clinical subtype - - - - - - - - 653722 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=653722 - Digenic Alport syndrome - - Clinical subtype - - - - - - - - - - 73229 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73229 - HANAC syndrome - - Disease - - - - - - - - - - 564127 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=564127 - Genetic nephrotic syndrome - - Clinical group - - - - - - 839 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=839 - Congenital nephrotic syndrome, Finnish type - - Disease - - - - - - - - 656 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=656 - Hereditary steroid-resistant nephrotic syndrome - - Disease - - - - - - - - - - - - 183589 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183589 - Genetic thrombotic microangiopathy - - Category - - - - - - 93583 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93583 - Congenital thrombotic thrombocytopenic purpura - - Clinical subtype - - - - - - - - 576742 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=576742 - Genetic hemolytic uremic syndrome - - Category - - - - - - 2134 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2134 - Atypical hemolytic uremic syndrome - - Disease - - - - - - 544472 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=544472 - Atypical hemolytic uremic syndrome with complement gene abnormality - - Etiological subtype - - - - - - - - 93581 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93581 - Atypical hemolytic uremic syndrome with anti-factor H antibodies - - Etiological subtype - - - - - - - - - - 79282 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79282 - Methylmalonic acidemia with homocystinuria, type cblC - - Clinical subtype - - - - - - - - 357008 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357008 - Hemolytic uremic syndrome with DGKE deficiency - - Disease - - - - - - - - - - - - 183592 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183592 - Genetic renal tubular disease - - Category - - - - - - 544628 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=544628 - Atypical Fanconi syndrome-neonatal hyperinsulinism syndrome - - Disease - - - - - - - - 528105 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=528105 - Hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome - - Disease - - - - - - - - 306516 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306516 - Primary hypomagnesemia with hypercalciuria and nephrocalcinosis - - Disease - - - - - - 2196 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2196 - Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement - - Clinical subtype - - - - - - - - 31043 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=31043 - Primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement - - Clinical subtype - - - - - - - - - - 30924 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=30924 - Primary hypomagnesemia with secondary hypocalcemia - - Disease - - - - - - - - 534 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=534 - Oculocerebrorenal syndrome of Lowe - - Malformation syndrome - - - - - - - - 437 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=437 - Hypophosphatemic rickets - - Clinical group - - - - - - 1652 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1652 - Dent disease - - Disease - - - - - - 93622 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93622 - Dent disease type 1 - - Clinical subtype - - - - - - - - 93623 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93623 - Dent disease type 2 - - Clinical subtype - - - - - - - - - - 213 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213 - Cystinosis - - Disease - - - - - - 411629 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411629 - Infantile nephropathic cystinosis - - Clinical subtype - - - - - - - - 411634 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411634 - Juvenile nephropathic cystinosis - - Clinical subtype - - - - - - - - 411641 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411641 - Ocular cystinosis - - Clinical subtype - - - - - - - - - - 244305 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=244305 - Dominant hypophosphatemia with nephrolithiasis or osteoporosis - - Disease - - - - - - - - 89936 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=89936 - X-linked hypophosphatemia - - Disease - - - - - - - - 89937 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=89937 - Autosomal dominant hypophosphatemic rickets - - Disease - - - - - - - - 157215 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157215 - Hereditary hypophosphatemic rickets with hypercalciuria - - Disease - - - - - - - - 289176 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289176 - Autosomal recessive hypophosphatemic rickets - - Disease - - - - - - - - - - 214 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=214 - Cystinuria - - Disease - - - - - - 93612 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93612 - Cystinuria type A - - Etiological subtype - - - - - - - - 93613 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93613 - Cystinuria type B - - Etiological subtype - - - - - - - - - - 112 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=112 - Bartter syndrome - - Disease - - - - - - 89938 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=89938 - Bartter syndrome type 4 - - Clinical subtype - - - - - - - - 93605 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93605 - Bartter syndrome type 3 - - Clinical subtype - - - - - - - - 570371 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=570371 - Bartter syndrome type 5 - - Clinical subtype - - - - - - - - 620217 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=620217 - Bartter syndrome type 1 - - Clinical subtype - - - - - - - - 620220 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=620220 - Bartter syndrome type 2 - - Clinical subtype - - - - - - - - - - 358 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=358 - Gitelman syndrome - - Disease - - - - - - - - 3145 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3145 - Arginine vasopressin resistance-intracranial calcification-short stature-facial dysmorphism syndrome - - Disease - - - - - - - - 2197 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2197 - Idiopathic hypercalciuria - - Disease - - - - - - - - 223 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=223 - Arginine vasopressin resistance - - Disease - - - - - - - - 3337 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3337 - Primary Fanconi renotubular syndrome - - Disease - - - - - - - - 756 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=756 - Pseudohypoaldosteronism type 1 - - Disease - - - - - - 171871 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171871 - Renal pseudohypoaldosteronism type 1 - - Clinical subtype - - - - - - - - 171876 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171876 - Generalized pseudohypoaldosteronism type 1 - - Clinical subtype - - - - - - - - - - 34528 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=34528 - Autosomal dominant primary hypomagnesemia with hypocalciuria - - Disease - - - - - - - - 93606 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93606 - Nephrogenic syndrome of inappropriate antidiuresis - - Disease - - - - - - - - 94088 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94088 - Hereditary renal hypouricemia - - Malformation syndrome - - - - - - - - 97593 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97593 - Pseudohypoparathyroidism - - Category - - - - - - 457062 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457062 - Pseudohypoparathyroidism without Albright hereditary osteodystrophy - - Clinical group - - - - - - 94089 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94089 - Pseudohypoparathyroidism type 1B - - Disease - - - - - - - - 94090 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94090 - Pseudohypoparathyroidism type 2 - - Disease - - - - - - - - - - 457059 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457059 - Pseudohypoparathyroidism with Albright hereditary osteodystrophy - - Clinical group - - - - - - 79443 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79443 - Pseudohypoparathyroidism type 1A - - Disease - - - - - - - - 79444 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79444 - Pseudohypoparathyroidism type 1C - - Disease - - - - - - - - 79445 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79445 - Pseudopseudohypoparathyroidism - - Disease - - - - - - - - - - - - 199343 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199343 - EAST syndrome - - Disease - - - - - - - - 34149 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=34149 - Autosomal dominant tubulointerstitial kidney disease - - Disease - - - - - - 88949 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88949 - MUC1-related autosomal dominant tubulointerstitial kidney disease - - Clinical subtype - - - - - - - - 88950 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88950 - UMOD-related autosomal dominant tubulointerstitial kidney disease - - Clinical subtype - - - - - - - - 93111 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93111 - HNF1B-related autosomal dominant tubulointerstitial kidney disease - - Clinical subtype - - - - - - - - 217330 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217330 - REN-related autosomal dominant tubulointerstitial kidney disease - - Clinical subtype - - - - - - - - - - 238517 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238517 - Hypotonia-cystinuria type 1 syndrome - - Clinical group - - - - - - 163690 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163690 - Hypotonia-cystinuria syndrome - - Disease - - - - - - - - 163693 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163693 - 2p21 microdeletion syndrome - - Disease - - - - - - - - 238523 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238523 - Atypical hypotonia-cystinuria syndrome - - Disease - - - - - - - - - - 314822 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314822 - Primary renal tubular acidosis - - Clinical group - - - - - - 2785 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2785 - Osteopetrosis with renal tubular acidosis - - Disease - - - - - - - - 3240 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3240 - Early-onset progressive leukoencephalopathy-central nervous system calcification-deafness-visual impairment syndrome - - Disease - - - - - - - - 18 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=18 - Distal renal tubular acidosis - - Disease - - - - - - 93608 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93608 - Autosomal dominant distal renal tubular acidosis - - Clinical subtype - - - - - - - - 93610 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93610 - Distal renal tubular acidosis with anemia - - Clinical subtype - - - - - - - - 402041 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=402041 - Autosomal recessive distal renal tubular acidosis - - Clinical subtype - - - - - - - - - - 47159 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=47159 - Proximal renal tubular acidosis - - Disease - - - - - - 93607 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93607 - Autosomal recessive proximal renal tubular acidosis - - Clinical subtype - - - - - - - - 314889 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314889 - Autosomal dominant proximal renal tubular acidosis - - Clinical subtype - - - - - - - - - - - - 363534 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363534 - Mitochondrial DNA depletion syndrome, hepatocerebrorenal form - - Disease - - - - - - - - 363694 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363694 - Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome - - Disease - - - - - - - - 505242 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=505242 - Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome - - Disease - - - - - - - - 73224 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73224 - Kidney tubulopathy-dilated cardiomyopathy syndrome - - Disease - - - - - - - - 324525 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324525 - Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation - - Disease - - - - - - - - 199326 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199326 - Isolated autosomal dominant hypomagnesemia, Glaudemans type - - Disease - - - - - - - - 64 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64 - Alström syndrome - - Disease - - - - - - - - 474 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=474 - Jeune syndrome - - Malformation syndrome - - - - - - - - 1380 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1380 - Cataract-nephropathy-encephalopathy syndrome - - Malformation syndrome - - - - - - - - 688581 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=688581 - Midface hypoplasia-hearing impairment-elliptocytosis-nephrocalcinosis syndrome - - Malformation syndrome - - - - - - - - 564178 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=564178 - Primary hypomagnesemia-refractory seizures-intellectual disability syndrome - - Disease - - - - - - - - 620363 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=620363 - Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome - - Disease - - - - - - - - 620368 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=620368 - EGF-related primary hypomagnesemia with intellectual disability - - Disease - - - - - - - - 620371 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=620371 - Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation - - Disease - - - - - - - - - - - - 100974 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100974 - FRAXF syndrome - - Disease - - - - - - - - 101435 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101435 - Rare genetic eye disease - - Category - - - - - - 522504 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=522504 - Rare genetic disorder of the visual organs - - Category - - - - - - 522536 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=522536 - Structural developmental eye defect of genetic origin - - Category - - - - - - 659904 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=659904 - Multiple congenital anomalies-neurodevelopmental delay-ocular abnormalities syndrome - - Malformation syndrome - - - - - - - - 2484 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2484 - Melnick-Needles syndrome - - Malformation syndrome - - - - - - - - 98555 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98555 - Microphthalmia-anophthalmia-coloboma - - Category - - - - - - 2542 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2542 - Isolated microphthalmia-anophthalmia-coloboma - - Clinical group - - - - - - 35612 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35612 - Nanophthalmos - - Malformation syndrome - - - - - - - - 98938 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98938 - Colobomatous microphthalmia - - Malformation syndrome - - - - - - - - - - 202948 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=202948 - Syndromic microphthalmia-anophthalmia-coloboma - - Category - - - - - - 1466 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1466 - COFS syndrome - - Clinical subtype - - - - - - - - 1806 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1806 - Ectodermal dysplasia-blindness syndrome - - Malformation syndrome - - - - - - - - 251279 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251279 - Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome - - Disease - - - - - - - - 1106 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1106 - Microphthalmia with limb anomalies - - Malformation syndrome - - - - - - - - 2547 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2547 - Microphthalmia-microtia-fetal akinesia syndrome - - Malformation syndrome - - - - - - - - 568 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=568 - Microphthalmia, Lenz type - - Malformation syndrome - - - - - - - - 2470 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2470 - Matthew-Wood syndrome - - Malformation syndrome - - - - - - - - 2510 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2510 - Micro syndrome - - Malformation syndrome - - - - - - - - 2556 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2556 - Microphthalmia with linear skin defects syndrome - - Malformation syndrome - - - - - - - - 2712 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2712 - Oculofaciocardiodental syndrome - - Malformation syndrome - - - - - - - - 3434 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3434 - MMEP syndrome - - Malformation syndrome - - - - - - - - 77298 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77298 - Anophthalmia/microphthalmia-esophageal atresia syndrome - - Malformation syndrome - - - - - - - - 77299 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77299 - Microphthalmia-brain atrophy syndrome - - Malformation syndrome - - - - - - - - 85275 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85275 - Microphthalmia-ankyloblepharon-intellectual disability syndrome - - Malformation syndrome - - - - - - - - 139471 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139471 - Microphthalmia with brain and digit anomalies - - Malformation syndrome - - - - - - - - 178364 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178364 - Syndromic microphthalmia type 5 - - Malformation syndrome - - - - - - - - 363741 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363741 - Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome - - Disease - - - - - - - - 424099 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424099 - Colobomatous microphthalmia-rhizomelic dysplasia syndrome - - Malformation syndrome - - - - - - - - 431140 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=431140 - X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome - - Malformation syndrome - - - - - - - - 1647 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1647 - Oculocerebrocutaneous syndrome - - Malformation syndrome - - - - - - - - 157962 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157962 - Oculoauricular syndrome, Schorderet type - - Malformation syndrome - - - - - - - - 611201 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=611201 - Oculogastrointestinal-neurodevelopmental syndrome - - Malformation syndrome - - - - - - - - 689829 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=689829 - Microphthalmia-motor delay-language delay-brain anomalies-diaphragmatic hernia syndrome - - Disease - - - - - - - - 603494 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=603494 - Coloboma-osteopetrosis-microphthalmia-macrocephaly-albinism-deafness syndrome - - Malformation syndrome - - - - - - - - 2432 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2432 - Macrosomia-microphthalmia-cleft palate syndrome - - Malformation syndrome - - - - - - - - - - - - 363396 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363396 - High myopia-sensorineural deafness syndrome - - Disease - - - - - - - - 468672 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=468672 - Colobomatous macrophthalmia-microcornea syndrome - - Disease - - - - - - - - - - 522538 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=522538 - Rare genetic disorder of the anterior segment of the eye - - Category - - - - - - 522556 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=522556 - Rare genetic corneal disorder - - Category - - - - - - 53691 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53691 - Congenital cornea plana - - Morphological anomaly - - - - - - - - 98635 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98635 - Corneodysgenesis - - Category - - - - - - 91489 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91489 - Isolated congenital megalocornea - - Morphological anomaly - - - - - - - - 91490 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91490 - Isolated congenital sclerocornea - - Morphological anomaly - - - - - - - - - - 522558 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=522558 - Rare genetic disorder with corneal involvement as a major feature - - Category - - - - - - 1896 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1896 - EEC syndrome - - Malformation syndrome - - - - - - - - 2479 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2479 - Megalocornea-intellectual disability syndrome - - Malformation syndrome - - - - - - - - 257 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=257 - Epidermolysis bullosa simplex with muscular dystrophy - - Disease - - - - - - - - 28378 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=28378 - Tyrosinemia type 2 - - Disease - - - - - - - - 522560 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=522560 - Genetic corneal dystrophy - - Category - - - - - - 522562 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=522562 - Genetic superficial corneal dystrophy - - Category - - - - - - 98959 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98959 - Subepithelial mucinous corneal dystrophy - - Disease - - - - - - - - 98961 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98961 - Reis-Bücklers corneal dystrophy - - Disease - - - - - - - - 293375 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293375 - Grayson-Wilbrandt corneal dystrophy - - Disease - - - - - - - - 98954 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98954 - Meesmann corneal dystrophy - - Disease - - - - - - - - 98955 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98955 - Lisch epithelial corneal dystrophy - - Disease - - - - - - - - 98956 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98956 - Epithelial basement membrane dystrophy - - Disease - - - - - - - - 98957 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98957 - Gelatinous drop-like corneal dystrophy - - Disease - - - - - - - - 98960 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98960 - Thiel-Behnke corneal dystrophy - - Disease - - - - - - - - 293381 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293381 - Epithelial recurrent erosion dystrophy - - Disease - - - - - - - - 352657 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352657 - Hereditary benign intraepithelial dyskeratosis - - Disease - - - - - - - - 352662 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352662 - Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome - - Disease - - - - - - - - - - 98626 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98626 - Stromal corneal dystrophy - - Category - - - - - - 98972 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98972 - Central cloudy dystrophy of François - - Disease - - - - - - - - 98962 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98962 - Granular corneal dystrophy type I - - Disease - - - - - - - - 98963 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98963 - Granular corneal dystrophy type II - - Disease - - - - - - - - 98964 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98964 - Lattice corneal dystrophy type I - - Disease - - - - - - - - 98967 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98967 - Schnyder corneal dystrophy - - Disease - - - - - - - - 98969 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98969 - Macular corneal dystrophy - - Disease - - - - - - - - 98970 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98970 - Fleck corneal dystrophy - - Disease - - - - - - - - 98971 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98971 - Posterior amorphous corneal dystrophy - - Disease - - - - - - - - 101068 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101068 - Congenital stromal corneal dystrophy - - Disease - - - - - - - - 293462 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293462 - Pre-Descemet corneal dystrophy - - Disease - - - - - - - - - - 98627 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98627 - Posterior corneal dystrophy - - Category - - - - - - 98973 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98973 - Posterior polymorphous corneal dystrophy - - Disease - - - - - - - - 98974 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98974 - Fuchs endothelial corneal dystrophy - - Disease - - - - - - - - 293603 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293603 - Congenital hereditary endothelial dystrophy type II - - Disease - - - - - - - - 293621 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293621 - X-linked endothelial corneal dystrophy - - Disease - - - - - - - - - - 98628 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98628 - Syndromic corneal dystrophy - - Category - - - - - - 90354 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90354 - Brittle cornea syndrome - - Disease - - - - - - - - 411641 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411641 - Ocular cystinosis - - Clinical subtype - - - - - - - - 650 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=650 - LCAT deficiency - - Disease - - - - - - 79292 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79292 - Fish-eye disease - - Clinical subtype - - - - - - - - 79293 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79293 - Familial LCAT deficiency - - Clinical subtype - - - - - - - - - - 461 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=461 - Recessive X-linked ichthyosis - - Disease - - - - - - - - 1490 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1490 - Corneal dystrophy-perceptive deafness syndrome - - Malformation syndrome - - - - - - - - 1661 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1661 - X-linked corneal dermoid - - Disease - - - - - - - - 2557 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2557 - Mietens syndrome - - Malformation syndrome - - - - - - - - 2572 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2572 - Spastic ataxia-corneal dystrophy syndrome - - Disease - - - - - - - - 2709 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2709 - Oculodental syndrome, Rutherfurd type - - Malformation syndrome - - - - - - - - 2741 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2741 - Ophthalmomandibulomelic dysplasia - - Malformation syndrome - - - - - - - - 2962 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2962 - De Barsy syndrome - - Disease - - - - - - 35664 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35664 - ALDH18A1-related De Barsy syndrome - - Etiological subtype - - - - - - - - 293633 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293633 - PYCR1-related De Barsy syndrome - - Etiological subtype - - - - - - - - - - 3177 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3177 - Spinocerebellar degeneration-corneal dystrophy syndrome - - Malformation syndrome - - - - - - - - 3194 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3194 - Corneodermatoosseous syndrome - - Malformation syndrome - - - - - - - - 79149 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79149 - Dermochondrocorneal dystrophy - - Disease - - - - - - - - 85448 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85448 - AGel amyloidosis - - Disease - - - - - - - - 85453 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85453 - X-linked reticulate pigmentary disorder - - Disease - - - - - - - - 495875 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=495875 - Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome - - Malformation syndrome - - - - - - - - 589435 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589435 - Spondylometaphyseal dysplasia-corneal dystrophy syndrome - - Malformation syndrome - - - - - - - - - - - - 79404 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79404 - Severe generalized junctional epidermolysis bullosa - - Disease - - - - - - - - 79408 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79408 - Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form - - Disease - - - - - - - - 89842 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=89842 - Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form - - Disease - - - - - - - - 522564 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=522564 - Syndromic genetic keratoconus - - Category - - - - - - 558 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=558 - Marfan syndrome - - Disease - - - - - - 284963 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284963 - Marfan syndrome type 1 - - Clinical subtype - - - - - - - - 284973 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284973 - Marfan syndrome type 2 - - Clinical subtype - - - - - - - - - - 870 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=870 - Down syndrome - - Malformation syndrome - - - - - - - - 2067 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2067 - GAPO syndrome - - Malformation syndrome - - - - - - - - 293936 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293936 - EDICT syndrome - - Disease - - - - - - - - - - 522566 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=522566 - Rare genetic inflammatory/autoimmune corneal disorder - - Category - - - - - - 477 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477 - KID syndrome - - Disease - - - - - - - - 2334 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2334 - Autosomal dominant keratitis - - Disease - - - - - - - - - - - - - - 522568 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=522568 - Rare genetic disorder of the pupil - - Category - - - - - - 534 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=534 - Oculocerebrorenal syndrome of Lowe - - Malformation syndrome - - - - - - - - 236 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=236 - Trisomy 9p syndrome - - Malformation syndrome - - - - - - - - 773 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=773 - Refsum disease - - Disease - - - - - - - - 1764 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1764 - Familial dysautonomia - - Disease - - - - - - - - 3204 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3204 - Stormorken-Sjaastad-Langslet syndrome - - Disease - - - - - - - - 1422 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1422 - Chondrodysplasia-difference of sex development syndrome - - Malformation syndrome - - - - - - - - 1067 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1067 - Aniridia-ptosis-intellectual disability-familial obesity syndrome - - Malformation syndrome - - - - - - - - 1182 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1182 - Spastic ataxia with congenital miosis - - Disease - - - - - - - - 1661 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1661 - X-linked corneal dermoid - - Disease - - - - - - - - 2788 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2788 - Osteoporosis-pseudoglioma syndrome - - Disease - - - - - - - - 2969 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2969 - Proteus-like syndrome - - Clinical subtype - - - - - - - - 2999 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2999 - Ptosis-strabismus-ectopic pupils syndrome - - Malformation syndrome - - - - - - - - 2151 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2151 - Hirschsprung disease-ganglioneuroblastoma syndrome - - Malformation syndrome - - - - - - - - 1884 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1884 - Ectopia lentis-chorioretinal dystrophy-myopia syndrome - - Disease - - - - - - - - 91413 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91413 - Congenital Horner syndrome - - Disease - - - - - - - - 3163 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3163 - SHORT syndrome - - Malformation syndrome - - - - - - - - 3374 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3374 - Unilateral ocular duplication - - Morphological anomaly - - - - - - - - 404463 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404463 - Multisystemic smooth muscle dysfunction syndrome - - Disease - - - - - - - - - - 183607 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183607 - Genetic lens and zonula anomaly - - Category - - - - - - 98655 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98655 - Lens shape anomaly - - Category - - - - - - 138 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=138 - CHARGE syndrome - - Malformation syndrome - - - - - - - - 783 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=783 - Rubinstein-Taybi syndrome - - Malformation syndrome - - - - - - 353277 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353277 - Rubinstein-Taybi syndrome due to CREBBP mutations - - Etiological subtype - - - - - - - - 353281 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353281 - Rubinstein-Taybi syndrome due to 16p13.3 microdeletion - - Etiological subtype - - - - - - - - 353284 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353284 - Rubinstein-Taybi syndrome due to EP300 haploinsufficiency - - Etiological subtype - - - - - - - - - - 564 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=564 - Meckel syndrome - - Malformation syndrome - - - - - - - - 568 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=568 - Microphthalmia, Lenz type - - Malformation syndrome - - - - - - - - 63 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=63 - Alport syndrome - - Disease - - - - - - 88917 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88917 - X-linked Alport syndrome - - Clinical subtype - - - - - - - - 88918 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88918 - Autosomal dominant Alport syndrome - - Clinical subtype - - - - - - - - 88919 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88919 - Autosomal recessive Alport syndrome - - Clinical subtype - - - - - - - - 1018 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1018 - X-linked Alport syndrome-diffuse leiomyomatosis - - Clinical subtype - - - - - - - - 653722 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=653722 - Digenic Alport syndrome - - Clinical subtype - - - - - - - - - - 2092 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2092 - Focal dermal hypoplasia - - Malformation syndrome - - - - - - - - - - 83461 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83461 - Congenital primary aphakia - - Malformation syndrome - - - - - - - - 522546 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=522546 - Rare genetic disorder with lens opacification - - Category - - - - - - 91492 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91492 - Early onset non-syndromic cataract - - Disease - - - - - - 98992 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98992 - Early-onset partial cataract - - Clinical subtype - - - - - - 98984 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98984 - Pulverulent cataract - - Clinical subtype - - - - - - - - 98988 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98988 - Early-onset anterior polar cataract - - Clinical subtype - - - - - - - - 98989 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98989 - Cerulean cataract - - Clinical subtype - - - - - - - - 98990 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98990 - Coralliform cataract - - Clinical subtype - - - - - - - - 98993 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98993 - Early-onset posterior polar cataract - - Clinical subtype - - - - - - - - 98995 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98995 - Early-onset zonular cataract - - Clinical subtype - - - - - - 98985 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98985 - Early-onset sutural cataract - - Clinical subtype - - - - - - - - 98991 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98991 - Early-onset nuclear cataract - - Clinical subtype - - - - - - - - 441452 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=441452 - Early-onset lamellar cataract - - Clinical subtype - - - - - - - - - - 441447 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=441447 - Early-onset posterior subcapsular cataract - - Clinical subtype - - - - - - - - - - 98994 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98994 - Total early-onset cataract - - Clinical subtype - - - - - - - - - - 522548 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=522548 - Syndromic genetic cataract - - Category - - - - - - 189 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=189 - Hidrotic ectodermal dysplasia - - Disease - - - - - - - - 974 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=974 - Adams-Oliver syndrome - - Malformation syndrome - - - - - - - - 64 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64 - Alström syndrome - - Disease - - - - - - - - 1068 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1068 - Aniridia-intellectual disability syndrome - - Malformation syndrome - - - - - - - - 1170 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1170 - Autosomal recessive cerebelloparenchymal disorder type 3 - - Disease - - - - - - - - 1239 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1239 - Behr syndrome - - Malformation syndrome - - - - - - - - 1264 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1264 - Tricho-retino-dento-digital syndrome - - Malformation syndrome - - - - - - - - 1345 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1345 - Cardiomyopathy-cataract-hip spine disease syndrome - - Disease - - - - - - - - 1366 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1366 - Autosomal recessive palmoplantar keratoderma and congenital alopecia - - Disease - - - - - - - - 1368 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1368 - Cataract-ataxia-deafness syndrome - - Disease - - - - - - - - 3173 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3173 - Infantile spasms-broad thumbs syndrome - - Disease - - - - - - - - 3137 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3137 - Alpha-N-acetylgalactosaminidase deficiency - - Disease - - - - - - 79279 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79279 - Alpha-N-acetylgalactosaminidase deficiency type 1 - - Clinical subtype - - - - - - - - 79280 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79280 - Alpha-N-acetylgalactosaminidase deficiency type 2 - - Clinical subtype - - - - - - - - 79281 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79281 - Alpha-N-acetylgalactosaminidase deficiency type 3 - - Clinical subtype - - - - - - - - - - 902 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=902 - Werner syndrome - - Disease - - - - - - - - 2674 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2674 - Cyprus facial-neuromusculoskeletal syndrome - - Malformation syndrome - - - - - - - - 2710 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2710 - Oculodentodigital dysplasia - - Malformation syndrome - - - - - - - - 2712 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2712 - Oculofaciocardiodental syndrome - - Malformation syndrome - - - - - - - - 2714 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2714 - Oculo-palato-cerebral syndrome - - Malformation syndrome - - - - - - - - 2719 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2719 - Oculocerebral hypopigmentation syndrome, Cross type - - Malformation syndrome - - - - - - - - 2788 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2788 - Osteoporosis-pseudoglioma syndrome - - Disease - - - - - - - - 2969 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2969 - Proteus-like syndrome - - Clinical subtype - - - - - - - - 3042 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3042 - Intellectual disability-cataracts-calcified pinnae-myopathy syndrome - - Malformation syndrome - - - - - - - - 3231 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3231 - Deafness-onychodystrophy syndrome - - Clinical group - - - - - - 79499 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79499 - Autosomal dominant deafness-onychodystrophy syndrome - - Malformation syndrome - - - - - - - - 79500 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79500 - DOORS syndrome - - Malformation syndrome - - - - - - - - - - 3233 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3233 - Cochleosaccular degeneration-cataract syndrome - - Malformation syndrome - - - - - - - - 3301 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3301 - Tetraamelia-multiple malformations syndrome - - Malformation syndrome - - - - - - - - 3433 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3433 - Microcephaly-brachydactyly-kyphoscoliosis syndrome - - Malformation syndrome - - - - - - - - 3453 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3453 - Autoimmune polyendocrinopathy type 1 - - Disease - - - - - - - - 3167 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3167 - Siegler-Brewer-Carey syndrome - - Malformation syndrome - - - - - - - - 1884 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1884 - Ectopia lentis-chorioretinal dystrophy-myopia syndrome - - Disease - - - - - - - - 1272 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1272 - Aymé-Gripp syndrome - - Malformation syndrome - - - - - - - - 1383 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1383 - Cataract-deafness-hypogonadism syndrome - - Malformation syndrome - - - - - - - - 65 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65 - Leber congenital amaurosis - - Disease - - - - - - - - 910 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=910 - Xeroderma pigmentosum - - Disease - - - - - - - - 317 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=317 - Erythrokeratodermia variabilis - - Disease - - - - - - - - 162 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=162 - Congenital cataract-anterior segment dysgenesis syndrome - - Malformation syndrome - - - - - - - - 33001 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33001 - Lymphedema-distichiasis syndrome - - Malformation syndrome - - - - - - - - 33364 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33364 - Trichothiodystrophy - - Disease - - - - - - - - 35125 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35125 - Epidermal nevus syndrome - - Disease - - - - - - - - 48431 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=48431 - Congenital cataracts-facial dysmorphism-neuropathy syndrome - - Malformation syndrome - - - - - - - - 50814 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50814 - Craniolenticulosutural dysplasia - - Malformation syndrome - - - - - - - - 50945 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50945 - Blomstrand lethal chondrodysplasia - - Malformation syndrome - - - - - - - - 79107 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79107 - Developmental malformations-deafness-dystonia syndrome - - Malformation syndrome - - - - - - - - 85163 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85163 - Hypomyelination-congenital cataract syndrome - - Malformation syndrome - - - - - - - - 85172 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85172 - Microcephalic osteodysplastic dysplasia, Saul-Wilson type - - Disease - - - - - - - - 85194 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85194 - Spondylo-ocular syndrome - - Malformation syndrome - - - - - - - - 85276 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85276 - X-linked intellectual disability, Armfield type - - Malformation syndrome - - - - - - - - 85321 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85321 - Deafness-intellectual disability syndrome, Martin-Probst type - - Malformation syndrome - - - - - - - - 90340 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90340 - Blau syndrome - - Disease - - - - - - - - 91495 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91495 - Persistent hyperplastic primary vitreous - - Disease - - - - - - - - 93267 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93267 - Cloverleaf skull-multiple congenital anomalies syndrome - - Malformation syndrome - - - - - - - - 98642 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98642 - Chromosomal anomaly with cataract - - Category - - - - - - 881 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=881 - Turner syndrome - - Malformation syndrome - - - - - - 99226 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99226 - Monosomy X syndrome - - Etiological subtype - - - - - - - - 99228 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99228 - Mosaic monosomy X syndrome - - Etiological subtype - - - - - - - - 99413 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99413 - Turner syndrome due to structural X chromosome anomalies - - Etiological subtype - - - - - - - - - - 1598 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1598 - Monosomy 18p syndrome - - Disease - - - - - - - - 574 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=574 - 21q deletion syndrome - - Malformation syndrome - - - - - - - - 96070 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96070 - Distal duplication 2p syndrome - - Malformation syndrome - - - - - - - - 870 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=870 - Down syndrome - - Malformation syndrome - - - - - - - - 281 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=281 - Monosomy 5p syndrome - - Malformation syndrome - - - - - - - - 3378 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3378 - Trisomy 13 syndrome - - Malformation syndrome - - - - - - - - 236 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=236 - Trisomy 9p syndrome - - Malformation syndrome - - - - - - - - 1695 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1695 - Non-distal duplication 10q syndrome - - Malformation syndrome - - - - - - - - 1052 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1052 - Mosaic variegated aneuploidy syndrome - - Malformation syndrome - - - - - - - - 3309 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3309 - Tetrasomy 5p syndrome - - Malformation syndrome - - - - - - - - 96095 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96095 - 3q26 microduplication syndrome - - Malformation syndrome - - - - - - - - 96168 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96168 - Monosomy 13q34 syndrome - - Malformation syndrome - - - - - - - - 280 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280 - Wolf-Hirschhorn syndrome - - Malformation syndrome - - - - - - - - 1600 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1600 - Monosomy 18q syndrome - - Malformation syndrome - - - - - - - - 3380 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3380 - Trisomy 18 syndrome - - Malformation syndrome - - - - - - - - 1587 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1587 - Monosomy 13q14 syndrome - - Malformation syndrome - - - - - - - - 1590 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1590 - Distal deletion 13q syndrome - - Malformation syndrome - - - - - - - - 1742 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1742 - Trisomy 5p syndrome - - Malformation syndrome - - - - - - - - 3376 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3376 - Triploidy syndrome - - Malformation syndrome - - - - - - - - 96102 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96102 - Distal duplication 10q syndrome - - Malformation syndrome - - - - - - - - 314585 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314585 - 15q overgrowth syndrome - - Malformation syndrome - - - - - - 1707 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1707 - Distal duplication 15q syndrome - - Etiological subtype - - - - - - - - 314588 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314588 - Distal triplication 15q syndrome - - Etiological subtype - - - - - - - - - - - - 98644 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98644 - Metabolic disease with cataract - - Category - - - - - - 61 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=61 - Alpha-mannosidosis - - Disease - - - - - - 309282 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309282 - Alpha-mannosidosis, infantile form - - Clinical subtype - - - - - - - - 309288 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309288 - Alpha-mannosidosis, adult form - - Clinical subtype - - - - - - - - - - 324 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324 - Fabry disease - - Disease - - - - - - - - 352 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352 - Galactosemia - - Category - - - - - - 79237 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79237 - Galactokinase deficiency - - Disease - - - - - - - - 79238 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79238 - Galactose epimerase deficiency - - Disease - - - - - - 308473 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308473 - Erythrocyte galactose epimerase deficiency - - Clinical subtype - - - - - - - - 308487 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308487 - Generalized galactose epimerase deficiency - - Clinical subtype - - - - - - - - - - 79239 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79239 - Classic galactosemia - - Disease - - - - - - - - 570422 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=570422 - Galactose mutarotase deficiency - - Disease - - - - - - - - - - 773 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=773 - Refsum disease - - Disease - - - - - - - - 2962 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2962 - De Barsy syndrome - - Disease - - - - - - 35664 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35664 - ALDH18A1-related De Barsy syndrome - - Etiological subtype - - - - - - - - 293633 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293633 - PYCR1-related De Barsy syndrome - - Etiological subtype - - - - - - - - - - 445038 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=445038 - 3-methylglutaconic aciduria-neonatal cataract-neurologic involvement-congenital neutropenia syndrome - - Disease - - - - - - - - 615938 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=615938 - Spastic paraparesis-cataracts-speech delay syndrome - - Clinical syndrome - - - - - - - - 14 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=14 - Abetalipoproteinemia - - Disease - - - - - - - - 414 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=414 - Gyrate atrophy of choroid and retina - - Disease - - - - - - - - 272 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=272 - Congenital muscular dystrophy, Fukuyama type - - Malformation syndrome - - - - - - - - 438178 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=438178 - Fatty acyl-CoA reductase 1 deficiency - - Disease - - - - - - - - 394 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=394 - Homocystinuria due to cystathionine beta-synthase deficiency - - Disease - - - - - - - - 29 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=29 - Mevalonic aciduria - - Clinical subtype - - - - - - - - 909 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=909 - Cerebrotendinous xanthomatosis - - Disease - - - - - - - - 709 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=709 - Peters plus syndrome - - Malformation syndrome - - - - - - - - 67048 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=67048 - 3-methylglutaconic aciduria type 4 - - Disease - - - - - - - - 98907 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98907 - Neutral lipid storage disease with ichthyosis - - Disease - - - - - - - - 585 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=585 - Multiple sulfatase deficiency - - Disease - - - - - - - - 44 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=44 - Neonatal adrenoleukodystrophy - - Disease - - - - - - - - 581 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=581 - Mucopolysaccharidosis type 3 - - Disease - - - - - - 79269 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79269 - Sanfilippo syndrome type A - - Etiological subtype - - - - - - - - 79270 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79270 - Sanfilippo syndrome type B - - Etiological subtype - - - - - - - - 79271 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79271 - Sanfilippo syndrome type C - - Etiological subtype - - - - - - - - 79272 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79272 - Sanfilippo syndrome type D - - Etiological subtype - - - - - - - - - - 588 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=588 - Muscle-eye-brain disease - - Malformation syndrome - - - - - - - - 46059 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=46059 - Lathosterolosis - - Disease - - - - - - - - 79281 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79281 - Alpha-N-acetylgalactosaminidase deficiency type 3 - - Clinical subtype - - - - - - - - 79325 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79325 - ALG8-CDG - - Disease - - - - - - - - 79326 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79326 - ALG2-CDG - - Disease - - - - - - - - - - 98646 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98646 - Renal disease with cataract - - Category - - - - - - 534 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=534 - Oculocerebrorenal syndrome of Lowe - - Malformation syndrome - - - - - - - - 63 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=63 - Alport syndrome - - Disease - - - - - - 88917 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88917 - X-linked Alport syndrome - - Clinical subtype - - - - - - - - 88918 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88918 - Autosomal dominant Alport syndrome - - Clinical subtype - - - - - - - - 88919 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88919 - Autosomal recessive Alport syndrome - - Clinical subtype - - - - - - - - 1018 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1018 - X-linked Alport syndrome-diffuse leiomyomatosis - - Clinical subtype - - - - - - - - 653722 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=653722 - Digenic Alport syndrome - - Clinical subtype - - - - - - - - - - - - 2720 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2720 - Oculocerebral hypopigmentation syndrome, Preus type - - Malformation syndrome - - - - - - - - 792 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=792 - X-linked retinoschisis - - Malformation syndrome - - - - - - - - 637 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=637 - Full NF2-related schwannomatosis - - Disease - - - - - - - - 649 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=649 - Norrie disease - - Malformation syndrome - - - - - - - - 800 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=800 - Schwartz-Jampel syndrome - - Disease - - - - - - - - 893 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=893 - WAGR syndrome - - Malformation syndrome - - - - - - - - 564 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=564 - Meckel syndrome - - Malformation syndrome - - - - - - - - 2772 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2772 - Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome - - Malformation syndrome - - - - - - - - 3085 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3085 - Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome - - Malformation syndrome - - - - - - - - 1369 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1369 - Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome - - Disease - - - - - - - - 2253 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2253 - Foveal hypoplasia-presenile cataract syndrome - - Disease - - - - - - - - 560 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=560 - Marshall syndrome - - Malformation syndrome - - - - - - - - 606 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=606 - Proximal myotonic myopathy - - Disease - - - - - - - - 821 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=821 - Sotos syndrome - - Disease - - - - - - - - 557003 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=557003 - Oculoskeletodental syndrome - - Disease - - - - - - - - 662184 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662184 - Congenital muscular dystrophy-cataract-intellectual disability syndrome - - Disease - - - - - - - - 478049 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=478049 - Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome - - Disease - - - - - - - - 488168 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488168 - Microcephaly-congenital cataract-psoriasiform dermatitis syndrome - - Malformation syndrome - - - - - - - - 500545 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500545 - Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract - - Disease - - - - - - - - 521432 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521432 - Congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome - - Disease - - - - - - - - 98648 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98648 - Musculoskeletal disease with cataract - - Category - - - - - - 273 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=273 - Steinert myotonic dystrophy - - Disease - - - - - - 589824 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589824 - Childhood-onset Steinert myotonic dystrophy - - Clinical subtype - - - - - - - - 589827 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589827 - Juvenile-onset Steinert myotonic dystrophy - - Clinical subtype - - - - - - - - 589830 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589830 - Adult-onset Steinert myotonic dystrophy - - Clinical subtype - - - - - - - - 589833 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589833 - Late-onset Steinert myotonic dystrophy - - Clinical subtype - - - - - - - - 589821 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589821 - Congenital-onset Steinert myotonic dystrophy - - Clinical subtype - - - - - - - - - - 3103 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3103 - Roberts syndrome - - Malformation syndrome - - - - - - - - 457059 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457059 - Pseudohypoparathyroidism with Albright hereditary osteodystrophy - - Clinical group - - - - - - 79443 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79443 - Pseudohypoparathyroidism type 1A - - Disease - - - - - - - - 79444 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79444 - Pseudohypoparathyroidism type 1C - - Disease - - - - - - - - 79445 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79445 - Pseudopseudohypoparathyroidism - - Disease - - - - - - - - - - 177 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=177 - Rhizomelic chondrodysplasia punctata - - Disease - - - - - - 309803 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309803 - Rhizomelic chondrodysplasia punctata type 3 - - Etiological subtype - - - - - - - - 309789 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309789 - Rhizomelic chondrodysplasia punctata type 1 - - Etiological subtype - - - - - - - - 309796 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309796 - Rhizomelic chondrodysplasia punctata type 2 - - Etiological subtype - - - - - - - - 468717 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=468717 - Rhizomelic chondrodysplasia punctata type 5 - - Etiological subtype - - - - - - - - - - 35173 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35173 - X-linked dominant chondrodysplasia punctata - - Disease - - - - - - - - 90653 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90653 - Stickler syndrome type 1 - - Clinical subtype - - - - - - - - 90654 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90654 - Stickler syndrome type 2 - - Clinical subtype - - - - - - - - - - 98649 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98649 - Dentocutaneous disease with cataract - - Category - - - - - - 1466 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1466 - COFS syndrome - - Clinical subtype - - - - - - - - 627 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=627 - Nance-Horan syndrome - - Malformation syndrome - - - - - - - - 2909 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2909 - Rothmund-Thomson syndrome - - Disease - - - - - - 221008 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221008 - Rothmund-Thomson syndrome type 1 - - Clinical subtype - - - - - - - - 221016 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221016 - Rothmund-Thomson syndrome type 2 - - Clinical subtype - - - - - - - - - - - - 98650 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98650 - Craniofacial anomaly with cataract - - Category - - - - - - 207 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=207 - Crouzon syndrome - - Malformation syndrome - - - - - - - - 912 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=912 - Zellweger syndrome - - Disease - - - - - - - - 2108 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2108 - Hallermann-Streiff syndrome - - Malformation syndrome - - - - - - - - 818 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=818 - Smith-Lemli-Opitz syndrome - - Malformation syndrome - - - - - - - - 2109 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2109 - Hallermann-Streiff-like syndrome - - Malformation syndrome - - - - - - - - 87 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=87 - Apert syndrome - - Malformation syndrome - - - - - - - - - - 139471 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139471 - Microphthalmia with brain and digit anomalies - - Malformation syndrome - - - - - - - - 163937 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163937 - X-linked intellectual disability, Najm type - - Disease - - - - - - - - 247794 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247794 - Juvenile cataract-microcornea-renal glucosuria syndrome - - Disease - - - - - - - - 250923 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=250923 - Isolated aniridia - - Morphological anomaly - - - - - - - - 263347 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263347 - MRCS syndrome - - Disease - - - - - - - - 289499 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289499 - Congenital cataract microcornea with corneal opacity - - Malformation syndrome - - - - - - - - 300313 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300313 - Congenital cataract-hearing loss-severe developmental delay syndrome - - Disease - - - - - - - - 314993 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314993 - Cataract-congenital heart disease-neural tube defect syndrome - - Malformation syndrome - - - - - - - - 330054 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=330054 - Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome - - Disease - - - - - - - - 436174 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436174 - Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome - - Disease - - - - - - - - 447753 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447753 - Autosomal dominant spastic paraplegia type 9A - - Disease - - - - - - - - 464738 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464738 - Basel-Vanagaite-Smirin-Yosef syndrome - - Malformation syndrome - - - - - - - - 1373 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1373 - Cataract-aberrant oral frenula-growth delay syndrome - - Malformation syndrome - - - - - - - - 163 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163 - Hereditary hyperferritinemia-cataract syndrome - - Disease - - - - - - - - 1375 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1375 - Cataract-hypertrichosis-intellectual disability syndrome - - Malformation syndrome - - - - - - - - 1377 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1377 - Cataract-microcornea syndrome - - Malformation syndrome - - - - - - - - 1380 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1380 - Cataract-nephropathy-encephalopathy syndrome - - Malformation syndrome - - - - - - - - 1381 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1381 - Cataract-intellectual disability-anal atresia-urinary defects syndrome - - Malformation syndrome - - - - - - - - 1387 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1387 - Cataract-intellectual disability-hypogonadism syndrome - - Malformation syndrome - - - - - - - - 1397 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1397 - Hydrocephaly-cerebellar agenesis syndrome - - Malformation syndrome - - - - - - - - 1458 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1458 - CODAS syndrome - - Malformation syndrome - - - - - - - - 1493 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1493 - Vici syndrome - - Malformation syndrome - - - - - - - - 1563 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1563 - Dahlberg-Borer-Newcomer syndrome - - Malformation syndrome - - - - - - - - 1839 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1839 - Hereditary mucoepithelial dysplasia - - Malformation syndrome - - - - - - - - 1875 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1875 - Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome - - Disease - - - - - - - - 2036 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2036 - Scalp-ear-nipple syndrome - - Malformation syndrome - - - - - - - - 2047 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2047 - Flynn-Aird syndrome - - Disease - - - - - - - - 2115 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2115 - Harrod syndrome - - Malformation syndrome - - - - - - - - 2238 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2238 - Familial isolated hypoparathyroidism - - Disease - - - - - - 2239 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2239 - Familial isolated hypoparathyroidism due to agenesis of parathyroid gland - - Clinical subtype - - - - - - - - 428 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=428 - Autosomal dominant hypocalcemia - - Clinical subtype - - - - - - - - 189466 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=189466 - Familial isolated hypoparathyroidism due to impaired PTH secretion - - Clinical subtype - - - - - - - - - - 2250 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2250 - Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome - - Disease - - - - - - - - 2278 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2278 - Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome - - Malformation syndrome - - - - - - - - 2310 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2310 - Absence deformity of leg-cataract syndrome - - Malformation syndrome - - - - - - - - 2410 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2410 - Hypergonadotropic hypogonadism-cataract syndrome - - Malformation syndrome - - - - - - - - 2457 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2457 - Mandibuloacral dysplasia - - Malformation syndrome - - - - - - 90153 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90153 - Mandibuloacral dysplasia with type A lipodystrophy - - Clinical subtype - - - - - - - - 90154 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90154 - Mandibuloacral dysplasia with type B lipodystrophy - - Clinical subtype - - - - - - - - - - 559 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=559 - Marinesco-Sjögren syndrome - - Disease - - - - - - - - 2489 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2489 - Upper limb defect-eye and ear abnormalities syndrome - - Malformation syndrome - - - - - - - - 2510 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2510 - Micro syndrome - - Malformation syndrome - - - - - - - - 2528 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2528 - Microcephaly-microcornea syndrome, Seemanova type - - Malformation syndrome - - - - - - - - 2551 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2551 - Microspherophakia-metaphyseal dysplasia syndrome - - Malformation syndrome - - - - - - - - 2572 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2572 - Spastic ataxia-corneal dystrophy syndrome - - Disease - - - - - - - - 2643 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2643 - Microcephalic primordial dwarfism, Toriello type - - Malformation syndrome - - - - - - - - 2663 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2663 - Nathalie syndrome - - Malformation syndrome - - - - - - - - - - - - 522550 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=522550 - Lens size anomaly of genetic origin - - Category - - - - - - 519294 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519294 - Syndromic microspherophakia - - Category - - - - - - 2551 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2551 - Microspherophakia-metaphyseal dysplasia syndrome - - Malformation syndrome - - - - - - - - 3086 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3086 - Autosomal dominant vitreoretinochoroidopathy - - Disease - - - - - - - - 3449 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3449 - Weill-Marchesani syndrome - - Malformation syndrome - - - - - - - - 85194 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85194 - Spondylo-ocular syndrome - - Malformation syndrome - - - - - - - - 363992 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363992 - Ichthyosis-short stature-brachydactyly-microspherophakia syndrome - - Disease - - - - - - - - 2084 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2084 - Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome - - Malformation syndrome - - - - - - - - - - - - 522552 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=522552 - Lens position anomaly of genetic origin - - Category - - - - - - 1885 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1885 - Isolated ectopia lentis - - Malformation syndrome - - - - - - - - 522554 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=522554 - Syndromic genetic ectopia lentis - - Category - - - - - - 558 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=558 - Marfan syndrome - - Disease - - - - - - 284963 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284963 - Marfan syndrome type 1 - - Clinical subtype - - - - - - - - 284973 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284973 - Marfan syndrome type 2 - - Clinical subtype - - - - - - - - - - 394 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=394 - Homocystinuria due to cystathionine beta-synthase deficiency - - Disease - - - - - - - - 833 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=833 - Encephalopathy due to sulfite oxidase deficiency - - Disease - - - - - - 99731 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99731 - Isolated sulfite oxidase deficiency - - Clinical subtype - - - - - - - - 99732 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99732 - Sulfite oxidase deficiency due to molybdenum cofactor deficiency - - Clinical subtype - - - - - - 308386 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308386 - Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A - - Etiological subtype - - - - - - - - 308393 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308393 - Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B - - Etiological subtype - - - - - - - - 308400 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308400 - Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C - - Etiological subtype - - - - - - - - - - - - 560 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=560 - Marshall syndrome - - Malformation syndrome - - - - - - - - 1068 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1068 - Aniridia-intellectual disability syndrome - - Malformation syndrome - - - - - - - - 1259 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1259 - Blepharoptosis-myopia-ectopia lentis syndrome - - Disease - - - - - - - - 2084 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2084 - Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome - - Malformation syndrome - - - - - - - - 2092 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2092 - Focal dermal hypoplasia - - Malformation syndrome - - - - - - - - 2325 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2325 - Epidermolysis bullosa simplex with anodontia/hypodontia - - Malformation syndrome - - - - - - - - 2551 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2551 - Microspherophakia-metaphyseal dysplasia syndrome - - Malformation syndrome - - - - - - - - 3449 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3449 - Weill-Marchesani syndrome - - Malformation syndrome - - - - - - - - 171844 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171844 - Blindness-scoliosis-arachnodactyly syndrome - - Malformation syndrome - - - - - - - - 412022 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=412022 - Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome - - Malformation syndrome - - - - - - - - - - - - 98943 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98943 - Coloboma of eye lens - - Morphological anomaly - - - - - - - - - - 522540 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=522540 - Anterior segment developmental anomaly of genetic origin - - Category - - - - - - 519276 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519276 - Anterior segment developmental abnormality with extraocular manifestations - - Category - - - - - - 96125 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96125 - Distal deletion 6p syndrome - - Malformation syndrome - - - - - - - - 98557 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98557 - Syndromic aniridia - - Category - - - - - - 893 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=893 - WAGR syndrome - - Malformation syndrome - - - - - - - - 1065 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1065 - Aniridia-cerebellar ataxia-intellectual disability syndrome - - Malformation syndrome - - - - - - - - 1064 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1064 - Aniridia-renal agenesis-psychomotor retardation syndrome - - Malformation syndrome - - - - - - - - 1069 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1069 - Aniridia-absent patella syndrome - - Malformation syndrome - - - - - - - - 1067 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1067 - Aniridia-ptosis-intellectual disability-familial obesity syndrome - - Malformation syndrome - - - - - - - - 1068 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1068 - Aniridia-intellectual disability syndrome - - Malformation syndrome - - - - - - - - - - 1473 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1473 - Uveal coloboma-cleft lip and palate-intellectual disability - - Malformation syndrome - - - - - - - - 2090 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2090 - GMS syndrome - - Malformation syndrome - - - - - - - - 2670 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2670 - Pierson syndrome - - Malformation syndrome - - - - - - - - 3163 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3163 - SHORT syndrome - - Malformation syndrome - - - - - - - - 782 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=782 - Axenfeld-Rieger syndrome - - Malformation syndrome - - - - - - - - 195 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=195 - Cat-eye syndrome - - Malformation syndrome - - - - - - - - 139450 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139450 - Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome - - Malformation syndrome - - - - - - - - 52 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52 - Alagille syndrome - - Malformation syndrome - - - - - - 261600 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261600 - Alagille syndrome due to 20p12 microdeletion - - Etiological subtype - - - - - - - - 261619 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261619 - Alagille syndrome due to a JAG1 point mutation - - Etiological subtype - - - - - - - - 261629 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261629 - Alagille syndrome due to a NOTCH2 point mutation - - Etiological subtype - - - - - - - - - - 709 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=709 - Peters plus syndrome - - Malformation syndrome - - - - - - - - 506307 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=506307 - Stromme syndrome - - Malformation syndrome - - - - - - - - 52055 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52055 - Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome - - Malformation syndrome - - - - - - - - 2321 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2321 - Jung syndrome - - Malformation syndrome - - - - - - - - - - 98634 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98634 - Anterior segment developmental anomaly without extraocular manifestations - - Category - - - - - - 69736 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69736 - Bilateral acute depigmentation of the iris - - Disease - - - - - - - - 98978 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98978 - Axenfeld anomaly - - Morphological anomaly - - - - - - - - 566 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=566 - Congenital microcoria - - Malformation syndrome - - - - - - - - 91483 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91483 - Rieger anomaly - - Morphological anomaly - - - - - - - - 708 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=708 - Peters anomaly - - Morphological anomaly - - - - - - - - 250923 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=250923 - Isolated aniridia - - Morphological anomaly - - - - - - - - 519388 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519388 - Autosomal recessive anterior segment dysgenesis - - Malformation syndrome - - - - - - - - 91491 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91491 - Congenital ectropion uveae - - Malformation syndrome - - - - - - - - 98944 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98944 - Coloboma of iris - - Morphological anomaly - - - - - - - - 488197 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488197 - Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome - - Disease - - - - - - - - - - - - 522542 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=522542 - Rare genetic disorder with conjunctival involvement as a major feature - - Category - - - - - - 2407 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2407 - Laryngo-onycho-cutaneous syndrome - - Disease - - - - - - - - 722 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=722 - Hypoplasminogenemia - - Disease - - - - - - - - - - 88632 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88632 - Anterior segment developmental anomaly - - Category - - - - - - - - - - 379 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=379 - Chronic granulomatous disease - - Disease - - - - - - - - 183616 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183616 - Genetic neuro-ophthalmological disease - - Category - - - - - - 522510 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=522510 - Rare genetic ophthalmic disorder with cranial nerve involvement - - Category - - - - - - 64686 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64686 - Tolosa-Hunt syndrome - - Disease - - - - - - - - 98685 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98685 - Rare oculomotor nerve disorder - - Category - - - - - - 440221 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=440221 - Congenital oculomotor nerve palsy - - Disease - - - - - - - - - - 231013 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231013 - Congenital trigeminal anesthesia - - Disease - - - - - - - - 397618 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397618 - Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome - - Disease - - - - - - - - 440233 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=440233 - Congenital abducens nerve palsy - - Disease - - - - - - - - 522512 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=522512 - Rare genetic optic nerve disorder - - Category - - - - - - 637064 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=637064 - Isolated optic nerve aplasia - - Morphological anomaly - - - - - - - - 98671 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98671 - Hereditary optic neuropathy - - Category - - - - - - 104 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=104 - Leber hereditary optic neuropathy - - Disease - - - - - - - - 98672 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98672 - Autosomal dominant optic atrophy - - Clinical group - - - - - - 1215 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1215 - Autosomal dominant optic atrophy plus syndrome - - Disease - - - - - - - - 67036 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=67036 - Autosomal dominant optic atrophy and cataract - - Disease - - - - - - - - 98673 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98673 - Autosomal dominant optic atrophy, classic form - - Disease - - - - - - - - 250932 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=250932 - Autosomal dominant optic atrophy and peripheral neuropathy - - Disease - - - - - - - - - - 98676 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98676 - Autosomal recessive isolated optic atrophy - - Disease - - - - - - - - 99718 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99718 - Leber plus disease - - Disease - - - - - - - - 441434 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=441434 - Syndromic hereditary optic neuropathy - - Category - - - - - - 512 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=512 - Metachromatic leukodystrophy - - Disease - - - - - - 309256 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309256 - Metachromatic leukodystrophy, late infantile form - - Clinical subtype - - - - - - - - 309263 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309263 - Metachromatic leukodystrophy, juvenile form - - Clinical subtype - - - - - - - - 309271 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309271 - Metachromatic leukodystrophy, adult form - - Clinical subtype - - - - - - - - - - 3157 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3157 - Septo-optic dysplasia spectrum - - Malformation syndrome - - - - - - - - 551 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=551 - MERRF - - Disease - - - - - - - - 521426 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521426 - PLAA-associated neurodevelopmental disorder - - Malformation syndrome - - - - - - - - 482606 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=482606 - X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome - - Malformation syndrome - - - - - - - - 487 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=487 - Krabbe disease - - Disease - - - - - - 206443 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206443 - Late-infantile/juvenile Krabbe disease - - Clinical subtype - - - - - - - - 206448 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206448 - Adult Krabbe disease - - Clinical subtype - - - - - - - - 206436 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206436 - Infantile Krabbe disease - - Clinical subtype - - - - - - - - - - 97249 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97249 - Pontocerebellar hypoplasia type 3 - - Malformation syndrome - - - - - - - - 313850 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313850 - Infantile cerebellar-retinal degeneration - - Disease - - - - - - - - 702 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=702 - Pelizaeus-Merzbacher disease - - Disease - - - - - - 280210 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280210 - Pelizaeus-Merzbacher disease, connatal form - - Clinical subtype - - - - - - - - 280219 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280219 - Pelizaeus-Merzbacher disease, classic form - - Clinical subtype - - - - - - - - 280224 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280224 - Pelizaeus-Merzbacher disease, transitional form - - Clinical subtype - - - - - - - - 280229 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280229 - Pelizaeus-Merzbacher disease in female carriers - - Clinical subtype - - - - - - - - 280234 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280234 - Null syndrome - - Clinical subtype - - - - - - - - - - 3463 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3463 - Wolfram syndrome - - Disease - - - - - - - - 2067 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2067 - GAPO syndrome - - Malformation syndrome - - - - - - - - 2836 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2836 - PEHO syndrome - - Disease - - - - - - - - 3078 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3078 - Severe X-linked intellectual disability, Gustavson type - - Malformation syndrome - - - - - - - - 1171 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1171 - Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome - - Disease - - - - - - - - 52368 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52368 - Mohr-Tranebjaerg syndrome - - Disease - - - - - - - - 67047 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=67047 - 3-methylglutaconic aciduria type 3 - - Disease - - - - - - - - 83472 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83472 - CAMOS syndrome - - Malformation syndrome - - - - - - - - 98890 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98890 - Early-onset X-linked optic atrophy - - Disease - - - - - - - - 99013 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99013 - Spastic paraplegia type 7 - - Disease - - - - - - - - 99014 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99014 - X-linked Charcot-Marie-Tooth disease type 5 - - Disease - - - - - - - - 99015 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99015 - Spastic paraplegia type 2 - - Disease - - - - - - - - 289560 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289560 - Mitochondrial membrane protein-associated neurodegeneration - - Disease - - - - - - - - 329308 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329308 - Fatty acid hydroxylase-associated neurodegeneration - - Disease - - - - - - - - 352654 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352654 - Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome - - Disease - - - - - - - - 391677 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391677 - Short stature-optic atrophy-Pelger-Huët anomaly syndrome - - Malformation syndrome - - - - - - - - 401777 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401777 - Optic atrophy-intellectual disability syndrome - - Disease - - - - - - - - 411590 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411590 - Wolfram-like syndrome - - Disease - - - - - - - - 431320 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=431320 - Spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder - - Clinical group - - - - - - 320406 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=320406 - Spastic paraplegia-optic atrophy-neuropathy syndrome - - Disease - - - - - - - - 431329 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=431329 - Autosomal recessive spastic paraplegia type 57 - - Disease - - - - - - - - 468661 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=468661 - Autosomal recessive spastic paraplegia type 74 - - Disease - - - - - - - - 320375 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=320375 - Autosomal recessive spastic paraplegia type 55 - - Disease - - - - - - - - - - 447896 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447896 - Tremor-ataxia-central hypomyelination syndrome - - Clinical subtype - - - - - - - - 457406 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457406 - Multiple mitochondrial dysfunctions syndrome type 4 - - Disease - - - - - - - - 457205 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457205 - Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome - - Disease - - - - - - - - 508093 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508093 - MEPAN syndrome - - Malformation syndrome - - - - - - - - 495844 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=495844 - C11ORF73-related autosomal recessive hypomyelinating leukodystrophy - - Disease - - - - - - - - 497623 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=497623 - C12ORF65-related combined oxidative phosphorylation defect - - Clinical group - - - - - - 254930 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254930 - Combined oxidative phosphorylation defect type 7 - - Disease - - - - - - - - 320375 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=320375 - Autosomal recessive spastic paraplegia type 55 - - Disease - - - - - - - - - - 496641 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=496641 - Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome - - Malformation syndrome - - - - - - - - 496790 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=496790 - Ocular anomalies-axonal neuropathy-developmental delay syndrome - - Disease - - - - - - - - 227976 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=227976 - Autosomal recessive optic atrophy, OPA7 type - - Disease - - - - - - - - 542585 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=542585 - Auditory neuropathy-optic atrophy syndrome - - Disease - - - - - - - - 543470 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=543470 - Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome - - Disease - - - - - - - - 97229 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97229 - Riboflavin transporter deficiency - - Malformation syndrome - - - - - - 572543 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572543 - RFVT2-related riboflavin transporter deficiency - - Clinical subtype - - - - - - - - 572550 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572550 - RFVT3-related riboflavin transporter deficiency - - Clinical subtype - - - - - - - - - - - - - - 137905 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137905 - Syndromic optic nerve hypoplasia - - Category - - - - - - 3157 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3157 - Septo-optic dysplasia spectrum - - Malformation syndrome - - - - - - - - 250972 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=250972 - Polymicrogyria with optic nerve hypoplasia - - Malformation syndrome - - - - - - - - 603494 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=603494 - Coloboma-osteopetrosis-microphthalmia-macrocephaly-albinism-deafness syndrome - - Malformation syndrome - - - - - - - - - - 522514 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=522514 - Congenital optic disc excavation of genetic origin - - Category - - - - - - 35737 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35737 - Morning glory disc anomaly - - Morphological anomaly - - - - - - - - 98947 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98947 - Coloboma of optic disc - - Morphological anomaly - - - - - - - - 464760 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464760 - Familial cavitary optic disc anomaly - - Morphological anomaly - - - - - - - - - - 519337 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519337 - Disorder with optic nerve compression - - Category - - - - - - 667 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=667 - Autosomal recessive malignant osteopetrosis - - Malformation syndrome - - - - - - - - 53 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53 - Albers-Schönberg osteopetrosis - - Malformation syndrome - - - - - - - - - - 519339 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519339 - Pseudopapilledema - - Category - - - - - - 2980 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2980 - Acrootoocular syndrome - - Malformation syndrome - - - - - - - - 313800 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313800 - Retinal dystrophy-optic nerve edema-splenomegaly-anhidrosis-migraine headache syndrome - - Disease - - - - - - - - - - 519345 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519345 - Rare disorder with optic disc malformation - - Category - - - - - - 1475 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1475 - Renal coloboma syndrome - - Malformation syndrome - - - - - - - - 435930 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435930 - Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome - - Disease - - - - - - - - 52055 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52055 - Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome - - Malformation syndrome - - - - - - - - 324737 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324737 - SRD5A3-CDG - - Disease - - - - - - - - - - 637061 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=637061 - Isolated optic nerve hypoplasia - - Morphological anomaly - - - - - - - - - - 519353 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519353 - Rare trochlear nerve disorder - - Category - - - - - - 91498 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91498 - Familial congenital palsy of trochlear nerve - - Disease - - - - - - - - 98686 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98686 - Congenital trochlear nerve palsy - - Disease - - - - - - - - - - - - 522508 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=522508 - Rare genetic ophthalmic disorder with cortical involvement - - Category - - - - - - 550 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=550 - MELAS - - Disease - - - - - - - - 2512 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2512 - Autosomal recessive primary microcephaly - - Etiological subtype - - - - - - - - 1389 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1389 - Cortical blindness-intellectual disability-polydactyly syndrome - - Malformation syndrome - - - - - - - - 98688 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98688 - Oculomotor apraxia - - Category - - - - - - 1125 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1125 - Ocular motor apraxia, Cogan type - - Disease - - - - - - - - 370022 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370022 - Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome - - Disease - - - - - - - - 2072 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2072 - Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome - - Clinical subtype - - - - - - - - 77261 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77261 - Gaucher disease type 3 - - Clinical subtype - - - - - - - - 459033 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=459033 - Ataxia-oculomotor apraxia type 4 - - Disease - - - - - - - - 505242 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=505242 - Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome - - Disease - - - - - - - - - - 363722 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363722 - Alexander disease type II - - Clinical subtype - - - - - - - - 411986 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411986 - Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome - - Malformation syndrome - - - - - - - - 457351 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457351 - Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome - - Malformation syndrome - - - - - - - - 477814 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477814 - Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome - - Malformation syndrome - - - - - - - - 480898 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480898 - Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome - - Disease - - - - - - - - 488613 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488613 - Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome - - Malformation syndrome - - - - - - - - 488642 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488642 - TELO2-related intellectual disability-neurodevelopmental disorder - - Malformation syndrome - - - - - - - - - - 522516 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=522516 - Rare genetic ocular motility/alignment disorder - - Category - - - - - - 522518 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=522518 - Rare genetic disorder with strabismus - - Category - - - - - - 522520 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=522520 - Syndromic genetic disorder with strabismus - - Category - - - - - - 578 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=578 - Mucolipidosis type IV - - Disease - - - - - - - - 100 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100 - Ataxia-telangiectasia - - Disease - - - - - - - - 908 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=908 - Fragile X syndrome - - Malformation syndrome - - - - - - - - 861 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=861 - Treacher-Collins syndrome - - Malformation syndrome - - - - - - - - 44 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=44 - Neonatal adrenoleukodystrophy - - Disease - - - - - - - - 1369 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1369 - Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome - - Disease - - - - - - - - 570 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=570 - Moebius syndrome - - Disease - - - - - - - - 2744 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2744 - Horizontal gaze palsy with progressive scoliosis - - Disease - - - - - - - - 1581 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1581 - Non-distal deletion 10q syndrome - - Malformation syndrome - - - - - - - - 1064 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1064 - Aniridia-renal agenesis-psychomotor retardation syndrome - - Malformation syndrome - - - - - - - - 1188 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1188 - Ataxia-deafness-intellectual disability syndrome - - Malformation syndrome - - - - - - - - 1313 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1313 - Infantile choroidocerebral calcification syndrome - - Disease - - - - - - - - 1381 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1381 - Cataract-intellectual disability-anal atresia-urinary defects syndrome - - Malformation syndrome - - - - - - - - 190 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=190 - Coats disease - - Disease - - - - - - - - 1548 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1548 - Cryptorchidism-arachnodactyly-intellectual disability syndrome - - Malformation syndrome - - - - - - - - 1568 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1568 - X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome - - Malformation syndrome - - - - - - - - 2057 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2057 - Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome - - Malformation syndrome - - - - - - - - 2163 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2163 - Holoprosencephaly-craniosynostosis syndrome - - Malformation syndrome - - - - - - - - 2307 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2307 - IVIC syndrome - - Malformation syndrome - - - - - - - - 559 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=559 - Marinesco-Sjögren syndrome - - Disease - - - - - - - - 2471 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2471 - McDonough syndrome - - Malformation syndrome - - - - - - - - 2511 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2511 - Microbrachycephaly-ptosis-cleft lip syndrome - - Malformation syndrome - - - - - - - - 2557 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2557 - Mietens syndrome - - Malformation syndrome - - - - - - - - 2674 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2674 - Cyprus facial-neuromusculoskeletal syndrome - - Malformation syndrome - - - - - - - - 2713 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2713 - Oculoosteocutaneous syndrome - - Malformation syndrome - - - - - - - - 2715 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2715 - Severe oculo-renal-cerebellar syndrome - - Malformation syndrome - - - - - - - - 2804 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2804 - W syndrome - - Malformation syndrome - - - - - - - - 2999 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2999 - Ptosis-strabismus-ectopic pupils syndrome - - Malformation syndrome - - - - - - - - 3010 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3010 - Qazi-Markouizos syndrome - - Disease - - - - - - - - 3026 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3026 - Radial ray hypoplasia-choanal atresia syndrome - - Malformation syndrome - - - - - - - - 3038 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3038 - Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome - - Malformation syndrome - - - - - - - - 3052 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3052 - X-linked intellectual disability-seizures-psoriasis syndrome - - Disease - - - - - - - - 3055 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3055 - X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome - - Malformation syndrome - - - - - - - - 3214 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3214 - Deaf blind hypopigmentation syndrome, Yemenite type - - Malformation syndrome - - - - - - - - 3270 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3270 - Radioulnar synostosis-developmental delay-hypotonia syndrome - - Malformation syndrome - - - - - - - - 3293 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3293 - Telecanthus-hypertelorism-strabismus-pes cavus syndrome - - Malformation syndrome - - - - - - - - 2519 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2519 - Microcephaly-seizures-intellectual disability-heart disease syndrome - - Malformation syndrome - - - - - - - - 1129 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1129 - Arachnodactyly-abnormal ossification-intellectual disability syndrome - - Malformation syndrome - - - - - - - - 3474 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3474 - CHIME syndrome - - Malformation syndrome - - - - - - - - 2968 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2968 - Leukocyte adhesion deficiency - - Disease - - - - - - 99842 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99842 - Leukocyte adhesion deficiency type I - - Clinical subtype - - - - - - - - 99843 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99843 - Leukocyte adhesion deficiency type II - - Clinical subtype - - - - - - - - 99844 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99844 - Leukocyte adhesion deficiency type III - - Clinical subtype - - - - - - - - - - 1246 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1246 - Brachydactyly-nystagmus-cerebellar ataxia syndrome - - Malformation syndrome - - - - - - - - 175 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=175 - Cartilage-hair hypoplasia - - Disease - - - - - - - - 272 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=272 - Congenital muscular dystrophy, Fukuyama type - - Malformation syndrome - - - - - - - - 588 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=588 - Muscle-eye-brain disease - - Malformation syndrome - - - - - - - - 33445 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33445 - Neuroectodermal melanolysosomal disease - - Malformation syndrome - - - - - - - - 562559 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=562559 - Anterior maxillary protrusion-strabismus-intellectual disability syndrome - - Malformation syndrome - - - - - - - - 592564 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=592564 - GNAO1-related developmental delay-seizures-movement disorder spectrum - - Disease - - - - - - - - 522077 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=522077 - Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome - - Disease - - - - - - - - 35612 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35612 - Nanophthalmos - - Malformation syndrome - - - - - - - - 35737 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35737 - Morning glory disc anomaly - - Morphological anomaly - - - - - - - - 45358 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=45358 - Congenital fibrosis of extraocular muscles - - Disease - - - - - - - - 50815 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50815 - Branchiogenic deafness syndrome - - Malformation syndrome - - - - - - - - 73246 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73246 - Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome - - Malformation syndrome - - - - - - - - 77260 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77260 - Gaucher disease type 2 - - Clinical subtype - - - - - - - - 77301 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77301 - Monosomy 9q22.3 syndrome - - Malformation syndrome - - - - - - - - 79281 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79281 - Alpha-N-acetylgalactosaminidase deficiency type 3 - - Clinical subtype - - - - - - - - 79434 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79434 - Oculocutaneous albinism type 1B - - Clinical subtype - - - - - - - - 79435 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79435 - Oculocutaneous albinism type 4 - - Disease - - - - - - - - 85278 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85278 - Christianson syndrome - - Malformation syndrome - - - - - - - - 85283 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85283 - X-linked intellectual disability, Miles-Carpenter type - - Malformation syndrome - - - - - - - - 93293 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93293 - Okihiro syndrome - - Malformation syndrome - - - - - - 261638 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261638 - Okihiro syndrome due to 20q13 microdeletion - - Etiological subtype - - - - - - - - 261647 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261647 - Okihiro syndrome due to a point mutation - - Etiological subtype - - - - - - - - - - 98684 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98684 - Craniostenosis with strabismus - - Category - - - - - - 710 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=710 - Pfeiffer syndrome - - Malformation syndrome - - - - - - 93258 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93258 - Pfeiffer syndrome type 1 - - Clinical subtype - - - - - - - - 93259 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93259 - Pfeiffer syndrome type 2 - - Clinical subtype - - - - - - - - 93260 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93260 - Pfeiffer syndrome type 3 - - Clinical subtype - - - - - - - - - - 794 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=794 - Saethre-Chotzen syndrome - - Malformation syndrome - - - - - - - - 207 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=207 - Crouzon syndrome - - Malformation syndrome - - - - - - - - 87 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=87 - Apert syndrome - - Malformation syndrome - - - - - - - - 3366 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3366 - Non-syndromic metopic craniosynostosis - - Morphological anomaly - - - - - - - - 35093 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35093 - Non-syndromic sagittal craniosynostosis - - Morphological anomaly - - - - - - - - 35099 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35099 - Non-syndromic bicoronal craniosynostosis - - Morphological anomaly - - - - - - - - 93262 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93262 - Crouzon syndrome-acanthosis nigricans syndrome - - Malformation syndrome - - - - - - - - - - 99803 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99803 - Haddad syndrome - - Malformation syndrome - - - - - - - - 228390 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228390 - Frontonasal dysplasia-alopecia-genital anomalies syndrome - - Malformation syndrome - - - - - - - - 228399 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228399 - 8q12 microduplication syndrome - - Malformation syndrome - - - - - - - - 363528 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363528 - Intellectual disability-strabismus syndrome - - Disease - - - - - - - - 436141 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436141 - HIDEA syndrome - - Malformation syndrome - - - - - - - - 467176 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=467176 - Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome - - Disease - - - - - - - - - - - - 522522 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=522522 - Rare genetic neuromuscular disorder with ocular motility/alignment anomaly - - Category - - - - - - 248111 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=248111 - Juvenile Huntington disease - - Disease - - - - - - - - 399 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399 - Huntington disease - - Disease - - - - - - - - 270 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=270 - Oculopharyngeal muscular dystrophy - - Disease - - - - - - - - 1876 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1876 - Oculogastrointestinal muscular dystrophy - - Disease - - - - - - - - 480 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480 - Kearns-Sayre syndrome - - Disease - - - - - - - - 273 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=273 - Steinert myotonic dystrophy - - Disease - - - - - - 589824 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589824 - Childhood-onset Steinert myotonic dystrophy - - Clinical subtype - - - - - - - - 589827 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589827 - Juvenile-onset Steinert myotonic dystrophy - - Clinical subtype - - - - - - - - 589830 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589830 - Adult-onset Steinert myotonic dystrophy - - Clinical subtype - - - - - - - - 589833 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589833 - Late-onset Steinert myotonic dystrophy - - Clinical subtype - - - - - - - - 589821 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589821 - Congenital-onset Steinert myotonic dystrophy - - Clinical subtype - - - - - - - - - - 2743 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2743 - Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome - - Malformation syndrome - - - - - - - - 298 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=298 - Mitochondrial neurogastrointestinal encephalomyopathy - - Disease - - - - - - - - 590 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=590 - Congenital myasthenic syndrome - - Disease - - - - - - 98913 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98913 - Postsynaptic congenital myasthenic syndromes - - Etiological subtype - - - - - - - - 98914 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98914 - Presynaptic congenital myasthenic syndromes - - Etiological subtype - - - - - - - - 98915 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98915 - Synaptic congenital myasthenic syndromes - - Etiological subtype - - - - - - - - 353327 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353327 - Congenital myasthenic syndromes with glycosylation defect - - Etiological subtype - - - - - - - - - - 98896 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98896 - Duchenne muscular dystrophy - - Disease - - - - - - - - 98897 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98897 - Oculopharyngodistal myopathy - - Disease - - - - - - - - 329336 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329336 - Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy - - Disease - - - - - - - - 352447 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352447 - Progressive external ophthalmoplegia-myopathy-emaciation syndrome - - Disease - - - - - - - - 363677 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363677 - Childhood-onset autosomal recessive myopathy with external ophthalmoplegia - - Disease - - - - - - - - 520820 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=520820 - Progressive external ophthalmoplegia - - Category - - - - - - 663 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=663 - Mitochondrial DNA-related progressive external ophthalmoplegia - - Disease - - - - - - - - 254886 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254886 - Autosomal recessive progressive external ophthalmoplegia - - Disease - - - - - - - - 254892 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254892 - Autosomal dominant progressive external ophthalmoplegia - - Disease - - - - - - - - - - - - - - 522506 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=522506 - Rare genetic brainstem or cerebellar disorder with ophthalmic involvement as a major feature - - Category - - - - - - 702 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=702 - Pelizaeus-Merzbacher disease - - Disease - - - - - - 280210 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280210 - Pelizaeus-Merzbacher disease, connatal form - - Clinical subtype - - - - - - - - 280219 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280219 - Pelizaeus-Merzbacher disease, classic form - - Clinical subtype - - - - - - - - 280224 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280224 - Pelizaeus-Merzbacher disease, transitional form - - Clinical subtype - - - - - - - - 280229 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280229 - Pelizaeus-Merzbacher disease in female carriers - - Clinical subtype - - - - - - - - 280234 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280234 - Null syndrome - - Clinical subtype - - - - - - - - - - 233 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=233 - Duane retraction syndrome - - Malformation syndrome - - - - - - - - 1168 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1168 - Ataxia-oculomotor apraxia type 1 - - Disease - - - - - - - - 64753 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64753 - Spinocerebellar ataxia with axonal neuropathy type 2 - - Disease - - - - - - - - 77261 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77261 - Gaucher disease type 3 - - Clinical subtype - - - - - - - - 79255 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79255 - GM1 gangliosidosis type 1 - - Clinical subtype - - - - - - - - 79256 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79256 - GM1 gangliosidosis type 2 - - Clinical subtype - - - - - - - - 98687 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98687 - Supranuclear eye movement disorder - - Category - - - - - - 94147 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94147 - Spinocerebellar ataxia type 7 - - Disease - - - - - - - - 306674 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306674 - Kufor-Rakeb syndrome - - Disease - - - - - - - - 70472 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70472 - Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type - - Disease - - - - - - - - 905 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=905 - Wilson disease - - Disease - - - - - - - - 506 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=506 - Leigh syndrome - - Disease - - - - - - - - 683 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=683 - Progressive supranuclear palsy - - Disease - - - - - - 99750 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99750 - Atypical progressive supranuclear palsy syndrome - - Clinical subtype - - - - - - 240085 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=240085 - Progressive supranuclear palsy-predominant parkinsonism syndrome - - Clinical subtype - - - - - - - - 240094 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=240094 - Progressive supranuclear palsy-pure akinesia with gait freezing syndrome - - Clinical subtype - - - - - - - - 240103 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=240103 - Progressive supranuclear palsy-corticobasal syndrome - - Clinical subtype - - - - - - - - 240112 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=240112 - Progressive supranuclear palsy-progressive non-fluent aphasia syndrome - - Clinical subtype - - - - - - - - - - 240071 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=240071 - Classic progressive supranuclear palsy syndrome - - Clinical subtype - - - - - - - - - - 646 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=646 - Niemann-Pick disease type C - - Disease - - - - - - 216972 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216972 - Niemann-Pick disease type C, severe perinatal form - - Clinical subtype - - - - - - - - 216975 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216975 - Niemann-Pick disease type C, severe early infantile neurologic onset - - Clinical subtype - - - - - - - - 216978 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216978 - Niemann-Pick disease type C, late infantile neurologic onset - - Clinical subtype - - - - - - - - 216981 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216981 - Niemann-Pick disease type C, juvenile neurologic onset - - Clinical subtype - - - - - - - - 216986 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216986 - Niemann-Pick disease type C, adult neurologic onset - - Clinical subtype - - - - - - - - - - - - 98755 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98755 - Spinocerebellar ataxia type 1 - - Disease - - - - - - - - 98756 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98756 - Spinocerebellar ataxia type 2 - - Disease - - - - - - - - 99027 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99027 - Adult-onset autosomal dominant leukodystrophy - - Disease - - - - - - - - 140874 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140874 - Joubert syndrome and related disorders - - Category - - - - - - 2318 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2318 - Joubert syndrome with oculorenal defect - - Malformation syndrome - - - - - - - - 475 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=475 - Isolated Joubert syndrome - - Malformation syndrome - - - - - - - - 1454 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1454 - Joubert syndrome with hepatic defect - - Disease - - - - - - - - 2754 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2754 - Orofaciodigital syndrome type 6 - - Malformation syndrome - - - - - - - - 220493 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220493 - Joubert syndrome with ocular defect - - Malformation syndrome - - - - - - - - 220497 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220497 - Joubert syndrome with renal defect - - Malformation syndrome - - - - - - - - 397715 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397715 - Joubert syndrome with Jeune asphyxiating thoracic dystrophy - - Malformation syndrome - - - - - - - - - - 95 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95 - Friedreich ataxia - - Disease - - - - - - - - 100 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100 - Ataxia-telangiectasia - - Disease - - - - - - - - 529574 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=529574 - Duane retraction syndrome with congenital deafness - - Malformation syndrome - - - - - - - - - - - - 522524 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=522524 - Rare genetic disorder of the ocular adnexa - - Category - - - - - - 522532 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=522532 - Rare genetic disorder of the lacrimal apparatus - - Category - - - - - - 98604 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98604 - Congenital alacrima - - Category - - - - - - 86815 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86815 - Aplasia of lacrimal and salivary glands - - Disease - - - - - - - - 1764 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1764 - Familial dysautonomia - - Disease - - - - - - - - 869 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=869 - Triple A syndrome - - Disease - - - - - - - - 91416 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91416 - Isolated congenital alacrima - - Disease - - - - - - - - 238468 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238468 - Hypohidrotic ectodermal dysplasia - - Disease - - - - - - 181 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=181 - X-linked hypohidrotic ectodermal dysplasia - - Etiological subtype - - - - - - - - 248 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=248 - Autosomal recessive hypohidrotic ectodermal dysplasia - - Etiological subtype - - - - - - - - 1810 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1810 - Autosomal dominant hypohidrotic ectodermal dysplasia - - Etiological subtype - - - - - - - - - - 289483 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289483 - Intellectual disability-alacrima-achalasia syndrome - - Disease - - - - - - - - 528105 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=528105 - Hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome - - Disease - - - - - - - - 404454 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404454 - Alacrimia-choreoathetosis-liver dysfunction syndrome - - Disease - - - - - - - - 98813 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98813 - Hypohidrotic ectodermal dysplasia with immunodeficiency - - Disease - - - - - - - - - - 522534 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=522534 - Lacrimal drainage system anomaly of genetic origin - - Category - - - - - - 451612 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=451612 - Familial congenital nasolacrimal duct obstruction - - Morphological anomaly - - - - - - - - 519274 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519274 - Syndromic lacrimal system disorder - - Category - - - - - - 1775 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1775 - Dyskeratosis congenita - - Disease - - - - - - - - 98606 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98606 - Syndromic orbital border hypoplasia - - Malformation syndrome - - - - - - - - 228396 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228396 - Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome - - Malformation syndrome - - - - - - - - - - - - 98609 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98609 - EEC syndrome and related disorders - - Category - - - - - - 978 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=978 - ADULT syndrome - - Malformation syndrome - - - - - - - - 1896 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1896 - EEC syndrome - - Malformation syndrome - - - - - - - - 2363 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2363 - Lacrimoauriculodentodigital syndrome - - Malformation syndrome - - - - - - - - 69085 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69085 - Limb-mammary syndrome - - Malformation syndrome - - - - - - - - - - - - 98594 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98594 - Rare eyebrow/eyelash disorder - - Category - - - - - - 33001 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33001 - Lymphedema-distichiasis syndrome - - Malformation syndrome - - - - - - - - 99177 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99177 - Isolated distichiasis - - Morphological anomaly - - - - - - - - - - 522526 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=522526 - Rare genetic palpebral disorder - - Category - - - - - - 98561 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98561 - Congenital malformation of the eyelid - - Category - - - - - - 98562 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98562 - Cryptophthalmia - - Category - - - - - - 2052 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2052 - Fraser syndrome - - Malformation syndrome - - - - - - - - 91396 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91396 - Isolated cryptophthalmia - - Morphological anomaly - - - - - - 98948 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98948 - Congenital symblepharon - - Clinical subtype - - - - - - - - 98949 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98949 - Complete cryptophthalmia - - Clinical subtype - - - - - - - - 98950 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98950 - Partial cryptophthalmia - - Clinical subtype - - - - - - - - - - - - 98563 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98563 - Microblepharon-ablephara syndrome - - Clinical group - - - - - - 2671 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2671 - Neu-Laxova syndrome - - Malformation syndrome - - - - - - 583602 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=583602 - Neu-Laxova syndrome due to phosphoserine aminotransferase deficiency - - Etiological subtype - - - - - - - - 583607 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=583607 - Neu-Laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency - - Etiological subtype - - - - - - - - 583612 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=583612 - Neu-Laxova syndrome due to 3-phosphoserine phosphatase deficiency - - Etiological subtype - - - - - - - - - - 920 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=920 - Ablepharon macrostomia syndrome - - Malformation syndrome - - - - - - - - - - 98564 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98564 - Eyelid border anomaly - - Category - - - - - - 91397 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91397 - Isolated ankyloblepharon filiforme adnatum - - Morphological anomaly - - - - - - - - 98565 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98565 - Syndromic ankyloblepharon filiforme adnatum - - Category - - - - - - 294963 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294963 - Popliteal pterygium syndrome - - Clinical group - - - - - - 1234 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1234 - Bartsocas-Papas syndrome - - Malformation syndrome - - - - - - - - 1300 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1300 - Autosomal dominant popliteal pterygium syndrome - - Malformation syndrome - - - - - - - - - - 85275 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85275 - Microphthalmia-ankyloblepharon-intellectual disability syndrome - - Malformation syndrome - - - - - - - - 1071 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1071 - Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome - - Malformation syndrome - - - - - - 1072 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1072 - Ankyloblepharon filiforme adnatum-cleft palate syndrome - - Clinical subtype - - - - - - - - 1074 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1074 - Ankyloblepharon filiforme adnatum-imperforate anus syndrome - - Clinical subtype - - - - - - - - - - 1791 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1791 - Frontofacionasal dysplasia - - Malformation syndrome - - - - - - - - - - 98566 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98566 - Syndromic eyelid coloboma - - Category - - - - - - 1234 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1234 - Bartsocas-Papas syndrome - - Malformation syndrome - - - - - - - - 2717 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2717 - Oculotrichoanal syndrome - - Malformation syndrome - - - - - - - - 861 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=861 - Treacher-Collins syndrome - - Malformation syndrome - - - - - - - - 245 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=245 - Nager syndrome - - Malformation syndrome - - - - - - - - 246 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=246 - Postaxial acrofacial dysostosis - - Malformation syndrome - - - - - - - - 1791 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1791 - Frontofacionasal dysplasia - - Malformation syndrome - - - - - - - - 2399 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2399 - Nasopalpebral lipoma-coloboma syndrome - - Malformation syndrome - - - - - - - - - - 98946 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98946 - Coloboma of eyelid - - Morphological anomaly - - - - - - - - - - 99176 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99176 - Congenital eyelid retraction - - Morphological anomaly - - - - - - - - - - 522528 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=522528 - Rare genetic eyelid malposition disorder - - Category - - - - - - 1253 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1253 - Ascher syndrome - - Malformation syndrome - - - - - - - - 98574 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98574 - Syndromic epicanthus - - Category - - - - - - 881 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=881 - Turner syndrome - - Malformation syndrome - - - - - - 99226 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99226 - Monosomy X syndrome - - Etiological subtype - - - - - - - - 99228 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99228 - Mosaic monosomy X syndrome - - Etiological subtype - - - - - - - - 99413 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99413 - Turner syndrome due to structural X chromosome anomalies - - Etiological subtype - - - - - - - - - - 870 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=870 - Down syndrome - - Malformation syndrome - - - - - - - - 904 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=904 - Williams syndrome - - Malformation syndrome - - - - - - - - 281 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=281 - Monosomy 5p syndrome - - Malformation syndrome - - - - - - - - 1587 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1587 - Monosomy 13q14 syndrome - - Malformation syndrome - - - - - - - - 1705 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1705 - Distal duplication 14q syndrome - - Malformation syndrome - - - - - - - - 559 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=559 - Marinesco-Sjögren syndrome - - Disease - - - - - - - - 818 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=818 - Smith-Lemli-Opitz syndrome - - Malformation syndrome - - - - - - - - 48431 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=48431 - Congenital cataracts-facial dysmorphism-neuropathy syndrome - - Malformation syndrome - - - - - - - - - - 98575 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98575 - Syndromic telecanthus - - Category - - - - - - 894 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=894 - Waardenburg syndrome type 1 - - Clinical subtype - - - - - - - - 896 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=896 - Waardenburg syndrome type 3 - - Clinical subtype - - - - - - - - 2707 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2707 - Oculocerebrofacial syndrome, Kaufman type - - Malformation syndrome - - - - - - - - 126 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=126 - Blepharophimosis-ptosis-epicanthus inversus syndrome - - Malformation syndrome - - - - - - 572354 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572354 - Blepharophimosis-ptosis-epicanthus inversus syndrome type 1 - - Clinical subtype - - - - - - - - 572361 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572361 - Blepharophimosis-ptosis-epicanthus inversus syndrome type 2 - - Clinical subtype - - - - - - - - - - 2745 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2745 - Opitz GBBB syndrome - - Malformation syndrome - - - - - - - - 572333 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572333 - Blepharophimosis-ptosis-epicanthus inversus syndrome plus - - Malformation syndrome - - - - - - - - - - 98576 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98576 - Syndromic outer canthal malposition - - Category - - - - - - 870 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=870 - Down syndrome - - Malformation syndrome - - - - - - - - 2701 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2701 - Noonan syndrome-like disorder with loose anagen hair - - Malformation syndrome - - - - - - - - 648 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=648 - Noonan syndrome - - Malformation syndrome - - - - - - - - 861 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=861 - Treacher-Collins syndrome - - Malformation syndrome - - - - - - - - 245 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=245 - Nager syndrome - - Malformation syndrome - - - - - - - - - - 98578 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98578 - Rare disorder with ptosis - - Category - - - - - - 2308 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2308 - Jacobsen syndrome - - Malformation syndrome - - - - - - - - 1323 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1323 - Camptodactyly-joint contractures-facial skeletal defects syndrome - - Malformation syndrome - - - - - - - - 273 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=273 - Steinert myotonic dystrophy - - Disease - - - - - - 589824 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589824 - Childhood-onset Steinert myotonic dystrophy - - Clinical subtype - - - - - - - - 589827 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589827 - Juvenile-onset Steinert myotonic dystrophy - - Clinical subtype - - - - - - - - 589830 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589830 - Adult-onset Steinert myotonic dystrophy - - Clinical subtype - - - - - - - - 589833 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589833 - Late-onset Steinert myotonic dystrophy - - Clinical subtype - - - - - - - - 589821 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589821 - Congenital-onset Steinert myotonic dystrophy - - Clinical subtype - - - - - - - - - - 580 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=580 - Mucopolysaccharidosis type 2 - - Disease - - - - - - 217085 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217085 - Mucopolysaccharidosis type 2, severe form - - Clinical subtype - - - - - - - - 217093 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217093 - Mucopolysaccharidosis type 2, attenuated form - - Clinical subtype - - - - - - - - - - 648 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=648 - Noonan syndrome - - Malformation syndrome - - - - - - - - 794 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=794 - Saethre-Chotzen syndrome - - Malformation syndrome - - - - - - - - 126 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=126 - Blepharophimosis-ptosis-epicanthus inversus syndrome - - Malformation syndrome - - - - - - 572354 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572354 - Blepharophimosis-ptosis-epicanthus inversus syndrome type 1 - - Clinical subtype - - - - - - - - 572361 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572361 - Blepharophimosis-ptosis-epicanthus inversus syndrome type 2 - - Clinical subtype - - - - - - - - - - 861 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=861 - Treacher-Collins syndrome - - Malformation syndrome - - - - - - - - 199 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199 - Cornelia de Lange syndrome - - Malformation syndrome - - - - - - - - 596 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=596 - X-linked centronuclear myopathy - - Disease - - - - - - - - 235 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=235 - Dubowitz syndrome - - Malformation syndrome - - - - - - - - 606 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=606 - Proximal myotonic myopathy - - Disease - - - - - - - - 270 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=270 - Oculopharyngeal muscular dystrophy - - Disease - - - - - - - - 1876 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1876 - Oculogastrointestinal muscular dystrophy - - Disease - - - - - - - - 127 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=127 - Borjeson-Forssman-Lehmann syndrome - - Malformation syndrome - - - - - - - - 1352 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1352 - Atrioventricular defect-blepharophimosis-radial and anal defect syndrome - - Malformation syndrome - - - - - - - - 2057 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2057 - Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome - - Malformation syndrome - - - - - - - - 2980 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2980 - Acrootoocular syndrome - - Malformation syndrome - - - - - - - - 2997 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2997 - Ptosis-vocal cord paralysis syndrome - - Malformation syndrome - - - - - - - - 2999 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2999 - Ptosis-strabismus-ectopic pupils syndrome - - Malformation syndrome - - - - - - - - 2995 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2995 - Baraitser-Winter cerebrofrontofacial syndrome - - Malformation syndrome - - - - - - - - 663 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=663 - Mitochondrial DNA-related progressive external ophthalmoplegia - - Disease - - - - - - - - 818 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=818 - Smith-Lemli-Opitz syndrome - - Malformation syndrome - - - - - - - - 298 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=298 - Mitochondrial neurogastrointestinal encephalomyopathy - - Disease - - - - - - - - 590 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=590 - Congenital myasthenic syndrome - - Disease - - - - - - 98913 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98913 - Postsynaptic congenital myasthenic syndromes - - Etiological subtype - - - - - - - - 98914 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98914 - Presynaptic congenital myasthenic syndromes - - Etiological subtype - - - - - - - - 98915 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98915 - Synaptic congenital myasthenic syndromes - - Etiological subtype - - - - - - - - 353327 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353327 - Congenital myasthenic syndromes with glycosylation defect - - Etiological subtype - - - - - - - - - - 230 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=230 - Dopamine beta-hydroxylase deficiency - - Disease - - - - - - - - 45358 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=45358 - Congenital fibrosis of extraocular muscles - - Disease - - - - - - - - 46627 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=46627 - Char syndrome - - Malformation syndrome - - - - - - - - 66629 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66629 - Goldberg-Shprintzen megacolon syndrome - - Malformation syndrome - - - - - - - - 91411 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91411 - Congenital ptosis - - Disease - - - - - - - - 91412 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91412 - Marcus-Gunn syndrome - - Disease - - - - - - 98951 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98951 - Inverse Marcus-Gunn phenomenon - - Clinical subtype - - - - - - - - 101104 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101104 - Marin-Amat syndrome - - Clinical subtype - - - - - - - - - - 91413 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91413 - Congenital Horner syndrome - - Disease - - - - - - - - 98897 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98897 - Oculopharyngodistal myopathy - - Disease - - - - - - - - 228396 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228396 - Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome - - Malformation syndrome - - - - - - - - 293642 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293642 - Blepharophimosis-intellectual disability syndrome - - Clinical group - - - - - - 1620 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1620 - Distal deletion 3p syndrome - - Malformation syndrome - - - - - - - - 2728 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2728 - Blepharophimosis-intellectual disability syndrome, Ohdo type - - Malformation syndrome - - - - - - - - 3047 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3047 - Blepharophimosis-intellectual disability syndrome, SBBYS type - - Malformation syndrome - - - - - - - - 293707 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293707 - Blepharophimosis-intellectual disability syndrome, MKB type - - Malformation syndrome - - - - - - - - 293725 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293725 - Blepharophimosis-intellectual disability syndrome, Verloes type - - Malformation syndrome - - - - - - - - 637013 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=637013 - SMARCA2-related blepharophimosis-intellectual disability syndrome - - Malformation syndrome - - - - - - - - 700160 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700160 - ADNP-related blepharophimosis-intellectual disability syndrome - - Disease - - - - - - - - - - 502430 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=502430 - Weiss-Kruszka Syndrome - - Malformation syndrome - - - - - - - - 572333 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572333 - Blepharophimosis-ptosis-epicanthus inversus syndrome plus - - Malformation syndrome - - - - - - - - - - 99169 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99169 - Epiblepharon - - Morphological anomaly - - - - - - - - 99172 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99172 - Euryblepharon - - Morphological anomaly - - - - - - - - 519268 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519268 - Rare disorder with ectropion - - Category - - - - - - 98571 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98571 - Secondary ectropion - - Category - - - - - - 2269 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2269 - Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome - - Disease - - - - - - - - 910 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=910 - Xeroderma pigmentosum - - Disease - - - - - - - - 90342 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90342 - Xeroderma pigmentosum variant - - Disease - - - - - - - - 220295 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220295 - Xeroderma pigmentosum-Cockayne syndrome complex - - Disease - - - - - - - - 281097 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=281097 - Autosomal recessive congenital ichthyosis - - Clinical group - - - - - - 313 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313 - Lamellar ichthyosis - - Disease - - - - - - - - 457 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457 - Harlequin ichthyosis - - Disease - - - - - - - - 79394 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79394 - Congenital ichthyosiform erythroderma - - Disease - - - - - - - - 100976 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100976 - Bathing suit ichthyosis - - Disease - - - - - - - - 281122 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=281122 - Self-improving collodion baby - - Disease - - - - - - - - 281127 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=281127 - Acral self-healing collodion baby - - Disease - - - - - - - - 289586 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289586 - Exfoliative ichthyosis - - Disease - - - - - - - - - - 870 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=870 - Down syndrome - - Malformation syndrome - - - - - - - - 246 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=246 - Postaxial acrofacial dysostosis - - Malformation syndrome - - - - - - - - 1231 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1231 - Barber-Say syndrome - - Malformation syndrome - - - - - - - - - - 98570 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98570 - Congenital ectropion - - Category - - - - - - 1997 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1997 - Blepharo-cheilo-odontic syndrome - - Malformation syndrome - - - - - - - - 2322 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2322 - Kabuki syndrome - - Malformation syndrome - - - - - - - - 99171 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99171 - Isolated congenital ectropion - - Morphological anomaly - - - - - - - - 357158 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357158 - Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome - - Disease - - - - - - - - - - - - 522530 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=522530 - Rare genetic disorder with entropion - - Category - - - - - - 910 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=910 - Xeroderma pigmentosum - - Disease - - - - - - - - 90342 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90342 - Xeroderma pigmentosum variant - - Disease - - - - - - - - 99170 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99170 - Tarsal kink syndrome - - Morphological anomaly - - - - - - - - 220295 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220295 - Xeroderma pigmentosum-Cockayne syndrome complex - - Disease - - - - - - - - - - - - - - - - 519296 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519296 - Rare disorder with pigmented sclera - - Category - - - - - - 813 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=813 - Silver-Russell syndrome - - Disease - - - - - - 96182 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96182 - Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 - - Etiological subtype - - - - - - - - 231137 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231137 - Silver-Russell syndrome due to 7p11.2p13 microduplication - - Etiological subtype - - - - - - - - 231140 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231140 - Silver-Russell syndrome due to an imprinting defect of 11p15 - - Etiological subtype - - - - - - - - 231144 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231144 - Silver-Russell syndrome due to 11p15 microduplication - - Etiological subtype - - - - - - - - 231147 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231147 - Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 - - Etiological subtype - - - - - - - - 397590 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397590 - Silver-Russell syndrome due to a point mutation - - Etiological subtype - - - - - - - - - - 1865 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1865 - Dyssegmental dysplasia, Silverman-Handmaker type - - Disease - - - - - - - - 2050 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2050 - Cole-Carpenter syndrome - - Malformation syndrome - - - - - - - - 2097 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2097 - Grant syndrome - - Malformation syndrome - - - - - - - - 2101 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2101 - Grubben-de Cock-Borghgraef syndrome - - Malformation syndrome - - - - - - - - 2186 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2186 - Hydrocephalus-blue sclerae-nephropathy syndrome - - Malformation syndrome - - - - - - - - 2475 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2475 - White forelock with malformations - - Malformation syndrome - - - - - - - - 2484 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2484 - Melnick-Needles syndrome - - Malformation syndrome - - - - - - - - 175 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=175 - Cartilage-hair hypoplasia - - Disease - - - - - - - - 1900 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1900 - Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency - - Clinical subtype - - - - - - - - 52047 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52047 - Braddock syndrome - - Malformation syndrome - - - - - - - - 66633 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66633 - Sensorineural hearing loss-early graying-essential tremor syndrome - - Disease - - - - - - - - 157965 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157965 - SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome - - Clinical subtype - - - - - - - - 216796 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216796 - Osteogenesis imperfecta type 1 - - Clinical subtype - - - - - - - - 216804 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216804 - Osteogenesis imperfecta type 2 - - Clinical subtype - - - - - - - - 216812 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216812 - Osteogenesis imperfecta type 3 - - Clinical subtype - - - - - - - - 216820 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216820 - Osteogenesis imperfecta type 4 - - Clinical subtype - - - - - - - - 56 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=56 - Alkaptonuria - - Disease - - - - - - - - 2772 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2772 - Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome - - Malformation syndrome - - - - - - - - - - 522570 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=522570 - Rare genetic disorder of the posterior segment of the eye - - Category - - - - - - 98942 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98942 - Coloboma of choroid and retina - - Morphological anomaly - - - - - - - - 522584 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=522584 - Rare genetic choroidal disorder - - Category - - - - - - 139450 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139450 - Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome - - Malformation syndrome - - - - - - - - 519300 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519300 - Isolated chorioretinal dystrophy - - Category - - - - - - 59181 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=59181 - Sorsby pseudoinflammatory fundus dystrophy - - Disease - - - - - - - - 180 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180 - Choroideremia - - Disease - - - - - - - - 1884 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1884 - Ectopia lentis-chorioretinal dystrophy-myopia syndrome - - Disease - - - - - - - - 41751 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=41751 - Bietti crystalline dystrophy - - Disease - - - - - - - - 86813 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86813 - Helicoid peripapillary chorioretinal degeneration - - Disease - - - - - - - - 75373 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75373 - Progressive bifocal chorioretinal atrophy - - Disease - - - - - - - - 75377 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75377 - Central areolar choroidal dystrophy - - Disease - - - - - - - - 251295 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251295 - Pigmented paravenous retinochoroidal atrophy - - Disease - - - - - - - - 443079 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443079 - Central serous chorioretinopathy - - Disease - - - - - - - - - - 519321 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519321 - Syndromic chorioretinal dystrophy - - Category - - - - - - 1435 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1435 - Xq21 microdeletion syndrome - - Malformation syndrome - - - - - - - - 50 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50 - Aicardi syndrome - - Disease - - - - - - - - 1180 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1180 - Ataxia-hypogonadism-choroidal dystrophy syndrome - - Disease - - - - - - - - 1433 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1433 - Choroidal atrophy-alopecia syndrome - - Malformation syndrome - - - - - - - - 2526 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2526 - Microcephaly-lymphedema-chorioretinopathy syndrome - - Malformation syndrome - - - - - - - - 369970 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369970 - Microcornea-myopic chorioretinal atrophy-telecanthus syndrome - - Disease - - - - - - - - 2518 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2518 - Autosomal recessive chorioretinopathy-microcephaly syndrome - - Malformation syndrome - - - - - - - - 3417 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3417 - Van den Bosch syndrome - - Malformation syndrome - - - - - - - - - - - - 522572 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=522572 - Rare genetic retinal disorder - - Category - - - - - - 1852 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1852 - X-linked retinal dysplasia - - Disease - - - - - - - - 71862 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71862 - Inherited retinal disorder - - Category - - - - - - 519325 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519325 - Syndromic inherited retinal disorder - - Category - - - - - - 333 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=333 - Farber disease - - Disease - - - - - - - - 578 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=578 - Mucolipidosis type IV - - Disease - - - - - - - - 796 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=796 - Sandhoff disease - - Disease - - - - - - 309155 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309155 - Sandhoff disease, infantile form - - Clinical subtype - - - - - - - - 309162 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309162 - Sandhoff disease, juvenile form - - Clinical subtype - - - - - - - - 309169 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309169 - Sandhoff disease, adult form - - Clinical subtype - - - - - - - - - - 50 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50 - Aicardi syndrome - - Disease - - - - - - - - 351 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=351 - Galactosialidosis - - Disease - - - - - - - - 845 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=845 - Tay-Sachs disease - - Disease - - - - - - 309178 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309178 - Tay-Sachs disease, infantile form - - Clinical subtype - - - - - - - - 309185 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309185 - Tay-Sachs disease, juvenile form - - Clinical subtype - - - - - - - - 309192 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309192 - Tay-Sachs disease, adult form - - Clinical subtype - - - - - - - - - - 64 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64 - Alström syndrome - - Disease - - - - - - - - 1021 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1021 - Amaurosis-hypertrichosis syndrome - - Disease - - - - - - - - 1117 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1117 - Aplasia cutis-myopia syndrome - - Disease - - - - - - - - 1180 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1180 - Ataxia-hypogonadism-choroidal dystrophy syndrome - - Disease - - - - - - - - 1571 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1571 - Knobloch syndrome - - Malformation syndrome - - - - - - - - 1573 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1573 - Hypotrichosis with juvenile macular degeneration - - Malformation syndrome - - - - - - - - 1873 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1873 - Jalili syndrome - - Malformation syndrome - - - - - - - - 1995 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1995 - Cleft lip-retinopathy syndrome - - Malformation syndrome - - - - - - - - 1051 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1051 - Ramos-Arroyo syndrome - - Malformation syndrome - - - - - - - - 2246 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2246 - Cerebellar hypoplasia-tapetoretinal degeneration syndrome - - Malformation syndrome - - - - - - - - 2518 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2518 - Autosomal recessive chorioretinopathy-microcephaly syndrome - - Malformation syndrome - - - - - - - - 2526 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2526 - Microcephaly-lymphedema-chorioretinopathy syndrome - - Malformation syndrome - - - - - - - - 2715 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2715 - Severe oculo-renal-cerebellar syndrome - - Malformation syndrome - - - - - - - - 3088 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3088 - Revesz syndrome - - Malformation syndrome - - - - - - - - 758 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=758 - Pseudoxanthoma elasticum - - Disease - - - - - - - - 48818 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=48818 - Aceruloplasminemia - - Disease - - - - - - - - 75858 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75858 - MORM syndrome - - Disease - - - - - - - - 77259 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77259 - Gaucher disease type 1 - - Clinical subtype - - - - - - - - 77292 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77292 - Infantile neurovisceral acid sphingomyelinase deficiency - - Disease - - - - - - - - 79255 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79255 - GM1 gangliosidosis type 1 - - Clinical subtype - - - - - - - - 85167 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85167 - Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome - - Disease - - - - - - - - 91496 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91496 - Snowflake vitreoretinal degeneration - - Disease - - - - - - - - 93598 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93598 - Primary hyperoxaluria type 1 - - Clinical subtype - - - - - - - - 98661 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98661 - Syndromic rod-cone dystrophy - - Category - - - - - - 171848 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171848 - Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome - - Disease - - - - - - - - 220295 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220295 - Xeroderma pigmentosum-Cockayne syndrome complex - - Disease - - - - - - - - 247522 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247522 - Primary ciliary dyskinesia-retinitis pigmentosa syndrome - - Disease - - - - - - - - 314572 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314572 - Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome - - Disease - - - - - - - - 436245 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436245 - Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome - - Disease - - - - - - - - 436274 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436274 - Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa - - Disease - - - - - - - - 480 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480 - Kearns-Sayre syndrome - - Disease - - - - - - - - 3085 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3085 - Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome - - Malformation syndrome - - - - - - - - 193 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=193 - Cohen syndrome - - Malformation syndrome - - - - - - - - 2377 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2377 - Laurence-Moon syndrome - - Malformation syndrome - - - - - - - - 191 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=191 - Cockayne syndrome - - Disease - - - - - - 1466 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1466 - COFS syndrome - - Clinical subtype - - - - - - - - 90321 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90321 - Cockayne syndrome type 1 - - Clinical subtype - - - - - - - - 90322 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90322 - Cockayne syndrome type 2 - - Clinical subtype - - - - - - - - 90324 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90324 - Cockayne syndrome type 3 - - Clinical subtype - - - - - - - - - - 886 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=886 - Usher syndrome - - Disease - - - - - - 231183 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231183 - Usher syndrome type 3 - - Clinical subtype - - - - - - - - 231169 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231169 - Usher syndrome type 1 - - Clinical subtype - - - - - - - - 231178 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231178 - Usher syndrome type 2 - - Clinical subtype - - - - - - - - - - 2235 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2235 - Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome - - Disease - - - - - - - - 2579 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2579 - Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome - - Disease - - - - - - - - 2718 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2718 - Oculotrichodysplasia - - Malformation syndrome - - - - - - - - 3011 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3011 - Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome - - Disease - - - - - - - - 110 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=110 - Bardet-Biedl syndrome - - Disease - - - - - - - - 140969 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140969 - Saldino-Mainzer syndrome - - Disease - - - - - - - - 140976 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140976 - RHYNS syndrome - - Disease - - - - - - - - 2196 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2196 - Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement - - Clinical subtype - - - - - - - - 3156 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3156 - Senior-Loken syndrome - - Disease - - - - - - - - 5 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=5 - Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency - - Disease - - - - - - - - 85332 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85332 - X-linked intellectual disability-retinitis pigmentosa syndrome - - Disease - - - - - - - - 263347 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263347 - MRCS syndrome - - Disease - - - - - - - - 96 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96 - Ataxia with vitamin E deficiency - - Disease - - - - - - - - 644 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=644 - NARP syndrome - - Disease - - - - - - - - 14 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=14 - Abetalipoproteinemia - - Disease - - - - - - - - 773 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=773 - Refsum disease - - Disease - - - - - - - - 1264 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1264 - Tricho-retino-dento-digital syndrome - - Malformation syndrome - - - - - - - - 1515 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1515 - Cranioectodermal dysplasia - - Malformation syndrome - - - - - - - - 1574 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1574 - Retinal degeneration-nanophthalmos-glaucoma syndrome - - Malformation syndrome - - - - - - - - 3363 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3363 - Trichomegaly-retina pigmentary degeneration-dwarfism syndrome - - Malformation syndrome - - - - - - - - 1415 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1415 - Hardikar syndrome - - Malformation syndrome - - - - - - - - 79189 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79189 - Peroxisome biogenesis disorder - - Clinical group - - - - - - 912 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=912 - Zellweger syndrome - - Disease - - - - - - - - 44 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=44 - Neonatal adrenoleukodystrophy - - Disease - - - - - - - - 772 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=772 - Infantile Refsum disease - - Disease - - - - - - - - - - 79282 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79282 - Methylmalonic acidemia with homocystinuria, type cblC - - Clinical subtype - - - - - - - - 166035 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166035 - Brachydactyly-short stature-retinitis pigmentosa syndrome - - Malformation syndrome - - - - - - - - 168549 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168549 - Axial spondylometaphyseal dysplasia - - Disease - - - - - - - - 494439 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=494439 - Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome - - Malformation syndrome - - - - - - - - - - 157850 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157850 - Pantothenate kinase-associated neurodegeneration - - Disease - - - - - - 216866 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216866 - Classic pantothenate kinase-associated neurodegeneration - - Clinical subtype - - - - - - - - 216873 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216873 - Atypical pantothenate kinase-associated neurodegeneration - - Clinical subtype - - - - - - - - - - 171844 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171844 - Blindness-scoliosis-arachnodactyly syndrome - - Malformation syndrome - - - - - - - - 220493 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220493 - Joubert syndrome with ocular defect - - Malformation syndrome - - - - - - - - 250977 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=250977 - AICA-ribosiduria - - Disease - - - - - - - - 309294 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309294 - Sialidosis - - Clinical group - - - - - - 812 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=812 - Sialidosis type 1 - - Disease - - - - - - - - 87876 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=87876 - Sialidosis type 2 - - Disease - - - - - - 93399 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93399 - Juvenile sialidosis type 2 - - Clinical subtype - - - - - - - - 93400 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93400 - Congenital sialidosis type 2 - - Clinical subtype - - - - - - - - - - - - 313800 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313800 - Retinal dystrophy-optic nerve edema-splenomegaly-anhidrosis-migraine headache syndrome - - Disease - - - - - - - - 2318 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2318 - Joubert syndrome with oculorenal defect - - Malformation syndrome - - - - - - - - 816 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=816 - Sjögren-Larsson syndrome - - Disease - - - - - - - - 828 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=828 - Stickler syndrome - - Disease - - - - - - 90653 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90653 - Stickler syndrome type 1 - - Clinical subtype - - - - - - - - 90654 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90654 - Stickler syndrome type 2 - - Clinical subtype - - - - - - - - 250984 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=250984 - Autosomal recessive Stickler syndrome - - Clinical subtype - - - - - - - - - - 313850 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313850 - Infantile cerebellar-retinal degeneration - - Disease - - - - - - - - 352718 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352718 - Progressive retinal dystrophy due to retinol transport defect - - Disease - - - - - - - - 397758 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397758 - Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies - - Disease - - - - - - - - 423479 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423479 - X-linked intellectual disability-limb spasticity-retinal dystrophy-arginine vasopressin deficiency - - Disease - - - - - - - - 466718 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466718 - Martinique crinkled retinal pigment epitheliopathy - - Disease - - - - - - - - 519323 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519323 - Syndromic macular dystrophy - - Category - - - - - - 91494 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91494 - Macular coloboma-cleft palate-hallux valgus syndrome - - Malformation syndrome - - - - - - - - 1471 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1471 - Coloboma of macula-brachydactyly type B syndrome - - Malformation syndrome - - - - - - - - 1897 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1897 - EEM syndrome - - Malformation syndrome - - - - - - - - 2196 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2196 - Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement - - Clinical subtype - - - - - - - - - - 141007 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141007 - Orofaciodigital syndrome type 9 - - Malformation syndrome - - - - - - - - 589442 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589442 - Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome - - Malformation syndrome - - - - - - - - 603694 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=603694 - KLHL7-related Crisponi/cold-induced sweating-like syndrome - - Disease - - - - - - - - 603684 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=603684 - KLHL7-related Bohring-Opitz-like and Crisponi/Cold-induced sweating-like overlap syndrome - - Malformation syndrome - - - - - - - - 611207 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=611207 - Spondyloepiphyseal dysplasia-sensorineural hearing loss-intellectual disability-Leber congenital amaurosis syndrome - - Clinical syndrome - - - - - - - - - - 520817 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=520817 - Isolated inherited retinal disorder - - Category - - - - - - 519306 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519306 - Isolated progressive inherited retinal disorder - - Category - - - - - - 53540 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53540 - Goldmann-Favre syndrome - - Disease - - - - - - - - 67042 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=67042 - Late-onset retinal degeneration - - Disease - - - - - - - - 364055 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=364055 - Severe early-childhood-onset retinal dystrophy - - Disease - - - - - - - - 85128 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85128 - Bothnia retinal dystrophy - - Disease - - - - - - - - 178333 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178333 - Åland Islands eye disease - - Disease - - - - - - - - 209932 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209932 - Cone dystrophy with supernormal rod response - - Disease - - - - - - - - 488197 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488197 - Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome - - Disease - - - - - - - - 791 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=791 - Retinitis pigmentosa - - Disease - - - - - - - - 1871 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1871 - Progressive cone dystrophy - - Disease - - - - - - - - 1872 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1872 - Cone rod dystrophy - - Disease - - - - - - - - 65 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65 - Leber congenital amaurosis - - Disease - - - - - - - - 139455 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139455 - Autosomal recessive bestrophinopathy - - Disease - - - - - - - - 519302 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519302 - Isolated macular dystrophy - - Category - - - - - - 1243 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1243 - Best vitelliform macular dystrophy - - Disease - - - - - - - - 827 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=827 - Stargardt disease - - Disease - - - - - - - - 59181 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=59181 - Sorsby pseudoinflammatory fundus dystrophy - - Disease - - - - - - - - 63454 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=63454 - Pattern dystrophy - - Category - - - - - - 99000 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99000 - Adult-onset foveomacular vitelliform dystrophy - - Disease - - - - - - - - 99001 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99001 - Butterfly-shaped pigment dystrophy - - Disease - - - - - - - - 99002 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99002 - Reticular dystrophy of the retinal pigment epithelium - - Disease - - - - - - - - 99003 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99003 - Multifocal pattern dystrophy simulating fundus flavimaculatus - - Disease - - - - - - - - 99004 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99004 - Fundus pulverulentus - - Disease - - - - - - - - - - 75327 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75327 - North Carolina macular dystrophy - - Disease - - - - - - - - 75377 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75377 - Central areolar choroidal dystrophy - - Disease - - - - - - - - 75381 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75381 - Cystoid macular dystrophy - - Disease - - - - - - - - 247834 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247834 - Occult macular dystrophy - - Disease - - - - - - - - 251287 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251287 - Benign concentric annular macular dystrophy - - Disease - - - - - - - - 319640 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319640 - Retinal macular dystrophy type 2 - - Disease - - - - - - - - - - 653709 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=653709 - Cone rod dystrophy-short stature syndrome - - Disease - - - - - - - - 52427 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52427 - Retinitis punctata albescens - - Disease - - - - - - - - - - 519319 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519319 - Isolated stationary inherited retinal disorder - - Category - - - - - - 41751 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=41751 - Bietti crystalline dystrophy - - Disease - - - - - - - - 49382 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=49382 - Achromatopsia - - Disease - - - - - - - - 75378 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75378 - Oligocone trichromacy - - Disease - - - - - - - - 90001 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90001 - X-linked cone dysfunction syndrome with myopia - - Disease - - - - - - - - 99179 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99179 - Kandori fleck retina - - Malformation syndrome - - - - - - - - 16 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=16 - Blue cone monochromatism - - Disease - - - - - - - - 215 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=215 - Congenital stationary night blindness - - Disease - - - - - - - - 75376 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75376 - Familial drusen - - Disease - - - - - - - - 363989 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363989 - Familial benign flecked retina - - Disease - - - - - - - - 827 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=827 - Stargardt disease - - Disease - - - - - - - - 75382 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75382 - Oguchi disease - - Malformation syndrome - - - - - - - - 227796 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=227796 - Fundus albipunctatus - - Disease - - - - - - - - - - - - - - 75374 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75374 - Bradyopsia - - Disease - - - - - - - - 209867 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209867 - Autosomal dominant rhegmatogenous retinal detachment - - Disease - - - - - - - - 522574 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=522574 - Rare genetic macular disorder - - Category - - - - - - 97341 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97341 - Persistent placoid maculopathy - - Disease - - - - - - - - 98945 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98945 - Coloboma of macula - - Morphological anomaly - - - - - - - - - - 522576 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=522576 - Rare genetic retinal vasculopathy - - Category - - - - - - 136 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=136 - Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy - - Disease - - - - - - - - 190 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=190 - Coats disease - - Disease - - - - - - - - 891 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=891 - Familial exudative vitreoretinopathy - - Disease - - - - - - - - 40923 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=40923 - Eales disease - - Disease - - - - - - - - 71213 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71213 - Retinal capillary malformation - - Disease - - - - - - - - 209943 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209943 - IRVAN syndrome - - Disease - - - - - - - - 247691 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247691 - Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations - - Disease - - - - - - - - 284247 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284247 - Familial retinal arterial macroaneurysm - - Malformation syndrome - - - - - - - - 313838 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313838 - Coats plus syndrome - - Disease - - - - - - - - 329211 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329211 - Autosomal dominant neovascular inflammatory vitreoretinopathy - - Disease - - - - - - - - 353334 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353334 - Congenital retinal arteriovenous communication - - Morphological anomaly - - - - - - - - 506307 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=506307 - Stromme syndrome - - Malformation syndrome - - - - - - - - 838 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=838 - Susac syndrome - - Disease - - - - - - - - 575553 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=575553 - Cathepsin A-related arteriopathy-strokes-leukoencephalopathy - - Disease - - - - - - - - - - 98668 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98668 - Vitreoretinopathy - - Category - - - - - - 519304 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519304 - Isolated vitreoretinopathy - - Category - - - - - - 3086 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3086 - Autosomal dominant vitreoretinochoroidopathy - - Disease - - - - - - - - 329211 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329211 - Autosomal dominant neovascular inflammatory vitreoretinopathy - - Disease - - - - - - - - 190 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=190 - Coats disease - - Disease - - - - - - - - 891 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=891 - Familial exudative vitreoretinopathy - - Disease - - - - - - - - 898 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=898 - Wagner disease - - Disease - - - - - - - - 53540 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53540 - Goldmann-Favre syndrome - - Disease - - - - - - - - 91495 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91495 - Persistent hyperplastic primary vitreous - - Disease - - - - - - - - 91496 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91496 - Snowflake vitreoretinal degeneration - - Disease - - - - - - - - - - 519327 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519327 - Syndromic vitreoretinopathy - - Category - - - - - - 3378 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3378 - Trisomy 13 syndrome - - Malformation syndrome - - - - - - - - 649 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=649 - Norrie disease - - Malformation syndrome - - - - - - - - 404473 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404473 - Intellectual disability-peripheral spasticity-exudative vitreoretinopathy syndrome - - Malformation syndrome - - - - - - - - 464 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464 - Incontinentia pigmenti - - Malformation syndrome - - - - - - - - 828 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=828 - Stickler syndrome - - Disease - - - - - - 90653 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90653 - Stickler syndrome type 1 - - Clinical subtype - - - - - - - - 90654 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90654 - Stickler syndrome type 2 - - Clinical subtype - - - - - - - - 250984 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=250984 - Autosomal recessive Stickler syndrome - - Clinical subtype - - - - - - - - - - 1571 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1571 - Knobloch syndrome - - Malformation syndrome - - - - - - - - 2788 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2788 - Osteoporosis-pseudoglioma syndrome - - Disease - - - - - - - - 899 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=899 - Walker-Warburg syndrome - - Disease - - - - - - - - 85194 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85194 - Spondylo-ocular syndrome - - Malformation syndrome - - - - - - - - 313838 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313838 - Coats plus syndrome - - Disease - - - - - - - - - - - - - - - - 522578 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=522578 - Rare genetic disorder involving multiple structures of the eye - - Category - - - - - - 359 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=359 - Pediatric-onset glaucoma of genetic origin - - Category - - - - - - 156005 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156005 - Primary early-onset glaucoma - - Clinical group - - - - - - 98976 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98976 - Congenital glaucoma - - Disease - - - - - - - - 98977 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98977 - Juvenile glaucoma - - Disease - - - - - - - - - - 522580 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=522580 - Secondary early-onset glaucoma of genetic origin - - Category - - - - - - 525677 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=525677 - Genetic congenital malformation of the eye with glaucoma as a major feature - - Category - - - - - - 792 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=792 - X-linked retinoschisis - - Malformation syndrome - - - - - - - - 190 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=190 - Coats disease - - Disease - - - - - - - - 35612 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35612 - Nanophthalmos - - Malformation syndrome - - - - - - - - 64734 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64734 - Iridocorneal endothelial syndrome - - Disease - - - - - - 98979 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98979 - Chandler syndrome - - Clinical subtype - - - - - - - - 98980 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98980 - Cogan-Reese syndrome - - Clinical subtype - - - - - - - - 98981 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98981 - Essential iris atrophy - - Clinical subtype - - - - - - - - - - 98634 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98634 - Anterior segment developmental anomaly without extraocular manifestations - - Category - - - - - - 69736 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69736 - Bilateral acute depigmentation of the iris - - Disease - - - - - - - - 98978 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98978 - Axenfeld anomaly - - Morphological anomaly - - - - - - - - 566 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=566 - Congenital microcoria - - Malformation syndrome - - - - - - - - 91483 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91483 - Rieger anomaly - - Morphological anomaly - - - - - - - - 708 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=708 - Peters anomaly - - Morphological anomaly - - - - - - - - 250923 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=250923 - Isolated aniridia - - Morphological anomaly - - - - - - - - 519388 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519388 - Autosomal recessive anterior segment dysgenesis - - Malformation syndrome - - - - - - - - 91491 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91491 - Congenital ectropion uveae - - Malformation syndrome - - - - - - - - 98944 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98944 - Coloboma of iris - - Morphological anomaly - - - - - - - - 488197 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488197 - Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome - - Disease - - - - - - - - - - 98973 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98973 - Posterior polymorphous corneal dystrophy - - Disease - - - - - - - - 238763 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238763 - Glaucoma secondary to spherophakia/ectopia lentis and megalocornea - - Malformation syndrome - - - - - - - - - - 98638 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98638 - Rare disease with glaucoma as a major feature - - Category - - - - - - 1069 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1069 - Aniridia-absent patella syndrome - - Malformation syndrome - - - - - - - - 1259 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1259 - Blepharoptosis-myopia-ectopia lentis syndrome - - Disease - - - - - - - - 1425 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1425 - Desbuquois syndrome - - Malformation syndrome - - - - - - - - 2536 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2536 - Microcornea-glaucoma-absent frontal sinuses syndrome - - Malformation syndrome - - - - - - - - 2636 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2636 - Microcephalic osteodysplastic primordial dwarfism types I and III - - Malformation syndrome - - - - - - - - 2818 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2818 - Spastic paraplegia-glaucoma-intellectual disability syndrome - - Disease - - - - - - - - 272 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=272 - Congenital muscular dystrophy, Fukuyama type - - Malformation syndrome - - - - - - - - 588 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=588 - Muscle-eye-brain disease - - Malformation syndrome - - - - - - - - 2614 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2614 - Nail-patella syndrome - - Malformation syndrome - - - - - - - - 1052 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1052 - Mosaic variegated aneuploidy syndrome - - Malformation syndrome - - - - - - - - 892 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=892 - Von Hippel-Lindau disease - - Disease - - - - - - - - 534 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=534 - Oculocerebrorenal syndrome of Lowe - - Malformation syndrome - - - - - - - - 783 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=783 - Rubinstein-Taybi syndrome - - Malformation syndrome - - - - - - 353277 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353277 - Rubinstein-Taybi syndrome due to CREBBP mutations - - Etiological subtype - - - - - - - - 353281 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353281 - Rubinstein-Taybi syndrome due to 16p13.3 microdeletion - - Etiological subtype - - - - - - - - 353284 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353284 - Rubinstein-Taybi syndrome due to EP300 haploinsufficiency - - Etiological subtype - - - - - - - - - - 394 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=394 - Homocystinuria due to cystathionine beta-synthase deficiency - - Disease - - - - - - - - 893 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=893 - WAGR syndrome - - Malformation syndrome - - - - - - - - 560 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=560 - Marshall syndrome - - Malformation syndrome - - - - - - - - 3205 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3205 - Sturge-Weber syndrome - - Malformation syndrome - - - - - - - - 828 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=828 - Stickler syndrome - - Disease - - - - - - 90653 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90653 - Stickler syndrome type 1 - - Clinical subtype - - - - - - - - 90654 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90654 - Stickler syndrome type 2 - - Clinical subtype - - - - - - - - 250984 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=250984 - Autosomal recessive Stickler syndrome - - Clinical subtype - - - - - - - - - - 709 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=709 - Peters plus syndrome - - Malformation syndrome - - - - - - - - 2085 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2085 - Glaucoma-sleep apnea syndrome - - Disease - - - - - - - - 2409 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2409 - Lowry-MacLean syndrome - - Malformation syndrome - - - - - - - - 2556 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2556 - Microphthalmia with linear skin defects syndrome - - Malformation syndrome - - - - - - - - 2712 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2712 - Oculofaciocardiodental syndrome - - Malformation syndrome - - - - - - - - 2875 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2875 - Phakomatosis pigmentovascularis - - Disease - - - - - - 79483 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79483 - Phakomatosis cesioflammea - - Clinical subtype - - - - - - - - 79484 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79484 - Phakomatosis cesiomarmorata - - Clinical subtype - - - - - - - - 79485 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79485 - Phakomatosis spilorosea - - Clinical subtype - - - - - - - - - - 3163 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3163 - SHORT syndrome - - Malformation syndrome - - - - - - - - 3449 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3449 - Weill-Marchesani syndrome - - Malformation syndrome - - - - - - - - 782 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=782 - Axenfeld-Rieger syndrome - - Malformation syndrome - - - - - - - - 79213 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79213 - Mucopolysaccharidosis - - Category - - - - - - 67041 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=67041 - Hyaluronidase deficiency - - Disease - - - - - - - - 583 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=583 - Mucopolysaccharidosis type 6 - - Disease - - - - - - 276212 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276212 - Mucopolysaccharidosis type 6, rapidly progressing - - Clinical subtype - - - - - - - - 276223 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276223 - Mucopolysaccharidosis type 6, slowly progressing - - Clinical subtype - - - - - - - - - - 584 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=584 - Mucopolysaccharidosis type 7 - - Disease - - - - - - - - 580 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=580 - Mucopolysaccharidosis type 2 - - Disease - - - - - - 217085 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217085 - Mucopolysaccharidosis type 2, severe form - - Clinical subtype - - - - - - - - 217093 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217093 - Mucopolysaccharidosis type 2, attenuated form - - Clinical subtype - - - - - - - - - - 579 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=579 - Mucopolysaccharidosis type 1 - - Disease - - - - - - 93473 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93473 - Hurler syndrome - - Clinical subtype - - - - - - - - 93474 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93474 - Scheie syndrome - - Clinical subtype - - - - - - - - 93476 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93476 - Hurler-Scheie syndrome - - Clinical subtype - - - - - - - - - - 581 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=581 - Mucopolysaccharidosis type 3 - - Disease - - - - - - 79269 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79269 - Sanfilippo syndrome type A - - Etiological subtype - - - - - - - - 79270 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79270 - Sanfilippo syndrome type B - - Etiological subtype - - - - - - - - 79271 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79271 - Sanfilippo syndrome type C - - Etiological subtype - - - - - - - - 79272 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79272 - Sanfilippo syndrome type D - - Etiological subtype - - - - - - - - - - 582 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=582 - Mucopolysaccharidosis type 4 - - Disease - - - - - - 309297 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309297 - Mucopolysaccharidosis type 4A - - Clinical subtype - - - - - - - - 309310 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309310 - Mucopolysaccharidosis type 4B - - Clinical subtype - - - - - - - - - - 662216 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662216 - Mucopolysaccharidosis type 10 - - Disease - - - - - - - - - - 96125 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96125 - Distal deletion 6p syndrome - - Malformation syndrome - - - - - - - - 1064 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1064 - Aniridia-renal agenesis-psychomotor retardation syndrome - - Malformation syndrome - - - - - - - - - - - - - - 98706 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98706 - Oculocutaneous or ocular albinism - - Category - - - - - - 55 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=55 - Oculocutaneous albinism - - Clinical group - - - - - - 79432 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79432 - Oculocutaneous albinism type 2 - - Disease - - - - - - - - 79433 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79433 - Oculocutaneous albinism type 3 - - Disease - - - - - - - - 79435 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79435 - Oculocutaneous albinism type 4 - - Disease - - - - - - - - 352731 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352731 - Oculocutaneous albinism type 1 - - Disease - - - - - - 79431 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79431 - Oculocutaneous albinism type 1A - - Clinical subtype - - - - - - - - 79434 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79434 - Oculocutaneous albinism type 1B - - Clinical subtype - - - - - - - - 352734 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352734 - Minimal pigment oculocutaneous albinism type 1 - - Clinical subtype - - - - - - - - 352737 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352737 - Temperature-sensitive oculocutaneous albinism type 1 - - Clinical subtype - - - - - - - - - - 352745 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352745 - Oculocutaneous albinism type 7 - - Disease - - - - - - - - 370091 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370091 - Oculocutaneous albinism type 5 - - Disease - - - - - - - - 370097 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370097 - Oculocutaneous albinism type 6 - - Disease - - - - - - - - 597733 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=597733 - Oculocutaneous albinism type 8 - - Disease - - - - - - - - - - 284804 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284804 - Ocular albinism - - Clinical group - - - - - - 1000 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1000 - Ocular albinism with late-onset sensorineural deafness - - Disease - - - - - - - - 54 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=54 - X-linked recessive ocular albinism - - Disease - - - - - - - - - - 284811 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284811 - Syndromic oculocutaneous albinism - - Category - - - - - - 603494 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=603494 - Coloboma-osteopetrosis-microphthalmia-macrocephaly-albinism-deafness syndrome - - Malformation syndrome - - - - - - - - 167 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=167 - Chédiak-Higashi syndrome - - Disease - - - - - - - - 381 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=381 - Griscelli syndrome - - Disease - - - - - - 79476 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79476 - Griscelli syndrome type 1 - - Clinical subtype - - - - - - - - 79477 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79477 - Griscelli syndrome type 2 - - Clinical subtype - - - - - - - - 79478 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79478 - Griscelli syndrome type 3 - - Clinical subtype - - - - - - - - - - 2719 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2719 - Oculocerebral hypopigmentation syndrome, Cross type - - Malformation syndrome - - - - - - - - 79430 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79430 - Hermansky-Pudlak syndrome - - Disease - - - - - - 183678 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183678 - Hermansky-Pudlak syndrome due to AP-3 deficiency - - Clinical subtype - - - - - - 664500 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=664500 - Hermansky-Pudlak syndrome due to AP3B1 deficiency - - Clinical subtype - - - - - - - - 664511 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=664511 - Early-onset severe Hermansky-Pudlak syndrome with hearing loss, due to AP3D1 deficiency - - Clinical subtype - - - - - - - - - - 231500 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231500 - Hermansky-Pudlak syndrome due to BLOC-3 deficiency - - Clinical subtype - - - - - - - - 231512 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231512 - Hermansky-Pudlak syndrome due to BLOC-2 deficiency - - Clinical subtype - - - - - - - - 231531 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231531 - Hermansky-Pudlak syndrome due to BLOC-1 deficiency - - Clinical subtype - - - - - - - - - - 2720 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2720 - Oculocerebral hypopigmentation syndrome, Preus type - - Malformation syndrome - - - - - - - - - - - - 314555 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314555 - Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome - - Malformation syndrome - - - - - - - - 617449 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=617449 - Congenital aphakia-iris hypoplasia-microphthalmia-microcornea syndrome - - Disease - - - - - - - - - - - - 98618 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98618 - Rare refraction anomaly - - Category - - - - - - 98619 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98619 - Rare isolated myopia - - Disease - - - - - - - - 98621 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98621 - Rare hyperopia and astigmatism - - Category - - - - - - 53691 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53691 - Congenital cornea plana - - Morphological anomaly - - - - - - - - 98622 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98622 - Syndromic hyperopia - - Category - - - - - - 3163 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3163 - SHORT syndrome - - Malformation syndrome - - - - - - - - 65 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65 - Leber congenital amaurosis - - Disease - - - - - - - - - - - - - - 98658 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98658 - Color-vision disease - - Category - - - - - - 16 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=16 - Blue cone monochromatism - - Disease - - - - - - - - 49382 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=49382 - Achromatopsia - - Disease - - - - - - - - 88629 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88629 - Tritanopia - - Disease - - - - - - - - - - 183619 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183619 - Genetic eye tumor - - Category - - - - - - 357027 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357027 - Hereditary retinoblastoma - - Clinical subtype - - - - - - - - 636 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=636 - Neurofibromatosis type 1 - - Disease - - - - - - 97685 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97685 - 17q11 microdeletion syndrome - - Clinical subtype - - - - - - - - 363700 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363700 - Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion - - Etiological subtype - - - - - - - - - - 91481 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91481 - Ring dermoid of cornea - - Disease - - - - - - - - - - - - 140162 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140162 - Inherited cancer-predisposing syndrome - - Category - - - - - - 252206 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=252206 - Melanoma and neural system tumor syndrome - - Disease - - - - - - - - 231108 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231108 - Rhabdoid tumor predisposition syndrome - - Disease - - - - - - - - 377 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=377 - Gorlin syndrome - - Malformation syndrome - - - - - - - - 1059 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1059 - Blue rubber bleb nevus - - Malformation syndrome - - - - - - - - 1775 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1775 - Dyskeratosis congenita - - Disease - - - - - - - - 296 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=296 - Ollier disease - - Disease - - - - - - - - 302 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=302 - Inherited epidermodysplasia verruciformis - - Disease - - - - - - - - 99749 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99749 - Kostmann syndrome - - Disease - - - - - - - - 163634 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163634 - Maffucci syndrome - - Disease - - - - - - - - 183422 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183422 - Polymalformative genetic syndrome with increased risk of developing cancer - - Category - - - - - - 100 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100 - Ataxia-telangiectasia - - Disease - - - - - - - - 906 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=906 - Wiskott-Aldrich syndrome - - Disease - - - - - - - - 783 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=783 - Rubinstein-Taybi syndrome - - Malformation syndrome - - - - - - 353277 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353277 - Rubinstein-Taybi syndrome due to CREBBP mutations - - Etiological subtype - - - - - - - - 353281 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353281 - Rubinstein-Taybi syndrome due to 16p13.3 microdeletion - - Etiological subtype - - - - - - - - 353284 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353284 - Rubinstein-Taybi syndrome due to EP300 haploinsufficiency - - Etiological subtype - - - - - - - - - - 648 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=648 - Noonan syndrome - - Malformation syndrome - - - - - - - - 893 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=893 - WAGR syndrome - - Malformation syndrome - - - - - - - - 2869 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2869 - Peutz-Jeghers syndrome - - Disease - - - - - - - - 794 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=794 - Saethre-Chotzen syndrome - - Malformation syndrome - - - - - - - - 52 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52 - Alagille syndrome - - Malformation syndrome - - - - - - 261600 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261600 - Alagille syndrome due to 20p12 microdeletion - - Etiological subtype - - - - - - - - 261619 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261619 - Alagille syndrome due to a JAG1 point mutation - - Etiological subtype - - - - - - - - 261629 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261629 - Alagille syndrome due to a NOTCH2 point mutation - - Etiological subtype - - - - - - - - - - 50 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50 - Aicardi syndrome - - Disease - - - - - - - - 116 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=116 - Beckwith-Wiedemann syndrome - - Malformation syndrome - - - - - - 96076 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96076 - Beckwith-Wiedemann syndrome due to 11p15 microduplication - - Etiological subtype - - - - - - - - 96193 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96193 - Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11 - - Etiological subtype - - - - - - - - 231117 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231117 - Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 - - Etiological subtype - - - - - - - - 231120 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231120 - Beckwith-Wiedemann syndrome due to CDKN1C mutation - - Etiological subtype - - - - - - - - 231127 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231127 - Beckwith-Wiedemann syndrome due to 11p15 microdeletion - - Etiological subtype - - - - - - - - 231130 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231130 - Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion - - Etiological subtype - - - - - - - - 238613 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238613 - Beckwith-Wiedemann syndrome due to NSD1 mutation - - Etiological subtype - - - - - - - - - - 562 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=562 - McCune-Albright syndrome - - Disease - - - - - - - - 124 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=124 - Diamond-Blackfan anemia - - Disease - - - - - - - - 125 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=125 - Bloom syndrome - - Disease - - - - - - - - 3071 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3071 - Costello syndrome - - Malformation syndrome - - - - - - - - 813 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=813 - Silver-Russell syndrome - - Disease - - - - - - 96182 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96182 - Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 - - Etiological subtype - - - - - - - - 231137 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231137 - Silver-Russell syndrome due to 7p11.2p13 microduplication - - Etiological subtype - - - - - - - - 231140 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231140 - Silver-Russell syndrome due to an imprinting defect of 11p15 - - Etiological subtype - - - - - - - - 231144 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231144 - Silver-Russell syndrome due to 11p15 microduplication - - Etiological subtype - - - - - - - - 231147 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231147 - Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 - - Etiological subtype - - - - - - - - 397590 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397590 - Silver-Russell syndrome due to a point mutation - - Etiological subtype - - - - - - - - - - 821 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=821 - Sotos syndrome - - Disease - - - - - - - - 84 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=84 - Fanconi anemia - - Malformation syndrome - - - - - - - - 191 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=191 - Cockayne syndrome - - Disease - - - - - - 1466 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1466 - COFS syndrome - - Clinical subtype - - - - - - - - 90321 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90321 - Cockayne syndrome type 1 - - Clinical subtype - - - - - - - - 90322 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90322 - Cockayne syndrome type 2 - - Clinical subtype - - - - - - - - 90324 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90324 - Cockayne syndrome type 3 - - Clinical subtype - - - - - - - - - - 805 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=805 - Tuberous sclerosis complex - - Disease - - - - - - - - 373 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=373 - Simpson-Golabi-Behmel syndrome - - Malformation syndrome - - - - - - - - 902 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=902 - Werner syndrome - - Disease - - - - - - - - 500 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500 - Noonan syndrome with multiple lentigines - - Malformation syndrome - - - - - - - - 1052 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1052 - Mosaic variegated aneuploidy syndrome - - Malformation syndrome - - - - - - - - 2128 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2128 - Isolated hemihyperplasia - - Morphological anomaly - - - - - - - - 798 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=798 - Schinzel-Giedion syndrome - - Malformation syndrome - - - - - - - - 647 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=647 - Nijmegen breakage syndrome - - Malformation syndrome - - - - - - - - 910 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=910 - Xeroderma pigmentosum - - Disease - - - - - - - - 2849 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2849 - Perlman syndrome - - Malformation syndrome - - - - - - - - 882 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=882 - Tyrosinemia type 1 - - Disease - - - - - - - - 220 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220 - Denys-Drash syndrome - - Disease - - - - - - - - 347 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=347 - Frasier syndrome - - Disease - - - - - - - - 811 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=811 - Shwachman-Diamond syndrome - - Disease - - - - - - - - 50944 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50944 - Schöpf-Schulz-Passarge syndrome - - Disease - - - - - - - - 60040 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=60040 - Megalencephaly-capillary malformation-polymicrogyria syndrome - - Malformation syndrome - - - - - - - - 166113 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166113 - Bazex syndrome - - Disease - - - - - - - - 220295 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220295 - Xeroderma pigmentosum-Cockayne syndrome complex - - Disease - - - - - - - - 221016 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221016 - Rothmund-Thomson syndrome type 2 - - Clinical subtype - - - - - - - - 240760 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=240760 - Nijmegen breakage syndrome-like disorder - - Malformation syndrome - - - - - - - - 251347 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251347 - Ataxia-telangiectasia-like disorder - - Disease - - - - - - - - 280558 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280558 - Warsaw breakage syndrome - - Malformation syndrome - - - - - - - - 306498 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306498 - PTEN hamartoma tumor syndrome - - Disease - - - - - - 201 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=201 - Cowden syndrome - - Clinical subtype - - - - - - - - 65285 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65285 - Lhermitte-Duclos disease - - Clinical subtype - - - - - - - - 109 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=109 - Bannayan-Riley-Ruvalcaba syndrome - - Clinical subtype - - - - - - - - 2969 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2969 - Proteus-like syndrome - - Clinical subtype - - - - - - - - 137608 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137608 - Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome - - Clinical subtype - - - - - - - - - - 363972 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363972 - Noonan syndrome-like disorder with juvenile myelomonocytic leukemia - - Malformation syndrome - - - - - - - - 438134 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=438134 - PCNA-related progressive neurodegenerative photosensitivity syndrome - - Disease - - - - - - - - 169079 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169079 - Cernunnos-XLF deficiency - - Disease - - - - - - - - 2608 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2608 - N syndrome - - Malformation syndrome - - - - - - - - 90342 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90342 - Xeroderma pigmentosum variant - - Disease - - - - - - - - 99812 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99812 - LIG4 syndrome - - Disease - - - - - - - - - - 252202 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=252202 - Constitutional mismatch repair deficiency syndrome - - Disease - - - - - - - - 276399 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276399 - Familial multinodular goiter - - Disease - - - - - - - - 289539 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289539 - BAP1-related tumor predisposition syndrome - - Disease - - - - - - - - 293822 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293822 - MITF-related melanoma and renal cell carcinoma predisposition syndrome - - Disease - - - - - - - - 313846 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313846 - Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome - - Disease - - - - - - - - 319328 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319328 - Inherited renal cancer-predisposing syndrome - - Category - - - - - - 2849 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2849 - Perlman syndrome - - Malformation syndrome - - - - - - - - 116 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=116 - Beckwith-Wiedemann syndrome - - Malformation syndrome - - - - - - 96076 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96076 - Beckwith-Wiedemann syndrome due to 11p15 microduplication - - Etiological subtype - - - - - - - - 96193 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96193 - Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11 - - Etiological subtype - - - - - - - - 231117 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231117 - Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 - - Etiological subtype - - - - - - - - 231120 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231120 - Beckwith-Wiedemann syndrome due to CDKN1C mutation - - Etiological subtype - - - - - - - - 231127 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231127 - Beckwith-Wiedemann syndrome due to 11p15 microdeletion - - Etiological subtype - - - - - - - - 231130 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231130 - Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion - - Etiological subtype - - - - - - - - 238613 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238613 - Beckwith-Wiedemann syndrome due to NSD1 mutation - - Etiological subtype - - - - - - - - - - 47044 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=47044 - Hereditary papillary renal cell carcinoma - - Disease - - - - - - - - 97290 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97290 - Familial papillary thyroid carcinoma with renal papillary neoplasia - - Disease - - - - - - - - 99880 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99880 - Hyperparathyroidism-jaw tumor syndrome - - Disease - - - - - - - - 319462 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319462 - Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations - - Disease - - - - - - - - 404476 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404476 - Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome - - Malformation syndrome - - - - - - - - 422526 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=422526 - Hereditary clear cell renal cell carcinoma - - Disease - - - - - - - - 892 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=892 - Von Hippel-Lindau disease - - Disease - - - - - - - - 805 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=805 - Tuberous sclerosis complex - - Disease - - - - - - - - 122 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=122 - Birt-Hogg-Dubé syndrome - - Malformation syndrome - - - - - - - - 523 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=523 - Hereditary leiomyomatosis and renal cell cancer - - Disease - - - - - - - - 893 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=893 - WAGR syndrome - - Malformation syndrome - - - - - - - - - - 357027 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357027 - Hereditary retinoblastoma - - Clinical subtype - - - - - - - - 404560 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404560 - Familial atypical multiple mole melanoma syndrome - - Disease - - - - - - - - 425003 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=425003 - Inherited digestive cancer-predisposing syndrome - - Category - - - - - - 99361 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99361 - Isolated familial medullary thyroid carcinoma - - Disease - - - - - - - - 653 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=653 - Multiple endocrine neoplasia type 2 - - Disease - - - - - - 247698 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247698 - Multiple endocrine neoplasia type 2A - - Clinical subtype - - - - - - - - 247709 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247709 - Multiple endocrine neoplasia type 2B - - Clinical subtype - - - - - - - - - - 104010 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=104010 - Intestinal polyposis syndrome - - Clinical group - - - - - - 261584 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261584 - 5q22 microdeletion syndrome - - Disease - - - - - - - - 247798 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247798 - MUTYH-related polyposis - - Disease - - - - - - - - 447877 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447877 - Polymerase proofreading-related polyposis - - Disease - - - - - - - - 454840 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=454840 - NTHL1-related polyposis - - Disease - - - - - - - - 480536 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480536 - MSH3-related polyposis - - Disease - - - - - - - - 157794 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157794 - Hereditary mixed polyposis syndrome - - Disease - - - - - - - - 157798 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157798 - Serrated polyposis syndrome - - Disease - - - - - - - - 220460 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220460 - Attenuated familial adenomatous polyposis - - Disease - - - - - - - - 733 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=733 - Familial adenomatous polyposis - - Disease - - - - - - - - 2869 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2869 - Peutz-Jeghers syndrome - - Disease - - - - - - - - 401911 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401911 - AXIN2-related polyposis - - Disease - - - - - - - - 201 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=201 - Cowden syndrome - - Clinical subtype - - - - - - - - 2929 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2929 - Juvenile polyposis syndrome - - Disease - - - - - - 79076 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79076 - Juvenile polyposis of infancy - - Clinical subtype - - - - - - - - 329971 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329971 - Generalized juvenile polyposis/juvenile polyposis coli - - Clinical subtype - - - - - - - - - - 109 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=109 - Bannayan-Riley-Ruvalcaba syndrome - - Clinical subtype - - - - - - - - 2930 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2930 - Cronkhite-Canada syndrome - - Disease - - - - - - - - - - 456333 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=456333 - Hereditary neuroendocrine tumor of small intestine - - Disease - - - - - - - - 652 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=652 - Multiple endocrine neoplasia type 1 - - Disease - - - - - - - - 443909 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443909 - Hereditary nonpolyposis colon cancer - - Clinical group - - - - - - 144 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=144 - Lynch syndrome - - Disease - - - - - - - - 440437 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=440437 - Familial colorectal cancer Type X - - Disease - - - - - - - - - - - - 431149 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=431149 - Combined immunodeficiency due to OX40 deficiency - - Disease - - - - - - - - 435953 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435953 - Progeroid features-hepatocellular carcinoma predisposition syndrome - - Disease - - - - - - - - 284343 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284343 - DICER1 tumor-predisposition syndrome - - Disease - - - - - - - - 568056 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=568056 - Warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome - - Disease - - - - - - - - 2198 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2198 - Palmoplantar keratoderma-esophageal carcinoma syndrome - - Disease - - - - - - - - 447961 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447961 - Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome - - Disease - - - - - - - - 661526 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=661526 - MBD4-related tumor predisposition syndrome - - Disease - - - - - - - - 664450 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=664450 - Inherited cancer-predisposing lymphoproliferative syndrome - - Category - - - - - - 695172 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=695172 - Combined immunodeficiency due to dimerization defective IKAROS mutation - - Disease - - - - - - - - 695807 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=695807 - Immunodeficiency-systemic inflammation-lymphoma predisposition syndrome - - Disease - - - - - - - - 542301 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=542301 - Combined immunodeficiency due to CARMIL2 deficiency - - Disease - - - - - - - - 538931 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=538931 - X-linked lymphoproliferative disease due to SAP deficiency - - Disease - - - - - - - - 540 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=540 - Familial hemophagocytic lymphohistiocytosis - - Disease - - - - - - - - 3453 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3453 - Autoimmune polyendocrinopathy type 1 - - Disease - - - - - - - - 3261 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3261 - Autoimmune lymphoproliferative syndrome - - Disease - - - - - - - - 268114 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268114 - RAS-associated autoimmune leukoproliferative disease - - Disease - - - - - - - - 306550 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306550 - FADD-related immunodeficiency - - Disease - - - - - - - - 391487 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391487 - STAT1-related autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome - - Disease - - - - - - - - 619948 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=619948 - Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome due to SOCS1 haploinsufficiency - - Disease - - - - - - - - 238505 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238505 - Combined immunodeficiency due to CD27 deficiency - - Disease - - - - - - - - 275523 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275523 - Dianzani autoimmune lymphoproliferative disease - - Disease - - - - - - - - 436159 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436159 - Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency - - Disease - - - - - - - - 438159 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=438159 - STAT3-related early-onset multisystem autoimmune disease - - Disease - - - - - - - - 538958 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=538958 - Combined immunodeficiency due to CD70 deficiency - - Disease - - - - - - - - 538963 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=538963 - Combined immunodeficiency due to ITK deficiency - - Disease - - - - - - - - 664711 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=664711 - EBV-induced lymphoproliferative disease due to PRKCD deficiency - - Disease - - - - - - - - 664699 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=664699 - EBV-induced lymphoproliferative disease due to RASGRP1 deficiency - - Disease - - - - - - - - 664726 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=664726 - EBV-induced lymphoproliferative disease due to CD137 deficiency - - Disease - - - - - - - - 664729 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=664729 - EBV-induced lymphoproliferative disease due to TET2 deficiency - - Disease - - - - - - - - 420573 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420573 - Severe combined immunodeficiency due to CTPS1 deficiency - - Disease - - - - - - - - 317476 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=317476 - XMEN - - Disease - - - - - - - - - - 692812 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=692812 - RAC2-related combined immunodeficiency-bronchiectasis-cancer-predisposing syndrome - - Disease - - - - - - - - 634518 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=634518 - Neurofibromatosis/schwannomatosis - - Category - - - - - - 93921 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93921 - Full schwannomatosis - - Disease - - - - - - - - 634461 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=634461 - Mosaic neurofibromatosis type 1 - - Disease - - - - - - - - 634475 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=634475 - Mosaic NF2-related schwannomatosis - - Disease - - - - - - - - 634492 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=634492 - Mosaic schwannomatosis - - Disease - - - - - - - - 636 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=636 - Neurofibromatosis type 1 - - Disease - - - - - - 97685 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97685 - 17q11 microdeletion syndrome - - Clinical subtype - - - - - - - - 363700 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363700 - Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion - - Etiological subtype - - - - - - - - - - 637 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=637 - Full NF2-related schwannomatosis - - Disease - - - - - - - - - - 589746 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589746 - Inherited gynecological cancer-predisposing syndrome - - Category - - - - - - 443909 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443909 - Hereditary nonpolyposis colon cancer - - Clinical group - - - - - - 144 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=144 - Lynch syndrome - - Disease - - - - - - - - 440437 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=440437 - Familial colorectal cancer Type X - - Disease - - - - - - - - - - 2869 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2869 - Peutz-Jeghers syndrome - - Disease - - - - - - - - 523 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=523 - Hereditary leiomyomatosis and renal cell cancer - - Disease - - - - - - - - 201 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=201 - Cowden syndrome - - Clinical subtype - - - - - - - - - - 619340 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=619340 - Inherited hematologic cancer-predisposing syndrome - - Category - - - - - - 648 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=648 - Noonan syndrome - - Malformation syndrome - - - - - - - - 500 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500 - Noonan syndrome with multiple lentigines - - Malformation syndrome - - - - - - - - 71290 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71290 - Familial platelet disorder with associated myeloid malignancy - - Disease - - - - - - - - 319465 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319465 - Inherited acute myeloid leukemia - - Disease - - - - - - - - 585877 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=585877 - B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality - - Etiological subtype - - - - - - 641375 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=641375 - B-lymphoblastic leukemia/lymphoma with t(17;19) - - Etiological subtype - - - - - - - - 585909 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=585909 - B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) - - Etiological subtype - - - - - - - - 585918 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=585918 - B-lymphoblastic leukemia/lymphoma with t(v;11q23.3) - - Etiological subtype - - - - - - - - 585929 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=585929 - B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1) - - Etiological subtype - - - - - - - - 585936 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=585936 - B-lymphoblastic leukemia/lymphoma with hyperdiploidy - - Etiological subtype - - - - - - - - 585942 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=585942 - B-lymphoblastic leukemia/lymphoma with hypodiploidy - - Etiological subtype - - - - - - - - 585948 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=585948 - B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3) - - Etiological subtype - - - - - - - - 585956 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=585956 - B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3) - - Etiological subtype - - - - - - - - 641372 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=641372 - B-lymphoblastic leukemia/lymphoma with t(7;9)(q11.2;p13.2) - - Etiological subtype - - - - - - - - - - 524 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=524 - Li-Fraumeni syndrome - - Disease - - - - - - - - 488647 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488647 - DDX41-related hematologic malignancy predisposition syndrome - - Disease - - - - - - - - - - - - 156601 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156601 - Rare genetic hepatic disease - - Category - - - - - - 2312 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2312 - Transient familial neonatal hyperbilirubinemia - - Disease - - - - - - - - 79124 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79124 - Hepatic veno-occlusive disease-immunodeficiency syndrome - - Disease - - - - - - - - 101940 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101940 - Rare metabolic liver disease - - Category - - - - - - 618899 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=618899 - Acid sphingomyelinase deficiency - - Clinical group - - - - - - 77292 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77292 - Infantile neurovisceral acid sphingomyelinase deficiency - - Disease - - - - - - - - 77293 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77293 - Chronic visceral acid sphingomyelinase deficiency - - Disease - - - - - - - - 618891 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=618891 - Chronic neurovisceral acid sphingomyelinase deficiency - - Disease - - - - - - - - - - 366 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=366 - Glycogen storage disease due to glycogen debranching enzyme deficiency - - Disease - - - - - - - - 79239 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79239 - Classic galactosemia - - Disease - - - - - - - - 397922 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397922 - Ferro-cerebro-cutaneous syndrome - - Disease - - - - - - - - 367 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=367 - Glycogen storage disease due to glycogen branching enzyme deficiency - - Disease - - - - - - 206583 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206583 - Adult polyglucosan body disease - - Clinical subtype - - - - - - - - 308621 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308621 - Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form - - Clinical subtype - - - - - - - - 308638 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308638 - Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form - - Clinical subtype - - - - - - - - 308655 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308655 - Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form - - Clinical subtype - - - - - - - - 308670 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308670 - Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form - - Clinical subtype - - - - - - - - 308684 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308684 - Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form - - Clinical subtype - - - - - - - - 308698 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308698 - Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form - - Clinical subtype - - - - - - - - 308712 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308712 - Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form - - Clinical subtype - - - - - - - - - - 369 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369 - Glycogen storage disease due to liver glycogen phosphorylase deficiency - - Disease - - - - - - - - 905 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=905 - Wilson disease - - Disease - - - - - - - - 60 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=60 - Alpha-1-antitrypsin deficiency - - Disease - - - - - - - - 205 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=205 - Crigler-Najjar syndrome - - Disease - - - - - - 79234 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79234 - Crigler-Najjar syndrome type 1 - - Clinical subtype - - - - - - - - 79235 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79235 - Crigler-Najjar syndrome type 2 - - Clinical subtype - - - - - - - - - - 79238 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79238 - Galactose epimerase deficiency - - Disease - - - - - - 308473 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308473 - Erythrocyte galactose epimerase deficiency - - Clinical subtype - - - - - - - - 308487 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308487 - Generalized galactose epimerase deficiency - - Clinical subtype - - - - - - - - - - 446 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=446 - Neonatal hemochromatosis - - Disease - - - - - - - - 469 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=469 - Hereditary fructose intolerance - - Disease - - - - - - - - 364 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=364 - Glycogen storage disease due to glucose-6-phosphatase deficiency - - Disease - - - - - - 79258 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79258 - Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia - - Clinical subtype - - - - - - - - 79259 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79259 - Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib - - Clinical subtype - - - - - - - - - - 234 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=234 - Dubin-Johnson syndrome - - Disease - - - - - - - - 3111 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3111 - Rotor syndrome - - Disease - - - - - - - - 3196 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3196 - Steroid dehydrogenase deficiency-dental anomalies syndrome - - Disease - - - - - - - - 882 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=882 - Tyrosinemia type 1 - - Disease - - - - - - - - 2088 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2088 - Fanconi-Bickel syndrome - - Disease - - - - - - - - 79189 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79189 - Peroxisome biogenesis disorder - - Clinical group - - - - - - 912 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=912 - Zellweger syndrome - - Disease - - - - - - - - 44 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=44 - Neonatal adrenoleukodystrophy - - Disease - - - - - - - - 772 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=772 - Infantile Refsum disease - - Disease - - - - - - - - - - 79240 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79240 - Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency - - Disease - - - - - - - - 254871 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254871 - Mitochondrial DNA depletion syndrome, hepatocerebral form - - Clinical group - - - - - - 1186 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1186 - Infantile-onset spinocerebellar ataxia - - Disease - - - - - - - - 726 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=726 - Alpers-Huttenlocher syndrome - - Disease - - - - - - - - 255229 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=255229 - Navajo neurohepatopathy - - Disease - - - - - - - - 279934 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=279934 - Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency - - Disease - - - - - - - - 363534 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363534 - Mitochondrial DNA depletion syndrome, hepatocerebrorenal form - - Disease - - - - - - - - - - 137681 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137681 - Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 - - Disease - - - - - - - - 139507 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139507 - Dietary iron overload disease - - Disease - - - - - - - - 217371 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217371 - Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins - - Disease - - - - - - - - 220489 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220489 - Rare hereditary hemochromatosis - - Category - - - - - - 465508 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=465508 - Symptomatic form of HFE-related hemochromatosis - - Disease - - - - - - - - 648569 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=648569 - Non-HFE-related hemochromatosis - - Clinical group - - - - - - 225123 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=225123 - TFR2-related hemochromatosis - - Disease - - - - - - - - 647834 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=647834 - SLC40A1-related hemochromatosis - - Disease - - - - - - - - 79230 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79230 - HJV or HAMP-related hemochromatosis - - Disease - - - - - - - - - - 648581 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=648581 - Digenic hemochromatosis - - Disease - - - - - - - - - - 247790 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247790 - FTH1-related iron overload - - Disease - - - - - - - - 264580 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=264580 - Glycogen storage disease due to liver phosphorylase kinase deficiency - - Disease - - - - - - - - 284385 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284385 - Familial intrahepatic cholestasis - - Category - - - - - - 172 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=172 - Progressive familial intrahepatic cholestasis - - Disease - - - - - - 79304 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79304 - Progressive familial intrahepatic cholestasis type 2 - - Clinical subtype - - - - - - - - 79305 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79305 - Progressive familial intrahepatic cholestasis type 3 - - Clinical subtype - - - - - - - - 79306 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79306 - Progressive familial intrahepatic cholestasis type 1 - - Clinical subtype - - - - - - - - 480483 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480483 - Progressive familial intrahepatic cholestasis type 4 - - Clinical subtype - - - - - - - - 480491 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480491 - MYO5B-related progressive familial intrahepatic cholestasis - - Clinical subtype - - - - - - - - 480476 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480476 - Progressive familial intrahepatic cholestasis type 5 - - Clinical subtype - - - - - - - - 168583 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168583 - Hereditary North American Indian childhood cirrhosis - - Clinical subtype - - - - - - - - - - 65682 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65682 - Benign recurrent intrahepatic cholestasis - - Disease - - - - - - 99960 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99960 - Benign recurrent intrahepatic cholestasis type 1 - - Clinical subtype - - - - - - - - 99961 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99961 - Benign recurrent intrahepatic cholestasis type 2 - - Clinical subtype - - - - - - - - - - 163631 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163631 - Bile acid synthesis defect with cholestasis and malabsorption - - Category - - - - - - 909 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=909 - Cerebrotendinous xanthomatosis - - Disease - - - - - - - - 485631 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=485631 - Congenital bile acid synthesis defect - - Clinical group - - - - - - 79095 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79095 - Congenital bile acid synthesis defect type 4 - - Disease - - - - - - - - 79301 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79301 - Congenital bile acid synthesis defect type 1 - - Disease - - - - - - - - 79302 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79302 - Congenital bile acid synthesis defect type 3 - - Disease - - - - - - - - 79303 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79303 - Congenital bile acid synthesis defect type 2 - - Disease - - - - - - - - - - 238475 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238475 - Familial hypercholanemia - - Disease - - - - - - - - 276066 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276066 - Bile acid CoA ligase deficiency and defective amidation - - Disease - - - - - - - - - - - - 309854 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309854 - Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome - - Disease - - - - - - - - 369942 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369942 - CADDS - - Disease - - - - - - - - 371157 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=371157 - Congenital disorder of glycosylation with hepatic involvement - - Category - - - - - - 79318 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79318 - PMM2-CDG - - Disease - - - - - - - - 79319 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79319 - MPI-CDG - - Disease - - - - - - - - 79325 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79325 - ALG8-CDG - - Disease - - - - - - - - 79326 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79326 - ALG2-CDG - - Disease - - - - - - - - 79328 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79328 - ALG9-CDG - - Disease - - - - - - - - 79330 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79330 - MOGS-CDG - - Disease - - - - - - - - 79332 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79332 - B4GALT1-CDG - - Disease - - - - - - - - 244310 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=244310 - RFT1-CDG - - Disease - - - - - - - - 263501 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263501 - COG4-CDG - - Disease - - - - - - - - 300536 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300536 - DDOST-CDG - - Disease - - - - - - - - 314667 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314667 - TMEM165-CDG - - Disease - - - - - - - - 319646 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319646 - PGM1-CDG - - Disease - - - - - - - - 324422 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324422 - ALG13-CDG - - Disease - - - - - - - - 329178 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329178 - Congenital muscular dystrophy with intellectual disability and severe epilepsy - - Disease - - - - - - - - 692790 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=692790 - ATP6AP1-CDG - - Disease - - - - - - - - - - 648562 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=648562 - Ferroportin disease - - Disease - - - - - - - - 275761 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275761 - Lysosomal acid lipase deficiency - - Disease - - - - - - 75233 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75233 - Wolman disease - - Clinical subtype - - - - - - - - 75234 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75234 - Cholesteryl ester storage disease - - Clinical subtype - - - - - - - - - - 659694 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=659694 - Hepatic porphyria - - Clinical group - - - - - - 95157 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95157 - Acute hepatic porphyria - - Clinical group - - - - - - 79273 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79273 - Hereditary coproporphyria - - Disease - - - - - - - - 79276 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79276 - Acute intermittent porphyria - - Disease - - - - - - - - 79473 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79473 - Variegate porphyria - - Disease - - - - - - - - 100924 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100924 - Porphyria due to ALA dehydratase deficiency - - Disease - - - - - - - - - - 659698 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=659698 - Hepatic cutaneous porphyria - - Clinical group - - - - - - 101330 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101330 - Porphyria cutanea tarda - - Disease - - - - - - 443057 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443057 - Sporadic porphyria cutanea tarda - - Clinical subtype - - - - - - - - 443062 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443062 - Familial porphyria cutanea tarda - - Clinical subtype - - - - - - - - - - - - - - 53693 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53693 - GRACILE syndrome - - Disease - - - - - - - - 254902 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254902 - Renal tubulopathy-encephalopathy-liver failure syndrome - - Disease - - - - - - - - 247585 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247585 - Citrullinemia type II - - Disease - - - - - - - - - - 156604 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156604 - Genetic parenchymatous liver disease - - Category - - - - - - 217371 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217371 - Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins - - Disease - - - - - - - - 440427 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=440427 - Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency - - Disease - - - - - - - - 1454 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1454 - Joubert syndrome with hepatic defect - - Disease - - - - - - - - 3032 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3032 - NPHP3-related Meckel-like syndrome - - Malformation syndrome - - - - - - - - 294415 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294415 - Renal-hepatic-pancreatic dysplasia - - Malformation syndrome - - - - - - - - 466794 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466794 - Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome - - Disease - - - - - - - - 464724 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464724 - Fever-associated acute infantile liver failure syndrome - - Disease - - - - - - - - 2031 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2031 - Hepatic fibrosis-renal cysts-intellectual disability syndrome - - Malformation syndrome - - - - - - - - 84064 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=84064 - Syndromic diarrhea - - Disease - - - - - - - - 300293 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300293 - Transient infantile hypertriglyceridemia and hepatosteatosis - - Disease - - - - - - - - 370088 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370088 - Acute infantile liver failure-multisystemic involvement syndrome - - Disease - - - - - - - - 391366 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391366 - Growth retardation-mild developmental delay-chronic hepatitis syndrome - - Disease - - - - - - - - 397922 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397922 - Ferro-cerebro-cutaneous syndrome - - Disease - - - - - - - - 731 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=731 - Autosomal recessive polycystic kidney disease - - Disease - - - - - - - - 541423 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=541423 - Growth delay-intellectual disability-hepatopathy syndrome - - Disease - - - - - - - - - - 156607 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156607 - Genetic biliary tract disease - - Category - - - - - - 2697 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2697 - Arthrogryposis-renal dysfunction-cholestasis syndrome - - Malformation syndrome - - - - - - - - 2924 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2924 - Isolated polycystic liver disease - - Malformation syndrome - - - - - - - - 52 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52 - Alagille syndrome - - Malformation syndrome - - - - - - 261600 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261600 - Alagille syndrome due to 20p12 microdeletion - - Etiological subtype - - - - - - - - 261619 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261619 - Alagille syndrome due to a JAG1 point mutation - - Etiological subtype - - - - - - - - 261629 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261629 - Alagille syndrome due to a NOTCH2 point mutation - - Etiological subtype - - - - - - - - - - 59303 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=59303 - Neonatal ichthyosis-sclerosing cholangitis syndrome - - Disease - - - - - - - - 69663 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69663 - Low phospholipid-associated cholelithiasis - - Disease - - - - - - - - 53035 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53035 - Caroli disease - - Malformation syndrome - - - - - - - - 480520 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480520 - Caroli syndrome - - Malformation syndrome - - - - - - - - 480556 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480556 - Isolated neonatal sclerosing cholangitis - - Disease - - - - - - - - 521432 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521432 - Congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome - - Disease - - - - - - - - 586 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=586 - Cystic fibrosis - - Disease - - - - - - - - - - 276405 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276405 - Hyperbiliverdinemia - - Disease - - - - - - - - 1414 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1414 - Cholestasis-lymphedema syndrome - - Disease - - - - - - - - - - 156610 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156610 - Rare genetic respiratory disease - - Category - - - - - - 692812 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=692812 - RAC2-related combined immunodeficiency-bronchiectasis-cancer-predisposing syndrome - - Disease - - - - - - - - 586 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=586 - Cystic fibrosis - - Disease - - - - - - - - 60 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=60 - Alpha-1-antitrypsin deficiency - - Disease - - - - - - - - 2903 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2903 - Familial spontaneous pneumothorax - - Disease - - - - - - - - 244 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=244 - Primary ciliary dyskinesia - - Disease - - - - - - - - 3471 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3471 - Young syndrome - - Disease - - - - - - - - 3167 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3167 - Siegler-Brewer-Carey syndrome - - Malformation syndrome - - - - - - - - 538 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=538 - Lymphangioleiomyomatosis - - Disease - - - - - - - - 422 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=422 - Idiopathic/heritable pulmonary arterial hypertension - - Disease - - - - - - 275766 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275766 - Idiopathic pulmonary arterial hypertension - - Etiological subtype - - - - - - - - 275777 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275777 - Heritable pulmonary arterial hypertension - - Etiological subtype - - - - - - - - - - 60025 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=60025 - Pulmonary alveolar microlithiasis - - Disease - - - - - - - - 60033 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=60033 - Idiopathic bronchiectasis - - Disease - - - - - - - - 168593 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168593 - Sudden infant death-dysgenesis of the testes syndrome - - Malformation syndrome - - - - - - - - 183622 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183622 - Genetic respiratory malformation - - Category - - - - - - 1928 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1928 - Congenital lobar emphysema - - Morphological anomaly - - - - - - - - 1120 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1120 - Lung agenesis-heart defect-thumb anomalies syndrome - - Malformation syndrome - - - - - - - - 2257 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2257 - Primary pulmonary hypoplasia - - Morphological anomaly - - - - - - - - 2407 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2407 - Laryngo-onycho-cutaneous syndrome - - Disease - - - - - - - - 2470 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2470 - Matthew-Wood syndrome - - Malformation syndrome - - - - - - - - 3035 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3035 - Growth delay-hydrocephaly-lung hypoplasia syndrome - - Malformation syndrome - - - - - - - - 3317 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3317 - Thoracolaryngopelvic dysplasia - - Malformation syndrome - - - - - - - - 774 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=774 - Hereditary hemorrhagic telangiectasia - - Disease - - - - - - - - - - 228426 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228426 - Syndromic multisystem autoimmune disease due to Itch deficiency - - Disease - - - - - - - - 247522 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247522 - Primary ciliary dyskinesia-retinitis pigmentosa syndrome - - Disease - - - - - - - - 264992 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=264992 - Genetic interstitial lung disease - - Category - - - - - - 621758 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=621758 - Fibrosis-neurodegeneration-cerebral angiomatosis syndrome - - Disease - - - - - - - - 2414 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2414 - Congenital pulmonary lymphangiectasia - - Disease - - - - - - - - 100049 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100049 - Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies - - Category - - - - - - 209905 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209905 - Brain-lung-thyroid syndrome - - Disease - - - - - - - - 217563 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217563 - Neonatal acute respiratory distress syndrome - - Disease - - - - - - - - 264675 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=264675 - Hereditary pulmonary alveolar proteinosis - - Disease - - - - - - - - 440402 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=440402 - Interstitial lung disease due to ABCA3 deficiency - - Disease - - - - - - - - 440427 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=440427 - Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency - - Disease - - - - - - - - 572428 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572428 - Infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia - - Disease - - - - - - - - - - 137631 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137631 - Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome - - Disease - - - - - - - - 210122 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210122 - Congenital alveolar capillary dysplasia - - Disease - - - - - - - - 217566 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217566 - Chronic respiratory distress with surfactant metabolism deficiency - - Disease - - - - - - - - 221043 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221043 - Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome - - Disease - - - - - - - - 306504 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306504 - Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome - - Disease - - - - - - - - 352629 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352629 - 16q24.1 microdeletion syndrome - - Disease - - - - - - - - 440392 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=440392 - Interstitial lung disease due to SP-C deficiency - - Disease - - - - - - - - 444092 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444092 - Autoimmune interstitial lung disease-arthritis syndrome - - Disease - - - - - - - - 618899 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=618899 - Acid sphingomyelinase deficiency - - Clinical group - - - - - - 77292 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77292 - Infantile neurovisceral acid sphingomyelinase deficiency - - Disease - - - - - - - - 77293 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77293 - Chronic visceral acid sphingomyelinase deficiency - - Disease - - - - - - - - 618891 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=618891 - Chronic neurovisceral acid sphingomyelinase deficiency - - Disease - - - - - - - - - - - - 431353 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=431353 - Pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis - - Category - - - - - - 31837 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=31837 - Pulmonary venoocclusive disease - - Disease - - - - - - - - 199241 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199241 - Pulmonary capillary hemangiomatosis - - Disease - - - - - - - - - - 425120 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=425120 - STING-associated vasculopathy with onset in infancy - - Disease - - - - - - - - 293987 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293987 - Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome - - Disease - - - - - - - - 505248 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=505248 - Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders - - Malformation syndrome - - - - - - - - 122 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=122 - Birt-Hogg-Dubé syndrome - - Malformation syndrome - - - - - - - - 99803 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99803 - Haddad syndrome - - Malformation syndrome - - - - - - - - 661 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=661 - Congenital central hypoventilation syndrome - - Disease - - - - - - - - - - 156619 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156619 - Rare genetic urogenital disease - - Category - - - - - - 1331 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1331 - Familial prostate cancer - - Disease - - - - - - - - 156622 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156622 - Genetic urogenital tract malformation - - Category - - - - - - 48 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=48 - Congenital bilateral absence of vas deferens - - Morphological anomaly - - - - - - - - 73217 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73217 - Müllerian aplasia - - Clinical group - - - - - - 180068 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180068 - Partial bilateral aplasia of the Müllerian ducts - - Clinical group - - - - - - 3109 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3109 - Mayer-Rokitansky-Küster-Hauser syndrome - - Malformation syndrome - - - - - - 2578 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2578 - Mayer-Rokitansky-Küster-Hauser syndrome type 2 - - Clinical subtype - - - - - - - - 247775 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247775 - Mayer-Rokitansky-Küster-Hauser syndrome type 1 - - Clinical subtype - - - - - - - - - - 247768 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247768 - Müllerian aplasia and hyperandrogenism - - Malformation syndrome - - - - - - - - - - 180071 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180071 - Unilateral aplasia of the Müllerian ducts - - Clinical group - - - - - - 180074 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180074 - True unicornuate uterus - - Morphological anomaly - - - - - - - - 180079 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180079 - Pseudounicornuate uterus - - Morphological anomaly - - - - - - - - - - - - 165707 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=165707 - Syndromic urogenital tract malformation - - Category - - - - - - 881 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=881 - Turner syndrome - - Malformation syndrome - - - - - - 99226 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99226 - Monosomy X syndrome - - Etiological subtype - - - - - - - - 99228 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99228 - Mosaic monosomy X syndrome - - Etiological subtype - - - - - - - - 99413 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99413 - Turner syndrome due to structural X chromosome anomalies - - Etiological subtype - - - - - - - - - - 138 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=138 - CHARGE syndrome - - Malformation syndrome - - - - - - - - 915 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=915 - Aarskog-Scott syndrome - - Malformation syndrome - - - - - - - - 1046 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1046 - Lethal hemolytic anemia-genital anomalies syndrome - - Malformation syndrome - - - - - - - - 444941 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444941 - Caudal regression-sirenomelia spectrum - - Clinical group - - - - - - 3169 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3169 - Sirenomelia - - Malformation syndrome - - - - - - - - 3027 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3027 - Caudal regression syndrome - - Malformation syndrome - - - - - - - - 1768 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1768 - Familial caudal dysgenesis - - Malformation syndrome - - - - - - - - - - 10 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=10 - 48,XXYY syndrome - - Malformation syndrome - - - - - - - - 3176 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3176 - Spina bifida-hypospadias syndrome - - Malformation syndrome - - - - - - - - 921 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=921 - Abruzzo-Erickson syndrome - - Malformation syndrome - - - - - - - - 1299 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1299 - Branchioskeletogenital syndrome - - Malformation syndrome - - - - - - - - 1974 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1974 - Autosomal recessive faciodigitogenital syndrome - - Malformation syndrome - - - - - - - - 2211 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2211 - Hypertelorism-hypospadias-polysyndactyly syndrome - - Malformation syndrome - - - - - - - - 2252 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2252 - Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome - - Malformation syndrome - - - - - - - - 2261 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2261 - Hypospadias-intellectual disability, Goldblatt type syndrome - - Malformation syndrome - - - - - - - - 2353 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2353 - Schilbach-Rott syndrome - - Malformation syndrome - - - - - - - - 2437 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2437 - Czeizel-Losonci syndrome - - Malformation syndrome - - - - - - - - 2487 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2487 - Lower limb malformation-hypospadias syndrome - - Malformation syndrome - - - - - - - - 2491 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2491 - Müllerian duct anomalies-limb anomalies syndrome - - Malformation syndrome - - - - - - - - 2669 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2669 - Nephrosis-deafness-urinary tract-digital malformations syndrome - - Malformation syndrome - - - - - - - - 2957 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2957 - Guttmacher syndrome - - Malformation syndrome - - - - - - - - 3224 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3224 - Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome - - Malformation syndrome - - - - - - - - 3341 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3341 - Torticollis-keloids-cryptorchidism-renal dysplasia syndrome - - Malformation syndrome - - - - - - - - 2745 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2745 - Opitz GBBB syndrome - - Malformation syndrome - - - - - - - - 3411 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3411 - Double uterus-hemivagina-renal agenesis syndrome - - Malformation syndrome - - - - - - - - 85173 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85173 - IMAGe syndrome - - Malformation syndrome - - - - - - - - 1655 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1655 - Müllerian derivatives-lymphangiectasia-polydactyly syndrome - - Malformation syndrome - - - - - - - - 96263 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96263 - 48,XXXY syndrome - - Malformation syndrome - - - - - - - - 96264 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96264 - 49,XXXXY syndrome - - Malformation syndrome - - - - - - - - 99329 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99329 - 48,XYYY syndrome - - Malformation syndrome - - - - - - - - 251071 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251071 - 8p23.1 microdeletion syndrome - - Malformation syndrome - - - - - - - - 423655 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423655 - ARX-related encephalopathy-brain malformation spectrum - - Clinical group - - - - - - 2508 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2508 - Corpus callosum agenesis-abnormal genitalia syndrome - - Malformation syndrome - - - - - - - - 452 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=452 - X-linked lissencephaly with abnormal genitalia - - Malformation syndrome - - - - - - - - - - 439897 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439897 - Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome - - Malformation syndrome - - - - - - - - 500135 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500135 - Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome - - Malformation syndrome - - - - - - - - 495875 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=495875 - Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome - - Malformation syndrome - - - - - - - - 567502 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=567502 - B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome - - Disease - - - - - - - - 684305 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=684305 - Neurooculocardiogenitourinary syndrome - - Disease - - - - - - - - 597749 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=597749 - KAT6B-related multiple congenital anomalies syndrome - - Clinical group - - - - - - 3047 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3047 - Blepharophimosis-intellectual disability syndrome, SBBYS type - - Malformation syndrome - - - - - - - - 85201 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85201 - Genitopatellar syndrome - - Malformation syndrome - - - - - - - - 597746 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=597746 - Blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome - - Malformation syndrome - - - - - - - - - - 597743 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=597743 - SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome - - Malformation syndrome - - - - - - - - - - 289365 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289365 - Familial vesicoureteral reflux - - Malformation syndrome - - - - - - - - 95706 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95706 - Non-syndromic posterior hypospadias - - Morphological anomaly - - - - - - - - - - 325690 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325690 - Genetic difference of sex development - - Category - - - - - - 325546 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325546 - Sex chromosome difference of sex development - - Category - - - - - - 881 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=881 - Turner syndrome - - Malformation syndrome - - - - - - 99226 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99226 - Monosomy X syndrome - - Etiological subtype - - - - - - - - 99228 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99228 - Mosaic monosomy X syndrome - - Etiological subtype - - - - - - - - 99413 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99413 - Turner syndrome due to structural X chromosome anomalies - - Etiological subtype - - - - - - - - - - 10 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=10 - 48,XXYY syndrome - - Malformation syndrome - - - - - - - - 1772 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1772 - 45,X/46,XY mixed gonadal dysgenesis - - Malformation syndrome - - - - - - - - 96263 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96263 - 48,XXXY syndrome - - Malformation syndrome - - - - - - - - 96264 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96264 - 49,XXXXY syndrome - - Malformation syndrome - - - - - - - - 199310 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199310 - Tetragametic chimerism syndrome - - Malformation syndrome - - - - - - - - - - 325697 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325697 - Genetic 46,XX difference of sex development - - Category - - - - - - 90776 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90776 - 46,XX difference of sex development induced by fetal androgens excess - - Category - - - - - - 786 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=786 - Generalized glucocorticoid resistance syndrome - - Disease - - - - - - - - 90791 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90791 - Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency - - Disease - - - - - - - - 90794 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90794 - Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency - - Disease - - - - - - 315306 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=315306 - Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form - - Clinical subtype - - - - - - - - 315311 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=315311 - Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form - - Clinical subtype - - - - - - - - - - 90795 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90795 - Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency - - Disease - - - - - - - - 95699 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95699 - Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency - - Disease - - - - - - - - 63269 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=63269 - Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis - - Clinical subtype - - - - - - - - - - 325055 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325055 - 46,XX disorder of gonadal development - - Category - - - - - - 243 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=243 - 46,XX gonadal dysgenesis - - Malformation syndrome - - - - - - - - 2138 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2138 - 46,XX ovotesticular difference of sex development - - Malformation syndrome - - - - - - - - 393 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=393 - 46,XX testicular difference of sex development - - Malformation syndrome - - - - - - - - 444048 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444048 - 46,XX ovarian dysgenesis-short stature syndrome - - Disease - - - - - - - - - - 325061 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325061 - 46,XX difference of sex development induced by fetoplacental androgens excess - - Category - - - - - - 91 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91 - Aromatase deficiency - - Disease - - - - - - - - - - 325109 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325109 - Syndrome with 46,XX difference of sex development - - Category - - - - - - 991 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=991 - PAGOD syndrome - - Malformation syndrome - - - - - - - - 2855 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2855 - Perrault syndrome - - Disease - - - - - - 642945 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642945 - Perrault syndrome type 1 - - Clinical subtype - - - - - - - - 642976 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642976 - Perrault syndrome type 2 - - Clinical subtype - - - - - - - - - - 2973 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2973 - 46,XX difference of sex development-anorectal anomalies syndrome - - Malformation syndrome - - - - - - - - 2975 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2975 - 46,XX difference of sex development-skeletal anomalies syndrome - - Malformation syndrome - - - - - - - - 85112 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85112 - Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome - - Disease - - - - - - - - 137631 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137631 - Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome - - Disease - - - - - - - - 139466 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139466 - SERKAL syndrome - - Malformation syndrome - - - - - - - - 247768 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247768 - Müllerian aplasia and hyperandrogenism - - Malformation syndrome - - - - - - - - - - - - 325706 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325706 - Genetic 46,XY difference of sex development - - Category - - - - - - 98087 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98087 - Syndrome with 46,XY difference of sex development - - Category - - - - - - 893 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=893 - WAGR syndrome - - Malformation syndrome - - - - - - - - 1642 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1642 - Distal deletion 9p syndrome - - Malformation syndrome - - - - - - - - 1770 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1770 - XY type gonadal dysgenesis-associated anomalies syndrome - - Malformation syndrome - - - - - - - - 2983 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2983 - Difference of sex development-intellectual disability syndrome - - Disease - - - - - - - - 1422 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1422 - Chondrodysplasia-difference of sex development syndrome - - Malformation syndrome - - - - - - - - 847 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=847 - X-linked alpha-thalassemia-intellectual disability syndrome - - Malformation syndrome - - - - - - - - 140 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140 - Campomelic dysplasia - - Malformation syndrome - - - - - - - - 991 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=991 - PAGOD syndrome - - Malformation syndrome - - - - - - - - 2282 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2282 - Dysmorphism-short stature-deafness-difference of sex development syndrome - - Malformation syndrome - - - - - - - - 3097 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3097 - Meacham syndrome - - Malformation syndrome - - - - - - - - 220 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220 - Denys-Drash syndrome - - Disease - - - - - - - - 347 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=347 - Frasier syndrome - - Disease - - - - - - - - 452 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=452 - X-linked lissencephaly with abnormal genitalia - - Malformation syndrome - - - - - - - - 95700 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95700 - Familial adrenal hypoplasia with absent pituitary luteinizing hormone - - Disease - - - - - - - - 168563 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168563 - 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome - - Malformation syndrome - - - - - - - - 168593 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168593 - Sudden infant death-dysgenesis of the testes syndrome - - Malformation syndrome - - - - - - - - 456328 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=456328 - X-linked myotubular myopathy-abnormal genitalia syndrome - - Disease - - - - - - - - 494433 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=494433 - MIRAGE syndrome - - Disease - - - - - - - - 2075 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2075 - Genitopalatocardiac syndrome - - Malformation syndrome - - - - - - - - - - 325118 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325118 - 46,XY disorder of gonadal development - - Category - - - - - - 242 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=242 - 46,XY complete gonadal dysgenesis - - Malformation syndrome - - - - - - - - 983 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=983 - Testicular regression syndrome - - Morphological anomaly - - - - - - - - 251510 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251510 - 46,XY partial gonadal dysgenesis - - Malformation syndrome - - - - - - - - 325124 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325124 - Testicular agenesis - - Morphological anomaly - - - - - - - - 325345 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325345 - 46,XY ovotesticular difference of sex development - - Disease - - - - - - - - - - 325713 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325713 - Genetic 46,XY difference of sex development of endocrine origin - - Category - - - - - - 754 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=754 - Androgen insensitivity syndrome - - Clinical group - - - - - - 90797 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90797 - Partial androgen insensitivity syndrome - - Disease - - - - - - - - 99429 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99429 - Complete androgen insensitivity syndrome - - Disease - - - - - - - - - - 325357 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325357 - 46,XY difference of sex development due to impaired androgen production - - Category - - - - - - 755 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=755 - Leydig cell hypoplasia - - Disease - - - - - - 96265 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96265 - Leydig cell hypoplasia due to complete LH resistance - - Clinical subtype - - - - - - - - 96266 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96266 - Leydig cell hypoplasia due to partial LH resistance - - Clinical subtype - - - - - - - - 325448 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325448 - Leydig cell hypoplasia due to LHB deficiency - - Clinical subtype - - - - - - - - - - 90783 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90783 - 46,XY difference of sex development due to a testosterone synthesis defect - - Category - - - - - - 90786 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90786 - 46,XY difference of sex development due to adrenal and testicular steroidogenesis defect - - Category - - - - - - 90790 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90790 - Congenital lipoid adrenal hyperplasia due to STAR deficency - - Disease - - - - - - 325524 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325524 - Classic congenital lipoid adrenal hyperplasia due to STAR deficency - - Clinical subtype - - - - - - - - 325529 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325529 - Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency - - Clinical subtype - - - - - - - - - - 90791 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90791 - Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency - - Disease - - - - - - - - 90793 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90793 - Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency - - Disease - - - - - - - - 95699 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95699 - Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency - - Disease - - - - - - - - 168558 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168558 - 46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency - - Disease - - - - - - - - 63269 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=63269 - Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis - - Clinical subtype - - - - - - - - - - 90787 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90787 - 46,XY difference of sex development due to testicular steroidogenesis defect - - Category - - - - - - 752 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=752 - 46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency - - Disease - - - - - - - - 90796 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90796 - 46,XY difference of sex development due to isolated 17,20-lyase deficiency - - Disease - - - - - - - - - - 325511 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325511 - 46,XY difference of sex development due to a cholesterol synthesis defect - - Category - - - - - - 818 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=818 - Smith-Lemli-Opitz syndrome - - Malformation syndrome - - - - - - - - - - - - 98086 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98086 - 46,XY difference of sex development due to a defect in testosterone metabolism by peripheral tissue - - Category - - - - - - 753 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=753 - 46,XY difference of sex development due to 5-alpha-reductase 2 deficiency - - Disease - - - - - - - - - - 443090 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443090 - 46,XY difference of sexual development due to dihydrotestosterone backdoor pathway biosynthesis defect - - Category - - - - - - 443087 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443087 - 46,XY difference of sex development due to testicular 17,20-desmolase deficiency - - Disease - - - - - - - - - - - - - - - - - - 404463 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404463 - Multisystemic smooth muscle dysfunction syndrome - - Disease - - - - - - - - - - 156638 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156638 - Rare genetic endocrine disease - - Category - - - - - - 485382 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=485382 - Rare genetic premature ovarian failure - - Category - - - - - - 881 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=881 - Turner syndrome - - Malformation syndrome - - - - - - 99226 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99226 - Monosomy X syndrome - - Etiological subtype - - - - - - - - 99228 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99228 - Mosaic monosomy X syndrome - - Etiological subtype - - - - - - - - 99413 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99413 - Turner syndrome due to structural X chromosome anomalies - - Etiological subtype - - - - - - - - - - 100 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100 - Ataxia-telangiectasia - - Disease - - - - - - - - 572354 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572354 - Blepharophimosis-ptosis-epicanthus inversus syndrome type 1 - - Clinical subtype - - - - - - - - 9 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=9 - Tetrasomy X syndrome - - Malformation syndrome - - - - - - - - 243 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=243 - 46,XX gonadal dysgenesis - - Malformation syndrome - - - - - - - - 3375 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3375 - Trisomy X syndrome - - Malformation syndrome - - - - - - - - 2855 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2855 - Perrault syndrome - - Disease - - - - - - 642945 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642945 - Perrault syndrome type 1 - - Clinical subtype - - - - - - - - 642976 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642976 - Perrault syndrome type 2 - - Clinical subtype - - - - - - - - - - 91 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91 - Aromatase deficiency - - Disease - - - - - - - - 75325 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75325 - Osteosclerosis-ichthyosis-premature ovarian failure syndrome - - Disease - - - - - - - - 79239 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79239 - Classic galactosemia - - Disease - - - - - - - - 90790 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90790 - Congenital lipoid adrenal hyperplasia due to STAR deficency - - Disease - - - - - - 325524 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325524 - Classic congenital lipoid adrenal hyperplasia due to STAR deficency - - Clinical subtype - - - - - - - - 325529 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325529 - Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency - - Clinical subtype - - - - - - - - - - 90793 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90793 - Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency - - Disease - - - - - - - - 96201 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96201 - X small rings syndrome - - Malformation syndrome - - - - - - - - 436182 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436182 - Microcephalic primordial dwarfism-insulin resistance syndrome - - Malformation syndrome - - - - - - - - 444048 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444048 - 46,XX ovarian dysgenesis-short stature syndrome - - Disease - - - - - - - - 642691 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642691 - Fragile X-associated primary ovarian insufficiency - - Disease - - - - - - - - - - 785 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=785 - Estrogen resistance syndrome - - Disease - - - - - - - - 77828 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77828 - Genetic obesity - - Category - - - - - - 98267 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98267 - Genetic non-syndromic obesity - - Disease - - - - - - 66628 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66628 - Obesity due to congenital leptin deficiency - - Etiological subtype - - - - - - - - 179490 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=179490 - Obesity due to congenital leptin resistance - - Etiological subtype - - - - - - 71526 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71526 - Obesity due to pro-opiomelanocortin deficiency - - Etiological subtype - - - - - - - - 71528 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71528 - Obesity due to prohormone convertase I deficiency - - Etiological subtype - - - - - - - - 71529 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71529 - Obesity due to melanocortin 4 receptor deficiency - - Etiological subtype - - - - - - - - 179494 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=179494 - Obesity due to leptin receptor gene deficiency - - Etiological subtype - - - - - - - - - - 329249 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329249 - Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency - - Etiological subtype - - - - - - - - 369873 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369873 - Obesity due to SIM1 deficiency - - Etiological subtype - - - - - - - - 397615 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397615 - Obesity due to CEP19 deficiency - - Etiological subtype - - - - - - - - - - 240371 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=240371 - Syndromic obesity - - Category - - - - - - 819 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=819 - Smith-Magenis syndrome - - Malformation syndrome - - - - - - - - 908 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=908 - Fragile X syndrome - - Malformation syndrome - - - - - - - - 739 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=739 - Prader-Willi syndrome - - Disease - - - - - - 98754 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98754 - Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 - - Etiological subtype - - - - - - - - 98793 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98793 - Prader-Willi syndrome due to paternal 15q11q13 deletion - - Etiological subtype - - - - - - 177901 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=177901 - Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 - - Etiological subtype - - - - - - - - 177904 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=177904 - Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 - - Etiological subtype - - - - - - - - - - 177907 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=177907 - Prader-Willi syndrome due to translocation - - Etiological subtype - - - - - - - - 177910 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=177910 - Prader-Willi syndrome due to imprinting mutation - - Etiological subtype - - - - - - - - - - 783 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=783 - Rubinstein-Taybi syndrome - - Malformation syndrome - - - - - - 353277 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353277 - Rubinstein-Taybi syndrome due to CREBBP mutations - - Etiological subtype - - - - - - - - 353281 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353281 - Rubinstein-Taybi syndrome due to 16p13.3 microdeletion - - Etiological subtype - - - - - - - - 353284 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353284 - Rubinstein-Taybi syndrome due to EP300 haploinsufficiency - - Etiological subtype - - - - - - - - - - 893 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=893 - WAGR syndrome - - Malformation syndrome - - - - - - - - 192 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=192 - Coffin-Lowry syndrome - - Malformation syndrome - - - - - - - - 193 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=193 - Cohen syndrome - - Malformation syndrome - - - - - - - - 276630 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276630 - Symptomatic form of Coffin-Lowry syndrome in female carriers - - Malformation syndrome - - - - - - - - 457059 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457059 - Pseudohypoparathyroidism with Albright hereditary osteodystrophy - - Clinical group - - - - - - 79443 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79443 - Pseudohypoparathyroidism type 1A - - Disease - - - - - - - - 79444 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79444 - Pseudohypoparathyroidism type 1C - - Disease - - - - - - - - 79445 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79445 - Pseudopseudohypoparathyroidism - - Disease - - - - - - - - - - 64 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64 - Alström syndrome - - Disease - - - - - - - - 127 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=127 - Borjeson-Forssman-Lehmann syndrome - - Malformation syndrome - - - - - - - - 1435 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1435 - Xq21 microdeletion syndrome - - Malformation syndrome - - - - - - - - 2563 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2563 - MOMO syndrome - - Malformation syndrome - - - - - - - - 3459 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3459 - Wilson-Turner syndrome - - Malformation syndrome - - - - - - - - 2183 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2183 - Hydrocephalus-obesity-hypogonadism syndrome - - Malformation syndrome - - - - - - - - 110 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=110 - Bardet-Biedl syndrome - - Disease - - - - - - - - 2637 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2637 - Microcephalic osteodysplastic primordial dwarfism type II - - Malformation syndrome - - - - - - - - 65759 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65759 - Carpenter syndrome - - Malformation syndrome - - - - - - - - 75858 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75858 - MORM syndrome - - Disease - - - - - - - - 85282 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85282 - MEHMO syndrome - - Malformation syndrome - - - - - - - - 261222 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261222 - Distal 16p11.2 microdeletion syndrome - - Malformation syndrome - - - - - - - - 293987 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293987 - Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome - - Disease - - - - - - - - 352530 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352530 - Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome - - Disease - - - - - - - - 363741 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363741 - Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome - - Disease - - - - - - - - 369950 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369950 - Intellectual disability-seizures-macrocephaly-obesity syndrome - - Disease - - - - - - - - 397973 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397973 - Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome - - Disease - - - - - - - - 398073 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398073 - Prader-Willi-like syndrome - - Clinical group - - - - - - 633028 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=633028 - CPE-related Prader-Willi-like syndrome - - Disease - - - - - - - - 171829 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171829 - 6q16 microdeletion syndrome - - Disease - - - - - - - - 398079 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398079 - SIM1-related Prader-Willi-like syndrome - - Disease - - - - - - - - 398069 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398069 - Schaaf-Yang syndrome - - Disease - - - - - - - - - - 444077 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444077 - Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome - - Malformation syndrome - - - - - - - - 99704 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99704 - Early-onset obesity-hyperphagia-severe developmental delay syndrome - - Disease - - - - - - - - 254516 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254516 - Temple syndrome - - Malformation syndrome - - - - - - 96184 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96184 - Temple syndrome due to maternal uniparental disomy of chromosome 14 - - Etiological subtype - - - - - - - - 254525 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254525 - Temple syndrome due to paternal 14q32.2 microdeletion - - Etiological subtype - - - - - - - - 254531 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254531 - Temple syndrome due to paternal 14q32.2 hypomethylation - - Etiological subtype - - - - - - - - - - 521390 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521390 - Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome - - Malformation syndrome - - - - - - - - 589905 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589905 - PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome - - Disease - - - - - - - - 464288 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464288 - Short stature-brachydactyly-obesity-global developmental delay syndrome - - Malformation syndrome - - - - - - - - 652487 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=652487 - Developmental delay-overweight-facial dysmorphism-behavioral abnormalities syndrome - - Malformation syndrome - - - - - - - - 620363 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=620363 - Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome - - Disease - - - - - - - - 600731 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=600731 - Clark-Baraitser syndrome - - Malformation syndrome - - - - - - - - 647799 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=647799 - MYT1L-related developmental delay-intellectual disability-obesity syndrome - - Disease - - - - - - - - - - - - 98305 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98305 - Genetic lipodystrophy - - Category - - - - - - 324977 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324977 - Proteasome-associated autoinflammatory syndrome - - Disease - - - - - - - - 528 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=528 - Congenital generalized lipodystrophy - - Disease - - - - - - 696289 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=696289 - Congenital generalized lipodystrophy type 2 - - Clinical subtype - - - - - - - - 696242 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=696242 - PPARG-associated congenital generalized lipodystrophy - - Clinical subtype - - - - - - - - 696206 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=696206 - Congenital generalized lipodystrophy type 3 - - Clinical subtype - - - - - - - - 696189 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=696189 - Congenital generalized lipodystrophy type 1 - - Clinical subtype - - - - - - - - 228429 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228429 - Congenital generalized lipodystrophy type 4 - - Clinical subtype - - - - - - - - - - 1979 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1979 - Lipodystrophy due to peptidic growth factors deficiency - - Disease - - - - - - - - 2457 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2457 - Mandibuloacral dysplasia - - Malformation syndrome - - - - - - 90153 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90153 - Mandibuloacral dysplasia with type A lipodystrophy - - Clinical subtype - - - - - - - - 90154 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90154 - Mandibuloacral dysplasia with type B lipodystrophy - - Clinical subtype - - - - - - - - - - 3163 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3163 - SHORT syndrome - - Malformation syndrome - - - - - - - - 3455 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3455 - Wiedemann-Rautenstrauch syndrome - - Malformation syndrome - - - - - - - - 50811 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50811 - Lipodystrophy-intellectual disability-deafness syndrome - - Disease - - - - - - - - 98306 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98306 - Familial partial lipodystrophy - - Clinical group - - - - - - 2348 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2348 - Familial partial lipodystrophy, Dunnigan type - - Disease - - - - - - - - 79083 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79083 - PPARG-related familial partial lipodystrophy - - Disease - - - - - - - - 79084 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79084 - Familial partial lipodystrophy, Köbberling type - - Disease - - - - - - - - 79085 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79085 - AKT2-related familial partial lipodystrophy - - Disease - - - - - - - - 280356 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280356 - PLIN1-related familial partial lipodystrophy - - Disease - - - - - - - - 280365 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280365 - Autosomal semi-dominant severe lipodystrophic laminopathy - - Disease - - - - - - - - 435651 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435651 - CIDEC-related familial partial lipodystrophy - - Disease - - - - - - - - 435660 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435660 - LIPE-related familial partial lipodystrophy - - Disease - - - - - - - - - - 363400 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363400 - Progressive encephalopathy-severe neurodegeneration-lipodystrophy syndrome - - Disease - - - - - - - - 435628 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435628 - Keppen-Lubinsky syndrome - - Malformation syndrome - - - - - - - - 686999 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=686999 - Lipodystrophy-demyelinating peripheral sensory-motor neuropathy syndrome - - Disease - - - - - - - - 363649 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363649 - Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome - - Disease - - - - - - - - 280576 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280576 - Nestor-Guillermo progeria syndrome - - Malformation syndrome - - - - - - - - - - 101953 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101953 - Rare dyslipidemia - - Category - - - - - - 181422 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=181422 - Rare hyperlipidemia - - Category - - - - - - 412 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=412 - Dysbetalipoproteinemia - - Disease - - - - - - - - 181428 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=181428 - Familial Hyperalphalipoproteinemia - - Biological anomaly - - - - - - - - 444490 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444490 - Familial chylomicronemia syndrome - - Disease - - - - - - 309015 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309015 - Familial lipoprotein lipase deficiency - - Etiological subtype - - - - - - - - 309020 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309020 - Familial apolipoprotein C-II deficiency - - Etiological subtype - - - - - - - - 535453 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=535453 - Familial lipase maturation factor 1 deficiency - - Etiological subtype - - - - - - - - 535458 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=535458 - Familial GPIHBP1 deficiency - - Etiological subtype - - - - - - - - 530849 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=530849 - Familial apolipoprotein A5 deficiency - - Etiological subtype - - - - - - - - - - 140905 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140905 - Hyperlipidemia due to hepatic triacylglycerol lipase deficiency - - Disease - - - - - - - - 477811 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477811 - Rare hypercholesterolemia - - Category - - - - - - 209902 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209902 - Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency - - Disease - - - - - - - - 391665 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391665 - Homozygous familial hypercholesterolemia - - Disease - - - - - - - - 466703 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466703 - TMEM199-CDG - - Disease - - - - - - - - 468684 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=468684 - CCDC115-CDG - - Disease - - - - - - - - 77293 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77293 - Chronic visceral acid sphingomyelinase deficiency - - Disease - - - - - - - - 618891 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=618891 - Chronic neurovisceral acid sphingomyelinase deficiency - - Disease - - - - - - - - - - - - 181431 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=181431 - Rare hypolipidemia - - Category - - - - - - 31153 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=31153 - Hypoalphalipoproteinemia - - Clinical group - - - - - - 650 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=650 - LCAT deficiency - - Disease - - - - - - 79292 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79292 - Fish-eye disease - - Clinical subtype - - - - - - - - 79293 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79293 - Familial LCAT deficiency - - Clinical subtype - - - - - - - - - - 425 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=425 - Apolipoprotein A-I deficiency - - Disease - - - - - - - - 31150 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=31150 - Tangier disease - - Disease - - - - - - - - - - 31154 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=31154 - Hypobetalipoproteinemia - - Clinical group - - - - - - 14 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=14 - Abetalipoproteinemia - - Disease - - - - - - - - 71 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71 - Chylomicron retention disease - - Disease - - - - - - - - - - - - 181437 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=181437 - Rare syndromic dyslipidemia - - Category - - - - - - 909 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=909 - Cerebrotendinous xanthomatosis - - Disease - - - - - - - - 2882 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2882 - Sitosterolemia - - Disease - - - - - - - - 275761 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275761 - Lysosomal acid lipase deficiency - - Disease - - - - - - 75233 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75233 - Wolman disease - - Clinical subtype - - - - - - - - 75234 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75234 - Cholesteryl ester storage disease - - Clinical subtype - - - - - - - - - - 329481 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329481 - Lipoprotein glomerulopathy - - Disease - - - - - - - - - - - - 156643 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156643 - Genetic endocrine growth disease - - Category - - - - - - 418 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=418 - Congenital adrenal hyperplasia - - Clinical group - - - - - - 90790 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90790 - Congenital lipoid adrenal hyperplasia due to STAR deficency - - Disease - - - - - - 325524 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325524 - Classic congenital lipoid adrenal hyperplasia due to STAR deficency - - Clinical subtype - - - - - - - - 325529 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325529 - Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency - - Clinical subtype - - - - - - - - - - 90791 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90791 - Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency - - Disease - - - - - - - - 90793 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90793 - Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency - - Disease - - - - - - - - 90794 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90794 - Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency - - Disease - - - - - - 315306 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=315306 - Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form - - Clinical subtype - - - - - - - - 315311 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=315311 - Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form - - Clinical subtype - - - - - - - - - - 90795 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90795 - Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency - - Disease - - - - - - - - 95699 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95699 - Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency - - Disease - - - - - - - - 63269 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=63269 - Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis - - Clinical subtype - - - - - - - - - - 54595 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=54595 - Craniopharyngioma - - Disease - - - - - - - - 95488 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95488 - Non-acquired pituitary hormone deficiency - - Category - - - - - - 631 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=631 - Non-acquired isolated growth hormone deficiency - - Disease - - - - - - 629 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=629 - Short stature due to growth hormone qualitative anomaly - - Clinical subtype - - - - - - - - 231662 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231662 - Isolated growth hormone deficiency type IA - - Clinical subtype - - - - - - - - 231671 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231671 - Isolated growth hormone deficiency type IB - - Clinical subtype - - - - - - - - 231679 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231679 - Isolated growth hormone deficiency type II - - Clinical subtype - - - - - - - - 231692 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231692 - Isolated growth hormone deficiency type III - - Clinical subtype - - - - - - 632 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=632 - Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia - - Clinical subtype - - - - - - - - 67045 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=67045 - X-linked intellectual disability with isolated growth hormone deficiency - - Clinical subtype - - - - - - - - - - 684247 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=684247 - Isolated growth hormone deficiency type IV - - Clinical subtype - - - - - - - - - - 467 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=467 - Non-acquired combined pituitary hormone deficiency - - Category - - - - - - 95495 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95495 - Disease associated with non-acquired combined pituitary hormone deficiency - - Category - - - - - - 2162 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2162 - Holoprosencephaly - - Malformation syndrome - - - - - - 93924 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93924 - Lobar holoprosencephaly - - Clinical subtype - - - - - - - - 93925 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93925 - Alobar holoprosencephaly - - Clinical subtype - - - - - - - - 93926 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93926 - Midline interhemispheric variant of holoprosencephaly - - Clinical subtype - - - - - - - - 220386 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220386 - Semilobar holoprosencephaly - - Clinical subtype - - - - - - - - 280195 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280195 - Septopreoptic holoprosencephaly - - Clinical subtype - - - - - - - - - - 672 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=672 - Pallister-Hall syndrome - - Malformation syndrome - - - - - - - - 2315 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2315 - Johanson-Blizzard syndrome - - Malformation syndrome - - - - - - - - 3157 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3157 - Septo-optic dysplasia spectrum - - Malformation syndrome - - - - - - - - 782 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=782 - Axenfeld-Rieger syndrome - - Malformation syndrome - - - - - - - - 77298 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77298 - Anophthalmia/microphthalmia-esophageal atresia syndrome - - Malformation syndrome - - - - - - - - 85442 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85442 - Short stature-pituitary and cerebellar defects-small sella turcica syndrome - - Disease - - - - - - - - 157954 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157954 - ANE syndrome - - Disease - - - - - - - - 231720 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231720 - Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome - - Malformation syndrome - - - - - - - - 293978 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293978 - Deficiency in anterior pituitary function-variable immunodeficiency syndrome - - Disease - - - - - - - - 420584 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420584 - Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome - - Malformation syndrome - - - - - - - - - - 178025 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178025 - Non-acquired combined pituitary hormone deficiencies without extrapituitary malformations - - Category - - - - - - 90695 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90695 - Non-acquired panhypopituitarism - - Disease - - - - - - - - 95494 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95494 - Combined pituitary hormone deficiencies, genetic forms - - Disease - - - - - - - - - - - - 90674 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90674 - Isolated thyroid-stimulating hormone deficiency - - Disease - - - - - - - - 95496 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95496 - Pituitary stalk interruption syndrome - - Morphological anomaly - - - - - - - - 174590 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=174590 - Congenital hypogonadotropic hypogonadism - - Category - - - - - - 181387 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=181387 - Rare disorder with multisystemic involvement and congenital hypogonadotropic hypogonadism - - Category - - - - - - 138 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=138 - CHARGE syndrome - - Malformation syndrome - - - - - - - - 739 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=739 - Prader-Willi syndrome - - Disease - - - - - - 98754 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98754 - Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 - - Etiological subtype - - - - - - - - 98793 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98793 - Prader-Willi syndrome due to paternal 15q11q13 deletion - - Etiological subtype - - - - - - 177901 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=177901 - Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 - - Etiological subtype - - - - - - - - 177904 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=177904 - Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 - - Etiological subtype - - - - - - - - - - 177907 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=177907 - Prader-Willi syndrome due to translocation - - Etiological subtype - - - - - - - - 177910 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=177910 - Prader-Willi syndrome due to imprinting mutation - - Etiological subtype - - - - - - - - - - 2377 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2377 - Laurence-Moon syndrome - - Malformation syndrome - - - - - - - - 1173 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1173 - Cerebellar ataxia-hypogonadism syndrome - - Disease - - - - - - - - 1180 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1180 - Ataxia-hypogonadism-choroidal dystrophy syndrome - - Disease - - - - - - - - 1387 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1387 - Cataract-intellectual disability-hypogonadism syndrome - - Malformation syndrome - - - - - - - - 2230 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2230 - Hypogonadotropic hypogonadism-frontoparietal alopecia syndrome - - Disease - - - - - - - - 2235 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2235 - Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome - - Disease - - - - - - - - 2250 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2250 - Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome - - Disease - - - - - - - - 2560 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2560 - Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome - - Malformation syndrome - - - - - - - - 3464 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3464 - Woodhouse-Sakati syndrome - - Disease - - - - - - - - 2326 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2326 - Kallmann syndrome-heart disease syndrome - - Malformation syndrome - - - - - - - - 110 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=110 - Bardet-Biedl syndrome - - Disease - - - - - - - - 88637 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88637 - Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome - - Clinical subtype - - - - - - - - 157954 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157954 - ANE syndrome - - Disease - - - - - - - - 293967 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293967 - Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome - - Malformation syndrome - - - - - - - - 398073 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398073 - Prader-Willi-like syndrome - - Clinical group - - - - - - 633028 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=633028 - CPE-related Prader-Willi-like syndrome - - Disease - - - - - - - - 171829 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171829 - 6q16 microdeletion syndrome - - Disease - - - - - - - - 398079 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398079 - SIM1-related Prader-Willi-like syndrome - - Disease - - - - - - - - 398069 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398069 - Schaaf-Yang syndrome - - Disease - - - - - - - - - - 1295 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1295 - Brachytelephalangy-dysmorphism-Kallmann syndrome - - Malformation syndrome - - - - - - - - 453533 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=453533 - Polyendocrine-polyneuropathy syndrome - - Disease - - - - - - - - - - 181390 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=181390 - Endocrinopathy with congenital hypogonadotropic hypogonadism as a major feature - - Category - - - - - - 66628 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66628 - Obesity due to congenital leptin deficiency - - Etiological subtype - - - - - - - - 71528 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71528 - Obesity due to prohormone convertase I deficiency - - Etiological subtype - - - - - - - - 90695 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90695 - Non-acquired panhypopituitarism - - Disease - - - - - - - - 95494 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95494 - Combined pituitary hormone deficiencies, genetic forms - - Disease - - - - - - - - 95700 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95700 - Familial adrenal hypoplasia with absent pituitary luteinizing hormone - - Disease - - - - - - - - 95702 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95702 - X-linked adrenal hypoplasia congenita - - Disease - - - - - - - - 179494 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=179494 - Obesity due to leptin receptor gene deficiency - - Etiological subtype - - - - - - - - - - 238666 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238666 - Isolated congenital hypogonadotropic hypogonadism - - Disease - - - - - - 478 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=478 - Kallmann syndrome - - Clinical subtype - - - - - - - - 432 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=432 - Normosmic congenital hypogonadotropic hypogonadism - - Clinical subtype - - - - - - - - - - 52901 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52901 - Isolated follicle stimulating hormone deficiency - - Disease - - - - - - - - - - 199296 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199296 - Congenital isolated ACTH deficiency - - Disease - - - - - - - - 314811 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314811 - Short stature due to GHSR deficiency - - Disease - - - - - - - - - - 95709 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95709 - Rare acquired premature ovarian failure - - Category - - - - - - 3143 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3143 - Autoimmune polyendocrinopathy type 2 - - Disease - - - - - - - - 3453 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3453 - Autoimmune polyendocrinopathy type 1 - - Disease - - - - - - - - - - 435554 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435554 - Genetic precocious puberty - - Category - - - - - - 178040 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178040 - Rare peripheral precocious puberty - - Category - - - - - - 562 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=562 - McCune-Albright syndrome - - Disease - - - - - - - - 3000 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3000 - Familial peripheral male-limited precocious puberty - - Disease - - - - - - - - 178345 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178345 - Aromatase excess syndrome - - Disease - - - - - - - - - - 650182 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=650182 - Genetic central precocious puberty - - Clinical group - - - - - - 650097 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=650097 - Genetic central precocious puberty in male - - Clinical subtype - - - - - - - - 650077 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=650077 - Genetic central precocious puberty in female - - Disease - - - - - - - - - - - - 181393 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=181393 - Growth hormone insensitivity syndrome - - Category - - - - - - 633 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=633 - Laron syndrome - - Disease - - - - - - - - 73272 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73272 - Growth delay due to insulin-like growth factor type 1 deficiency - - Disease - - - - - - - - 73273 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73273 - Growth delay due to insulin-like growth factor I resistance - - Disease - - - - - - - - 140941 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140941 - Short stature due to primary acid-labile subunit deficiency - - Disease - - - - - - - - 220465 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220465 - Laron syndrome with immunodeficiency - - Disease - - - - - - - - 314802 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314802 - Short stature due to partial GHR deficiency - - Disease - - - - - - - - - - 226292 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=226292 - Permanent congenital hypothyroidism - - Category - - - - - - 177107 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=177107 - Syndromic hypothyroidism - - Category - - - - - - 597746 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=597746 - Blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome - - Malformation syndrome - - - - - - - - 2321 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2321 - Jung syndrome - - Malformation syndrome - - - - - - - - 705 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=705 - Pendred syndrome - - Malformation syndrome - - - - - - - - 1226 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1226 - Bamforth-Lazarus syndrome - - Malformation syndrome - - - - - - - - 1882 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1882 - Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome - - Malformation syndrome - - - - - - - - 2315 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2315 - Johanson-Blizzard syndrome - - Malformation syndrome - - - - - - - - 3047 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3047 - Blepharophimosis-intellectual disability syndrome, SBBYS type - - Malformation syndrome - - - - - - - - 2349 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2349 - Muscular pseudohypertrophy-hypothyroidism syndrome - - Disease - - - - - - - - 88643 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88643 - Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome - - Disease - - - - - - - - 209905 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209905 - Brain-lung-thyroid syndrome - - Disease - - - - - - - - 453533 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=453533 - Polyendocrine-polyneuropathy syndrome - - Disease - - - - - - - - 456312 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=456312 - Infantile multisystem neurologic-endocrine-pancreatic disease - - Disease - - - - - - - - 589856 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589856 - Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome - - Malformation syndrome - - - - - - - - - - 226295 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=226295 - Primary congenital hypothyroidism - - Clinical group - - - - - - 95711 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95711 - Congenital hypothyroidism due to developmental anomaly - - Category - - - - - - 95712 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95712 - Thyroid ectopia - - Morphological anomaly - - - - - - - - 95713 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95713 - Athyreosis - - Morphological anomaly - - - - - - - - 95719 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95719 - Thyroid hemiagenesis - - Morphological anomaly - - - - - - - - 95720 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95720 - Thyroid hypoplasia - - Morphological anomaly - - - - - - - - - - 95714 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95714 - Primary congenital hypothyroidism without thyroid developmental anomaly - - Category - - - - - - 90673 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90673 - Hypothyroidism due to TSH receptor mutations - - Disease - - - - - - - - 95716 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95716 - Familial thyroid dyshormonogenesis - - Disease - - - - - - - - 95717 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95717 - Idiopathic congenital hypothyroidism - - Disease - - - - - - - - - - - - 226298 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=226298 - Central congenital hypothyroidism - - Clinical group - - - - - - 90674 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90674 - Isolated thyroid-stimulating hormone deficiency - - Disease - - - - - - - - 99832 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99832 - Resistance to thyrotropin-releasing hormone syndrome - - Disease - - - - - - - - 226307 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=226307 - Hypothyroidism due to deficient transcription factors involved in pituitary development or function - - Disease - - - - - - - - 238670 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238670 - Isolated thyrotropin-releasing hormone deficiency - - Disease - - - - - - - - 329235 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329235 - X-linked central congenital hypothyroidism with late-onset testicular enlargement - - Disease - - - - - - - - - - - - 436174 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436174 - Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome - - Disease - - - - - - - - 494433 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=494433 - MIRAGE syndrome - - Disease - - - - - - - - 85173 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85173 - IMAGe syndrome - - Malformation syndrome - - - - - - - - - - 181441 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=181441 - Rare disorder with hypergonadotropic hypogonadism - - Category - - - - - - 3044 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3044 - Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome - - Malformation syndrome - - - - - - - - 648 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=648 - Noonan syndrome - - Malformation syndrome - - - - - - - - 2233 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2233 - Hypogonadism-mitral valve prolapse-intellectual disability syndrome - - Disease - - - - - - - - 606 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=606 - Proximal myotonic myopathy - - Disease - - - - - - - - 43 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=43 - X-linked adrenoleukodystrophy - - Disease - - - - - - 139396 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139396 - X-linked cerebral adrenoleukodystrophy - - Clinical subtype - - - - - - - - 139399 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139399 - Adrenomyeloneuropathy - - Clinical subtype - - - - - - - - - - 2229 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2229 - Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome - - Malformation syndrome - - - - - - - - 2232 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2232 - Primary hypergonadotropic hypogonadism-partial alopecia syndrome - - Disease - - - - - - - - 2234 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2234 - Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome - - Malformation syndrome - - - - - - - - 2410 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2410 - Hypergonadotropic hypogonadism-cataract syndrome - - Malformation syndrome - - - - - - - - 2558 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2558 - Mikati-Najjar-Sahli syndrome - - Malformation syndrome - - - - - - - - 3464 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3464 - Woodhouse-Sakati syndrome - - Disease - - - - - - - - 2183 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2183 - Hydrocephalus-obesity-hypogonadism syndrome - - Malformation syndrome - - - - - - - - 90646 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90646 - Deafness-hypogonadism syndrome - - Malformation syndrome - - - - - - - - 163971 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163971 - X-linked intellectual disability, Cilliers type - - Disease - - - - - - - - 163976 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163976 - X-linked intellectual disability, Van Esch type - - Malformation syndrome - - - - - - - - 280679 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280679 - Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome - - Disease - - - - - - - - - - 183625 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183625 - Rare genetic diabetes mellitus - - Category - - - - - - 391408 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391408 - Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome - - Disease - - - - - - - - 411590 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411590 - Wolfram-like syndrome - - Disease - - - - - - - - 445062 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=445062 - Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome - - Disease - - - - - - - - 544628 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=544628 - Atypical Fanconi syndrome-neonatal hyperinsulinism syndrome - - Disease - - - - - - - - 3463 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3463 - Wolfram syndrome - - Disease - - - - - - - - 676 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=676 - Autosomal dominant hereditary chronic pancreatitis - - Disease - - - - - - - - 64 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64 - Alström syndrome - - Disease - - - - - - - - 1133 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1133 - AREDYLD syndrome - - Malformation syndrome - - - - - - - - 1667 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1667 - Wolcott-Rallison syndrome - - Disease - - - - - - - - 2255 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2255 - Pancreatic hypoplasia-diabetes-congenital heart disease syndrome - - Disease - - - - - - - - 3464 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3464 - Woodhouse-Sakati syndrome - - Disease - - - - - - - - 2596 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2596 - Myopathy and diabetes mellitus - - Disease - - - - - - - - 552 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=552 - MODY - - Disease - - - - - - - - 224 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=224 - Neonatal diabetes mellitus - - Category - - - - - - 65288 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65288 - Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome - - Malformation syndrome - - - - - - - - 79134 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79134 - DEND syndrome - - Disease - - - - - - - - 99885 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99885 - Isolated permanent neonatal diabetes mellitus - - Disease - - - - - - - - 99886 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99886 - Transient neonatal diabetes mellitus - - Disease - - - - - - - - 99989 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99989 - Intermediate DEND syndrome - - Disease - - - - - - - - - - 49827 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=49827 - Thiamine-responsive megaloblastic anemia syndrome - - Disease - - - - - - - - 93111 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93111 - HNF1B-related autosomal dominant tubulointerstitial kidney disease - - Clinical subtype - - - - - - - - 168569 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168569 - H syndrome - - Malformation syndrome - - - - - - - - 181368 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=181368 - Rare insulin-resistance syndrome - - Category - - - - - - 508 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508 - Donohue syndrome - - Malformation syndrome - - - - - - - - 528 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=528 - Congenital generalized lipodystrophy - - Disease - - - - - - 696289 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=696289 - Congenital generalized lipodystrophy type 2 - - Clinical subtype - - - - - - - - 696242 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=696242 - PPARG-associated congenital generalized lipodystrophy - - Clinical subtype - - - - - - - - 696206 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=696206 - Congenital generalized lipodystrophy type 3 - - Clinical subtype - - - - - - - - 696189 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=696189 - Congenital generalized lipodystrophy type 1 - - Clinical subtype - - - - - - - - 228429 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228429 - Congenital generalized lipodystrophy type 4 - - Clinical subtype - - - - - - - - - - 2297 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2297 - Insulin-resistance syndrome type A - - Disease - - - - - - - - 769 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=769 - Rabson-Mendenhall syndrome - - Malformation syndrome - - - - - - - - 3163 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3163 - SHORT syndrome - - Malformation syndrome - - - - - - - - 2298 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2298 - Insulin-resistance syndrome type B - - Disease - - - - - - - - 66518 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66518 - Short fifth metacarpals-insulin resistance syndrome - - Disease - - - - - - - - 90301 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90301 - Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome - - Disease - - - - - - - - 280356 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280356 - PLIN1-related familial partial lipodystrophy - - Disease - - - - - - - - 280365 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280365 - Autosomal semi-dominant severe lipodystrophic laminopathy - - Disease - - - - - - - - 436144 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436144 - Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome - - Disease - - - - - - - - 436182 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436182 - Microcephalic primordial dwarfism-insulin resistance syndrome - - Malformation syndrome - - - - - - - - - - 306558 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306558 - Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome - - Disease - - - - - - - - 3044 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3044 - Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome - - Malformation syndrome - - - - - - - - - - 183628 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183628 - Rare genetic hypothalamic or pituitary disease - - Category - - - - - - 101957 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101957 - Pituitary deficiency - - Category - - - - - - 30925 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=30925 - Hereditary arginine vasopressin deficiency - - Clinical subtype - - - - - - - - 95488 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95488 - Non-acquired pituitary hormone deficiency - - Category - - - - - - 631 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=631 - Non-acquired isolated growth hormone deficiency - - Disease - - - - - - 629 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=629 - Short stature due to growth hormone qualitative anomaly - - Clinical subtype - - - - - - - - 231662 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231662 - Isolated growth hormone deficiency type IA - - Clinical subtype - - - - - - - - 231671 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231671 - Isolated growth hormone deficiency type IB - - Clinical subtype - - - - - - - - 231679 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231679 - Isolated growth hormone deficiency type II - - Clinical subtype - - - - - - - - 231692 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231692 - Isolated growth hormone deficiency type III - - Clinical subtype - - - - - - 632 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=632 - Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia - - Clinical subtype - - - - - - - - 67045 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=67045 - X-linked intellectual disability with isolated growth hormone deficiency - - Clinical subtype - - - - - - - - - - 684247 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=684247 - Isolated growth hormone deficiency type IV - - Clinical subtype - - - - - - - - - - 467 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=467 - Non-acquired combined pituitary hormone deficiency - - Category - - - - - - 95495 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95495 - Disease associated with non-acquired combined pituitary hormone deficiency - - Category - - - - - - 2162 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2162 - Holoprosencephaly - - Malformation syndrome - - - - - - 93924 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93924 - Lobar holoprosencephaly - - Clinical subtype - - - - - - - - 93925 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93925 - Alobar holoprosencephaly - - Clinical subtype - - - - - - - - 93926 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93926 - Midline interhemispheric variant of holoprosencephaly - - Clinical subtype - - - - - - - - 220386 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220386 - Semilobar holoprosencephaly - - Clinical subtype - - - - - - - - 280195 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280195 - Septopreoptic holoprosencephaly - - Clinical subtype - - - - - - - - - - 672 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=672 - Pallister-Hall syndrome - - Malformation syndrome - - - - - - - - 2315 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2315 - Johanson-Blizzard syndrome - - Malformation syndrome - - - - - - - - 3157 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3157 - Septo-optic dysplasia spectrum - - Malformation syndrome - - - - - - - - 782 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=782 - Axenfeld-Rieger syndrome - - Malformation syndrome - - - - - - - - 77298 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77298 - Anophthalmia/microphthalmia-esophageal atresia syndrome - - Malformation syndrome - - - - - - - - 85442 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85442 - Short stature-pituitary and cerebellar defects-small sella turcica syndrome - - Disease - - - - - - - - 157954 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157954 - ANE syndrome - - Disease - - - - - - - - 231720 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231720 - Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome - - Malformation syndrome - - - - - - - - 293978 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293978 - Deficiency in anterior pituitary function-variable immunodeficiency syndrome - - Disease - - - - - - - - 420584 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420584 - Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome - - Malformation syndrome - - - - - - - - - - 178025 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178025 - Non-acquired combined pituitary hormone deficiencies without extrapituitary malformations - - Category - - - - - - 90695 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90695 - Non-acquired panhypopituitarism - - Disease - - - - - - - - 95494 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95494 - Combined pituitary hormone deficiencies, genetic forms - - Disease - - - - - - - - - - - - 90674 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90674 - Isolated thyroid-stimulating hormone deficiency - - Disease - - - - - - - - 95496 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95496 - Pituitary stalk interruption syndrome - - Morphological anomaly - - - - - - - - 174590 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=174590 - Congenital hypogonadotropic hypogonadism - - Category - - - - - - 181387 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=181387 - Rare disorder with multisystemic involvement and congenital hypogonadotropic hypogonadism - - Category - - - - - - 138 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=138 - CHARGE syndrome - - Malformation syndrome - - - - - - - - 739 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=739 - Prader-Willi syndrome - - Disease - - - - - - 98754 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98754 - Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 - - Etiological subtype - - - - - - - - 98793 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98793 - Prader-Willi syndrome due to paternal 15q11q13 deletion - - Etiological subtype - - - - - - 177901 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=177901 - Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 - - Etiological subtype - - - - - - - - 177904 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=177904 - Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 - - Etiological subtype - - - - - - - - - - 177907 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=177907 - Prader-Willi syndrome due to translocation - - Etiological subtype - - - - - - - - 177910 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=177910 - Prader-Willi syndrome due to imprinting mutation - - Etiological subtype - - - - - - - - - - 2377 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2377 - Laurence-Moon syndrome - - Malformation syndrome - - - - - - - - 1173 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1173 - Cerebellar ataxia-hypogonadism syndrome - - Disease - - - - - - - - 1180 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1180 - Ataxia-hypogonadism-choroidal dystrophy syndrome - - Disease - - - - - - - - 1387 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1387 - Cataract-intellectual disability-hypogonadism syndrome - - Malformation syndrome - - - - - - - - 2230 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2230 - Hypogonadotropic hypogonadism-frontoparietal alopecia syndrome - - Disease - - - - - - - - 2235 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2235 - Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome - - Disease - - - - - - - - 2250 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2250 - Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome - - Disease - - - - - - - - 2560 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2560 - Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome - - Malformation syndrome - - - - - - - - 3464 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3464 - Woodhouse-Sakati syndrome - - Disease - - - - - - - - 2326 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2326 - Kallmann syndrome-heart disease syndrome - - Malformation syndrome - - - - - - - - 110 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=110 - Bardet-Biedl syndrome - - Disease - - - - - - - - 88637 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88637 - Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome - - Clinical subtype - - - - - - - - 157954 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157954 - ANE syndrome - - Disease - - - - - - - - 293967 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293967 - Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome - - Malformation syndrome - - - - - - - - 398073 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398073 - Prader-Willi-like syndrome - - Clinical group - - - - - - 633028 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=633028 - CPE-related Prader-Willi-like syndrome - - Disease - - - - - - - - 171829 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171829 - 6q16 microdeletion syndrome - - Disease - - - - - - - - 398079 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398079 - SIM1-related Prader-Willi-like syndrome - - Disease - - - - - - - - 398069 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398069 - Schaaf-Yang syndrome - - Disease - - - - - - - - - - 1295 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1295 - Brachytelephalangy-dysmorphism-Kallmann syndrome - - Malformation syndrome - - - - - - - - 453533 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=453533 - Polyendocrine-polyneuropathy syndrome - - Disease - - - - - - - - - - 181390 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=181390 - Endocrinopathy with congenital hypogonadotropic hypogonadism as a major feature - - Category - - - - - - 66628 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66628 - Obesity due to congenital leptin deficiency - - Etiological subtype - - - - - - - - 71528 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71528 - Obesity due to prohormone convertase I deficiency - - Etiological subtype - - - - - - - - 90695 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90695 - Non-acquired panhypopituitarism - - Disease - - - - - - - - 95494 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95494 - Combined pituitary hormone deficiencies, genetic forms - - Disease - - - - - - - - 95700 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95700 - Familial adrenal hypoplasia with absent pituitary luteinizing hormone - - Disease - - - - - - - - 95702 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95702 - X-linked adrenal hypoplasia congenita - - Disease - - - - - - - - 179494 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=179494 - Obesity due to leptin receptor gene deficiency - - Etiological subtype - - - - - - - - - - 238666 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238666 - Isolated congenital hypogonadotropic hypogonadism - - Disease - - - - - - 478 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=478 - Kallmann syndrome - - Clinical subtype - - - - - - - - 432 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=432 - Normosmic congenital hypogonadotropic hypogonadism - - Clinical subtype - - - - - - - - - - 52901 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52901 - Isolated follicle stimulating hormone deficiency - - Disease - - - - - - - - - - 199296 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199296 - Congenital isolated ACTH deficiency - - Disease - - - - - - - - 314811 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314811 - Short stature due to GHSR deficiency - - Disease - - - - - - - - - - - - 181393 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=181393 - Growth hormone insensitivity syndrome - - Category - - - - - - 633 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=633 - Laron syndrome - - Disease - - - - - - - - 73272 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73272 - Growth delay due to insulin-like growth factor type 1 deficiency - - Disease - - - - - - - - 73273 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73273 - Growth delay due to insulin-like growth factor I resistance - - Disease - - - - - - - - 140941 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140941 - Short stature due to primary acid-labile subunit deficiency - - Disease - - - - - - - - 220465 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220465 - Laron syndrome with immunodeficiency - - Disease - - - - - - - - 314802 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314802 - Short stature due to partial GHR deficiency - - Disease - - - - - - - - - - 300373 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300373 - X-linked acrogigantism - - Disease - - - - - - - - 397685 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397685 - Familial hyperprolactinemia - - Disease - - - - - - - - - - 183631 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183631 - Rare genetic thyroid disease - - Category - - - - - - 181396 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=181396 - Rare hypothyroidism - - Category - - - - - - 442 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=442 - Congenital hypothyroidism - - Category - - - - - - 226292 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=226292 - Permanent congenital hypothyroidism - - Category - - - - - - 177107 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=177107 - Syndromic hypothyroidism - - Category - - - - - - 597746 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=597746 - Blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome - - Malformation syndrome - - - - - - - - 2321 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2321 - Jung syndrome - - Malformation syndrome - - - - - - - - 705 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=705 - Pendred syndrome - - Malformation syndrome - - - - - - - - 1226 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1226 - Bamforth-Lazarus syndrome - - Malformation syndrome - - - - - - - - 1882 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1882 - Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome - - Malformation syndrome - - - - - - - - 2315 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2315 - Johanson-Blizzard syndrome - - Malformation syndrome - - - - - - - - 3047 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3047 - Blepharophimosis-intellectual disability syndrome, SBBYS type - - Malformation syndrome - - - - - - - - 2349 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2349 - Muscular pseudohypertrophy-hypothyroidism syndrome - - Disease - - - - - - - - 88643 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88643 - Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome - - Disease - - - - - - - - 209905 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209905 - Brain-lung-thyroid syndrome - - Disease - - - - - - - - 453533 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=453533 - Polyendocrine-polyneuropathy syndrome - - Disease - - - - - - - - 456312 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=456312 - Infantile multisystem neurologic-endocrine-pancreatic disease - - Disease - - - - - - - - 589856 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589856 - Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome - - Malformation syndrome - - - - - - - - - - 226295 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=226295 - Primary congenital hypothyroidism - - Clinical group - - - - - - 95711 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95711 - Congenital hypothyroidism due to developmental anomaly - - Category - - - - - - 95712 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95712 - Thyroid ectopia - - Morphological anomaly - - - - - - - - 95713 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95713 - Athyreosis - - Morphological anomaly - - - - - - - - 95719 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95719 - Thyroid hemiagenesis - - Morphological anomaly - - - - - - - - 95720 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95720 - Thyroid hypoplasia - - Morphological anomaly - - - - - - - - - - 95714 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95714 - Primary congenital hypothyroidism without thyroid developmental anomaly - - Category - - - - - - 90673 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90673 - Hypothyroidism due to TSH receptor mutations - - Disease - - - - - - - - 95716 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95716 - Familial thyroid dyshormonogenesis - - Disease - - - - - - - - 95717 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95717 - Idiopathic congenital hypothyroidism - - Disease - - - - - - - - - - - - 226298 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=226298 - Central congenital hypothyroidism - - Clinical group - - - - - - 90674 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90674 - Isolated thyroid-stimulating hormone deficiency - - Disease - - - - - - - - 99832 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99832 - Resistance to thyrotropin-releasing hormone syndrome - - Disease - - - - - - - - 226307 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=226307 - Hypothyroidism due to deficient transcription factors involved in pituitary development or function - - Disease - - - - - - - - 238670 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238670 - Isolated thyrotropin-releasing hormone deficiency - - Disease - - - - - - - - 329235 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329235 - X-linked central congenital hypothyroidism with late-onset testicular enlargement - - Disease - - - - - - - - - - - - 226316 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=226316 - Genetic transient congenital hypothyroidism - - Disease - - - - - - - - - - - - 181399 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=181399 - Rare hyperthyroidism - - Category - - - - - - 424 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424 - Familial hyperthyroidism due to mutations in TSH receptor - - Disease - - - - - - - - 99819 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99819 - Familial gestational hyperthyroidism - - Disease - - - - - - - - - - 276399 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276399 - Familial multinodular goiter - - Disease - - - - - - - - 596426 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=596426 - Syndrome of reduced sensitivity to thyroid hormone - - Clinical group - - - - - - 566243 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=566243 - Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta - - Disease - - - - - - - - 566231 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=566231 - Resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha - - Disease - - - - - - - - 59 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=59 - Allan-Herndon-Dudley syndrome - - Disease - - - - - - - - 171706 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171706 - Short stature-delayed bone age due to thyroid hormone metabolism deficiency - - Disease - - - - - - - - 597939 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=597939 - Euthyroid dysprealbuminemic hyperthyroxinemia - - Disease - - - - - - - - - - - - 183634 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183634 - Rare genetic parathyroid disease and phosphocalcic metabolism disorder - - Category - - - - - - 405 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=405 - Familial hypocalciuric hypercalcemia - - Disease - - - - - - 93372 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93372 - Familial hypocalciuric hypercalcemia type 1 - - Etiological subtype - - - - - - - - 101049 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101049 - Familial hypocalciuric hypercalcemia type 2 - - Etiological subtype - - - - - - - - 101050 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101050 - Familial hypocalciuric hypercalcemia type 3 - - Etiological subtype - - - - - - - - - - 53715 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53715 - Familial tumoral calcinosis - - Disease - - - - - - 306658 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306658 - Familial normophosphatemic tumoral calcinosis - - Clinical subtype - - - - - - - - 306661 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306661 - Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome - - Clinical subtype - - - - - - - - - - 208593 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=208593 - Genetic hypoparathyroidism - - Category - - - - - - 2238 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2238 - Familial isolated hypoparathyroidism - - Disease - - - - - - 2239 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2239 - Familial isolated hypoparathyroidism due to agenesis of parathyroid gland - - Clinical subtype - - - - - - - - 428 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=428 - Autosomal dominant hypocalcemia - - Clinical subtype - - - - - - - - 189466 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=189466 - Familial isolated hypoparathyroidism due to impaired PTH secretion - - Clinical subtype - - - - - - - - - - 3453 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3453 - Autoimmune polyendocrinopathy type 1 - - Disease - - - - - - - - 97593 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97593 - Pseudohypoparathyroidism - - Category - - - - - - 457062 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457062 - Pseudohypoparathyroidism without Albright hereditary osteodystrophy - - Clinical group - - - - - - 94089 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94089 - Pseudohypoparathyroidism type 1B - - Disease - - - - - - - - 94090 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94090 - Pseudohypoparathyroidism type 2 - - Disease - - - - - - - - - - 457059 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457059 - Pseudohypoparathyroidism with Albright hereditary osteodystrophy - - Clinical group - - - - - - 79443 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79443 - Pseudohypoparathyroidism type 1A - - Disease - - - - - - - - 79444 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79444 - Pseudohypoparathyroidism type 1C - - Disease - - - - - - - - 79445 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79445 - Pseudopseudohypoparathyroidism - - Disease - - - - - - - - - - - - 181402 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=181402 - Syndrome with hypoparathyroidism - - Category - - - - - - 589856 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589856 - Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome - - Malformation syndrome - - - - - - - - 480 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480 - Kearns-Sayre syndrome - - Disease - - - - - - - - 699 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699 - Pearson syndrome - - Disease - - - - - - - - 1563 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1563 - Dahlberg-Borer-Newcomer syndrome - - Malformation syndrome - - - - - - - - 2237 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2237 - Hypoparathyroidism-sensorineural deafness-renal disease syndrome - - Malformation syndrome - - - - - - - - 2323 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2323 - Sanjad-Sakati syndrome - - Malformation syndrome - - - - - - - - 2333 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2333 - Kenny-Caffey syndrome - - Malformation syndrome - - - - - - 93324 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93324 - Autosomal recessive Kenny-Caffey syndrome - - Etiological subtype - - - - - - - - 93325 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93325 - Autosomal dominant Kenny-Caffey syndrome - - Etiological subtype - - - - - - - - - - 5 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=5 - Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency - - Disease - - - - - - - - 567 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=567 - 22q11.2 deletion syndrome - - Malformation syndrome - - - - - - - - - - - - 208596 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=208596 - Genetic hyperparathyroidism - - Category - - - - - - 417 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=417 - Neonatal severe primary hyperparathyroidism - - Disease - - - - - - - - 2207 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2207 - Familial primary hyperparathyroidism - - Clinical group - - - - - - 99879 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99879 - Familial isolated hyperparathyroidism - - Disease - - - - - - - - 99880 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99880 - Hyperparathyroidism-jaw tumor syndrome - - Disease - - - - - - - - 652 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=652 - Multiple endocrine neoplasia type 1 - - Disease - - - - - - - - - - - - 289098 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289098 - Disorders of vitamin D metabolism - - Category - - - - - - 437 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=437 - Hypophosphatemic rickets - - Clinical group - - - - - - 1652 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1652 - Dent disease - - Disease - - - - - - 93622 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93622 - Dent disease type 1 - - Clinical subtype - - - - - - - - 93623 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93623 - Dent disease type 2 - - Clinical subtype - - - - - - - - - - 213 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213 - Cystinosis - - Disease - - - - - - 411629 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411629 - Infantile nephropathic cystinosis - - Clinical subtype - - - - - - - - 411634 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411634 - Juvenile nephropathic cystinosis - - Clinical subtype - - - - - - - - 411641 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411641 - Ocular cystinosis - - Clinical subtype - - - - - - - - - - 244305 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=244305 - Dominant hypophosphatemia with nephrolithiasis or osteoporosis - - Disease - - - - - - - - 89936 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=89936 - X-linked hypophosphatemia - - Disease - - - - - - - - 89937 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=89937 - Autosomal dominant hypophosphatemic rickets - - Disease - - - - - - - - 157215 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157215 - Hereditary hypophosphatemic rickets with hypercalciuria - - Disease - - - - - - - - 289176 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289176 - Autosomal recessive hypophosphatemic rickets - - Disease - - - - - - - - - - 289103 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289103 - Hypocalcemic rickets - - Clinical group - - - - - - 93160 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93160 - Hypocalcemic vitamin D-resistant rickets - - Disease - - - - - - - - 289157 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289157 - Hypocalcemic vitamin D-dependent rickets - - Disease - - - - - - - - - - - - 300547 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300547 - Autosomal recessive infantile hypercalcemia - - Disease - - - - - - - - - - 183637 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183637 - Rare genetic adrenal disease - - Category - - - - - - 427 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=427 - Familial hypoaldosteronism - - Disease - - - - - - 556030 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=556030 - Early-onset familial hypoaldosteronism - - Clinical subtype - - - - - - - - 556037 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=556037 - Late-onset familial hypoaldosteronism - - Clinical subtype - - - - - - - - - - 2976 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2976 - Pseudoleprechaunism syndrome, Patterson type - - Malformation syndrome - - - - - - - - 320 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=320 - Apparent mineralocorticoid excess - - Disease - - - - - - - - 29072 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=29072 - Hereditary pheochromocytoma-paraganglioma - - Disease - - - - - - - - 101960 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101960 - Genetic chronic primary adrenal insufficiency - - Category - - - - - - 43 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=43 - X-linked adrenoleukodystrophy - - Disease - - - - - - 139396 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139396 - X-linked cerebral adrenoleukodystrophy - - Clinical subtype - - - - - - - - 139399 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139399 - Adrenomyeloneuropathy - - Clinical subtype - - - - - - - - - - 869 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=869 - Triple A syndrome - - Disease - - - - - - - - 977 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=977 - Adrenomyodystrophy - - Disease - - - - - - - - 3453 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3453 - Autoimmune polyendocrinopathy type 1 - - Disease - - - - - - - - 361 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=361 - Familial glucocorticoid deficiency - - Disease - - - - - - - - 168558 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168558 - 46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency - - Disease - - - - - - - - 289548 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289548 - Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency - - Disease - - - - - - - - 44 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=44 - Neonatal adrenoleukodystrophy - - Disease - - - - - - - - 418 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=418 - Congenital adrenal hyperplasia - - Clinical group - - - - - - 90790 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90790 - Congenital lipoid adrenal hyperplasia due to STAR deficency - - Disease - - - - - - 325524 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325524 - Classic congenital lipoid adrenal hyperplasia due to STAR deficency - - Clinical subtype - - - - - - - - 325529 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325529 - Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency - - Clinical subtype - - - - - - - - - - 90791 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90791 - Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency - - Disease - - - - - - - - 90793 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90793 - Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency - - Disease - - - - - - - - 90794 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90794 - Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency - - Disease - - - - - - 315306 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=315306 - Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form - - Clinical subtype - - - - - - - - 315311 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=315311 - Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form - - Clinical subtype - - - - - - - - - - 90795 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90795 - Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency - - Disease - - - - - - - - 95699 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95699 - Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency - - Disease - - - - - - - - 63269 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=63269 - Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis - - Clinical subtype - - - - - - - - - - 595337 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=595337 - Adrenal hypoplasia congenita - - Clinical group - - - - - - 85173 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85173 - IMAGe syndrome - - Malformation syndrome - - - - - - - - 95700 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95700 - Familial adrenal hypoplasia with absent pituitary luteinizing hormone - - Disease - - - - - - - - 95702 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95702 - X-linked adrenal hypoplasia congenita - - Disease - - - - - - - - 494433 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=494433 - MIRAGE syndrome - - Disease - - - - - - - - 506334 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=506334 - Familial steroid-resistant nephrotic syndrome with adrenal insufficiency - - Disease - - - - - - - - 261476 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261476 - Xp21 deletion syndrome - - Disease - - - - - - - - - - 199332 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199332 - Endocrine-cerebro-osteodysplasia syndrome - - Malformation syndrome - - - - - - - - - - 181412 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=181412 - Adrenogenital syndrome - - Category - - - - - - 418 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=418 - Congenital adrenal hyperplasia - - Clinical group - - - - - - 90790 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90790 - Congenital lipoid adrenal hyperplasia due to STAR deficency - - Disease - - - - - - 325524 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325524 - Classic congenital lipoid adrenal hyperplasia due to STAR deficency - - Clinical subtype - - - - - - - - 325529 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325529 - Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency - - Clinical subtype - - - - - - - - - - 90791 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90791 - Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency - - Disease - - - - - - - - 90793 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90793 - Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency - - Disease - - - - - - - - 90794 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90794 - Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency - - Disease - - - - - - 315306 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=315306 - Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form - - Clinical subtype - - - - - - - - 315311 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=315311 - Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form - - Clinical subtype - - - - - - - - - - 90795 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90795 - Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency - - Disease - - - - - - - - 95699 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95699 - Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency - - Disease - - - - - - - - 63269 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=63269 - Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis - - Clinical subtype - - - - - - - - - - 786 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=786 - Generalized glucocorticoid resistance syndrome - - Disease - - - - - - - - 168588 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168588 - Hyperandrogenism due to cortisone reductase deficiency - - Malformation syndrome - - - - - - - - 494433 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=494433 - MIRAGE syndrome - - Disease - - - - - - - - - - 199247 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199247 - Corticosteroid-binding globulin deficiency - - Disease - - - - - - - - 371861 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=371861 - Genetic hyperaldosteronism - - Category - - - - - - 235936 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=235936 - Familial hyperaldosteronism - - Clinical group - - - - - - 403 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=403 - Familial hyperaldosteronism type I - - Disease - - - - - - - - 404 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404 - Familial hyperaldosteronism type II - - Disease - - - - - - - - 251274 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251274 - Familial hyperaldosteronism type III - - Disease - - - - - - - - 642671 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642671 - Familial hyperaldosteronism type IV - - Disease - - - - - - - - - - 369929 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369929 - Primary hyperaldosteronism-seizures-neurological abnormalities syndrome - - Disease - - - - - - - - - - 324299 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324299 - Multiple paragangliomas associated with polycythemia - - Disease - - - - - - - - 189427 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=189427 - Cushing syndrome due to bilateral macronodular adrenocortical disease - - Disease - - - - - - - - - - 183643 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183643 - Genetic polyendocrinopathy - - Category - - - - - - 1227 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1227 - Bangstad syndrome - - Malformation syndrome - - - - - - - - 3453 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3453 - Autoimmune polyendocrinopathy type 1 - - Disease - - - - - - - - 37042 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=37042 - Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome - - Disease - - - - - - - - 100094 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100094 - Multiple polyglandular tumor - - Category - - - - - - 892 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=892 - Von Hippel-Lindau disease - - Disease - - - - - - - - 1359 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1359 - Carney complex - - Disease - - - - - - - - 97286 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97286 - Carney-Stratakis syndrome - - Disease - - - - - - - - 139411 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139411 - Carney triad - - Disease - - - - - - - - 276161 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276161 - Multiple endocrine neoplasia - - Clinical group - - - - - - 652 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=652 - Multiple endocrine neoplasia type 1 - - Disease - - - - - - - - 653 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=653 - Multiple endocrine neoplasia type 2 - - Disease - - - - - - 247698 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247698 - Multiple endocrine neoplasia type 2A - - Clinical subtype - - - - - - - - 247709 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247709 - Multiple endocrine neoplasia type 2B - - Clinical subtype - - - - - - - - - - 276152 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276152 - Multiple endocrine neoplasia type 4 - - Disease - - - - - - - - - - - - 391487 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391487 - STAT1-related autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome - - Disease - - - - - - - - 445018 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=445018 - Combined immunodeficiency due to LRBA deficiency - - Disease - - - - - - - - 686495 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=686495 - MADD-related developmental delay-endocrine dysfunction-hypohemoglobinemia syndrome - - Disease - - - - - - - - - - 276525 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276525 - Familial hyperinsulinism - - Category - - - - - - 657 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=657 - Congenital isolated hyperinsulinism - - Clinical group - - - - - - 165985 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=165985 - Diazoxide-sensitive diffuse hyperinsulinism - - Clinical group - - - - - - 35878 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35878 - Hyperinsulinism-hyperammonemia syndrome - - Disease - - - - - - - - 71212 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71212 - Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency - - Disease - - - - - - - - 79299 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79299 - Congenital glucokinase-related hyperinsulinism - - Disease - - - - - - - - 165991 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=165991 - Exercise-induced hyperinsulinism - - Disease - - - - - - - - 263455 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263455 - Congenital hyperinsulinism due to HNF4A deficiency - - Disease - - - - - - - - 276556 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276556 - Hyperinsulinism due to UCP2 deficiency - - Disease - - - - - - - - 276575 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276575 - Autosomal dominant hyperinsulinism due to SUR1 deficiency - - Disease - - - - - - - - 276580 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276580 - Autosomal dominant hyperinsulinism due to Kir6.2 deficiency - - Disease - - - - - - - - 324575 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324575 - Hyperinsulinism due to HNF1A deficiency - - Disease - - - - - - - - - - 276585 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276585 - Diazoxide-resistant hyperinsulinism - - Clinical group - - - - - - 79298 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79298 - Diazoxide-resistant focal hyperinsulinism - - Clinical group - - - - - - 276598 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276598 - Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency - - Disease - - - - - - - - 276603 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276603 - Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency - - Disease - - - - - - - - - - 165988 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=165988 - Diazoxide-resistant diffuse hyperinsulinism - - Clinical group - - - - - - 79643 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79643 - Autosomal recessive hyperinsulinism due to SUR1 deficiency - - Disease - - - - - - - - 79644 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79644 - Autosomal recessive hyperinsulinism due to Kir6.2 deficiency - - Disease - - - - - - - - - - - - - - 263458 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263458 - Hyperinsulinism due to INSR deficiency - - Disease - - - - - - - - 276608 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276608 - Non-insulinoma pancreatogenous hypoglycemia syndrome - - Disease - - - - - - - - 544628 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=544628 - Atypical Fanconi syndrome-neonatal hyperinsulinism syndrome - - Disease - - - - - - - - - - 293964 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293964 - Hypoinsulinemic hypoglycemia and body hemihypertrophy - - Disease - - - - - - - - 325690 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325690 - Genetic difference of sex development - - Category - - - - - - 325546 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325546 - Sex chromosome difference of sex development - - Category - - - - - - 881 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=881 - Turner syndrome - - Malformation syndrome - - - - - - 99226 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99226 - Monosomy X syndrome - - Etiological subtype - - - - - - - - 99228 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99228 - Mosaic monosomy X syndrome - - Etiological subtype - - - - - - - - 99413 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99413 - Turner syndrome due to structural X chromosome anomalies - - Etiological subtype - - - - - - - - - - 10 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=10 - 48,XXYY syndrome - - Malformation syndrome - - - - - - - - 1772 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1772 - 45,X/46,XY mixed gonadal dysgenesis - - Malformation syndrome - - - - - - - - 96263 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96263 - 48,XXXY syndrome - - Malformation syndrome - - - - - - - - 96264 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96264 - 49,XXXXY syndrome - - Malformation syndrome - - - - - - - - 199310 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199310 - Tetragametic chimerism syndrome - - Malformation syndrome - - - - - - - - - - 325697 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325697 - Genetic 46,XX difference of sex development - - Category - - - - - - 90776 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90776 - 46,XX difference of sex development induced by fetal androgens excess - - Category - - - - - - 786 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=786 - Generalized glucocorticoid resistance syndrome - - Disease - - - - - - - - 90791 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90791 - Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency - - Disease - - - - - - - - 90794 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90794 - Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency - - Disease - - - - - - 315306 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=315306 - Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form - - Clinical subtype - - - - - - - - 315311 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=315311 - Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form - - Clinical subtype - - - - - - - - - - 90795 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90795 - Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency - - Disease - - - - - - - - 95699 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95699 - Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency - - Disease - - - - - - - - 63269 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=63269 - Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis - - Clinical subtype - - - - - - - - - - 325055 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325055 - 46,XX disorder of gonadal development - - Category - - - - - - 243 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=243 - 46,XX gonadal dysgenesis - - Malformation syndrome - - - - - - - - 2138 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2138 - 46,XX ovotesticular difference of sex development - - Malformation syndrome - - - - - - - - 393 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=393 - 46,XX testicular difference of sex development - - Malformation syndrome - - - - - - - - 444048 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444048 - 46,XX ovarian dysgenesis-short stature syndrome - - Disease - - - - - - - - - - 325061 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325061 - 46,XX difference of sex development induced by fetoplacental androgens excess - - Category - - - - - - 91 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91 - Aromatase deficiency - - Disease - - - - - - - - - - 325109 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325109 - Syndrome with 46,XX difference of sex development - - Category - - - - - - 991 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=991 - PAGOD syndrome - - Malformation syndrome - - - - - - - - 2855 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2855 - Perrault syndrome - - Disease - - - - - - 642945 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642945 - Perrault syndrome type 1 - - Clinical subtype - - - - - - - - 642976 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642976 - Perrault syndrome type 2 - - Clinical subtype - - - - - - - - - - 2973 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2973 - 46,XX difference of sex development-anorectal anomalies syndrome - - Malformation syndrome - - - - - - - - 2975 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2975 - 46,XX difference of sex development-skeletal anomalies syndrome - - Malformation syndrome - - - - - - - - 85112 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85112 - Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome - - Disease - - - - - - - - 137631 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137631 - Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome - - Disease - - - - - - - - 139466 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139466 - SERKAL syndrome - - Malformation syndrome - - - - - - - - 247768 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247768 - Müllerian aplasia and hyperandrogenism - - Malformation syndrome - - - - - - - - - - - - 325706 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325706 - Genetic 46,XY difference of sex development - - Category - - - - - - 98087 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98087 - Syndrome with 46,XY difference of sex development - - Category - - - - - - 893 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=893 - WAGR syndrome - - Malformation syndrome - - - - - - - - 1642 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1642 - Distal deletion 9p syndrome - - Malformation syndrome - - - - - - - - 1770 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1770 - XY type gonadal dysgenesis-associated anomalies syndrome - - Malformation syndrome - - - - - - - - 2983 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2983 - Difference of sex development-intellectual disability syndrome - - Disease - - - - - - - - 1422 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1422 - Chondrodysplasia-difference of sex development syndrome - - Malformation syndrome - - - - - - - - 847 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=847 - X-linked alpha-thalassemia-intellectual disability syndrome - - Malformation syndrome - - - - - - - - 140 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140 - Campomelic dysplasia - - Malformation syndrome - - - - - - - - 991 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=991 - PAGOD syndrome - - Malformation syndrome - - - - - - - - 2282 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2282 - Dysmorphism-short stature-deafness-difference of sex development syndrome - - Malformation syndrome - - - - - - - - 3097 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3097 - Meacham syndrome - - Malformation syndrome - - - - - - - - 220 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220 - Denys-Drash syndrome - - Disease - - - - - - - - 347 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=347 - Frasier syndrome - - Disease - - - - - - - - 452 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=452 - X-linked lissencephaly with abnormal genitalia - - Malformation syndrome - - - - - - - - 95700 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95700 - Familial adrenal hypoplasia with absent pituitary luteinizing hormone - - Disease - - - - - - - - 168563 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168563 - 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome - - Malformation syndrome - - - - - - - - 168593 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168593 - Sudden infant death-dysgenesis of the testes syndrome - - Malformation syndrome - - - - - - - - 456328 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=456328 - X-linked myotubular myopathy-abnormal genitalia syndrome - - Disease - - - - - - - - 494433 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=494433 - MIRAGE syndrome - - Disease - - - - - - - - 2075 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2075 - Genitopalatocardiac syndrome - - Malformation syndrome - - - - - - - - - - 325118 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325118 - 46,XY disorder of gonadal development - - Category - - - - - - 242 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=242 - 46,XY complete gonadal dysgenesis - - Malformation syndrome - - - - - - - - 983 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=983 - Testicular regression syndrome - - Morphological anomaly - - - - - - - - 251510 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251510 - 46,XY partial gonadal dysgenesis - - Malformation syndrome - - - - - - - - 325124 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325124 - Testicular agenesis - - Morphological anomaly - - - - - - - - 325345 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325345 - 46,XY ovotesticular difference of sex development - - Disease - - - - - - - - - - 325713 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325713 - Genetic 46,XY difference of sex development of endocrine origin - - Category - - - - - - 754 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=754 - Androgen insensitivity syndrome - - Clinical group - - - - - - 90797 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90797 - Partial androgen insensitivity syndrome - - Disease - - - - - - - - 99429 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99429 - Complete androgen insensitivity syndrome - - Disease - - - - - - - - - - 325357 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325357 - 46,XY difference of sex development due to impaired androgen production - - Category - - - - - - 755 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=755 - Leydig cell hypoplasia - - Disease - - - - - - 96265 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96265 - Leydig cell hypoplasia due to complete LH resistance - - Clinical subtype - - - - - - - - 96266 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96266 - Leydig cell hypoplasia due to partial LH resistance - - Clinical subtype - - - - - - - - 325448 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325448 - Leydig cell hypoplasia due to LHB deficiency - - Clinical subtype - - - - - - - - - - 90783 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90783 - 46,XY difference of sex development due to a testosterone synthesis defect - - Category - - - - - - 90786 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90786 - 46,XY difference of sex development due to adrenal and testicular steroidogenesis defect - - Category - - - - - - 90790 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90790 - Congenital lipoid adrenal hyperplasia due to STAR deficency - - Disease - - - - - - 325524 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325524 - Classic congenital lipoid adrenal hyperplasia due to STAR deficency - - Clinical subtype - - - - - - - - 325529 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325529 - Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency - - Clinical subtype - - - - - - - - - - 90791 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90791 - Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency - - Disease - - - - - - - - 90793 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90793 - Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency - - Disease - - - - - - - - 95699 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95699 - Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency - - Disease - - - - - - - - 168558 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168558 - 46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency - - Disease - - - - - - - - 63269 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=63269 - Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis - - Clinical subtype - - - - - - - - - - 90787 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90787 - 46,XY difference of sex development due to testicular steroidogenesis defect - - Category - - - - - - 752 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=752 - 46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency - - Disease - - - - - - - - 90796 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90796 - 46,XY difference of sex development due to isolated 17,20-lyase deficiency - - Disease - - - - - - - - - - 325511 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325511 - 46,XY difference of sex development due to a cholesterol synthesis defect - - Category - - - - - - 818 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=818 - Smith-Lemli-Opitz syndrome - - Malformation syndrome - - - - - - - - - - - - 98086 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98086 - 46,XY difference of sex development due to a defect in testosterone metabolism by peripheral tissue - - Category - - - - - - 753 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=753 - 46,XY difference of sex development due to 5-alpha-reductase 2 deficiency - - Disease - - - - - - - - - - 443090 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443090 - 46,XY difference of sexual development due to dihydrotestosterone backdoor pathway biosynthesis defect - - Category - - - - - - 443087 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443087 - 46,XY difference of sex development due to testicular 17,20-desmolase deficiency - - Disease - - - - - - - - - - - - - - - - - - - - 158300 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158300 - Rare genetic hematologic disease - - Category - - - - - - 447 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447 - Paroxysmal nocturnal hemoglobinuria - - Disease - - - - - - - - 86816 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86816 - Congenital analbuminemia - - Disease - - - - - - - - 183651 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183651 - Rare constitutional anemia - - Category - - - - - - 466066 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466066 - Genetic hemoglobinopathy - - Category - - - - - - 330041 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=330041 - Hemoglobin M disease - - Disease - - - - - - - - 621 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=621 - Hereditary methemoglobinemia - - Disease - - - - - - - - 2132 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2132 - Hemoglobin C disease - - Disease - - - - - - - - 2133 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2133 - Hemoglobin E disease - - Disease - - - - - - - - 90039 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90039 - Hemoglobin D disease - - Disease - - - - - - - - 275745 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275745 - Alpha-thalassemia and related disorders - - Category - - - - - - 846 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=846 - Alpha-thalassemia - - Disease - - - - - - 93616 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93616 - Hemoglobin H disease - - Clinical subtype - - - - - - - - 163596 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163596 - Hb Bart's hydrops fetalis - - Clinical subtype - - - - - - - - - - 232288 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=232288 - Syndrome with alpha-thalassemia as a major feature - - Category - - - - - - 847 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=847 - X-linked alpha-thalassemia-intellectual disability syndrome - - Malformation syndrome - - - - - - - - 98791 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98791 - Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 - - Malformation syndrome - - - - - - - - 231401 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231401 - Alpha-thalassemia-myelodysplastic syndrome - - Disease - - - - - - - - - - - - 275749 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275749 - Beta-thalassemia and related diseases - - Category - - - - - - 848 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=848 - Beta-thalassemia - - Disease - - - - - - 231214 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231214 - Beta-thalassemia major - - Clinical subtype - - - - - - - - 231222 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231222 - Beta-thalassemia intermedia - - Clinical subtype - - - - - - - - 231226 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231226 - Dominant beta-thalassemia - - Clinical subtype - - - - - - - - - - 231230 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231230 - Beta-thalassemia associated with another hemoglobin anomaly - - Category - - - - - - 46532 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=46532 - Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome - - Disease - - - - - - - - 231237 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231237 - Delta-beta-thalassemia - - Disease - - - - - - - - 231242 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231242 - Hemoglobin C-beta-thalassemia syndrome - - Disease - - - - - - - - 231249 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231249 - Hemoglobin E-beta-thalassemia syndrome - - Disease - - - - - - - - 330032 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=330032 - Hemoglobin Lepore-beta-thalassemia syndrome - - Disease - - - - - - - - - - 231386 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231386 - Beta-thalassemia with other manifestations - - Category - - - - - - 231393 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231393 - Beta-thalassemia-X-linked thrombocytopenia syndrome - - Disease - - - - - - - - - - - - 275752 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275752 - Sickle cell disease - - Category - - - - - - 232 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=232 - Sickle cell anemia - - Disease - - - - - - - - 251359 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251359 - Sickle cell-beta-thalassemia disease syndrome - - Disease - - - - - - 695140 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=695140 - Sickle cell-beta zero-thalassemia - - Etiological subtype - - - - - - - - 695147 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=695147 - Sickle cell-beta plus-thalassemia - - Etiological subtype - - - - - - - - - - 251380 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251380 - Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome - - Disease - - - - - - - - 251365 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251365 - Sickle cell S-C disease - - Disease - - - - - - - - 700085 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700085 - Sickle cell disease due to hemoglobin S and a non-S/non-C hemoglobin variant - - Disease - - - - - - 700107 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700107 - Sickle cell S-other specified hemoglobin variant - - Clinical subtype - - - - - - - - 251370 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251370 - Sickle cell S-D Punjab disease - - Clinical subtype - - - - - - - - 251375 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251375 - Sickle cell S-E disease - - Clinical subtype - - - - - - - - 700090 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700090 - Sickle cell S-O Arab disease - - Clinical subtype - - - - - - - - 699822 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699822 - Sickle cell S-Lepore disease - - Clinical subtype - - - - - - - - - - - - 280615 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280615 - Hemoglobinopathy Toms River - - Disease - - - - - - - - 700111 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700111 - Homozygous hemoglobin O Arab disease - - Disease - - - - - - - - 99139 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99139 - Unstable hemoglobin disease - - Disease - - - - - - - - - - 98362 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98362 - Constitutional sideroblastic anemia - - Category - - - - - - 699 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699 - Pearson syndrome - - Disease - - - - - - - - 2598 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2598 - Mitochondrial myopathy and sideroblastic anemia - - Disease - - - - - - - - 2802 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2802 - X-linked sideroblastic anemia and spinocerebellar ataxia - - Disease - - - - - - - - 49827 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=49827 - Thiamine-responsive megaloblastic anemia syndrome - - Disease - - - - - - - - 75563 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75563 - X-linked sideroblastic anemia - - Disease - - - - - - - - 255132 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=255132 - Adult-onset autosomal recessive sideroblastic anemia - - Disease - - - - - - - - 260305 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=260305 - Autosomal recessive sideroblastic anemia - - Disease - - - - - - - - 300298 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300298 - Severe congenital hypochromic anemia with ringed sideroblasts - - Disease - - - - - - - - 369861 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369861 - Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome - - Disease - - - - - - - - - - 68383 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=68383 - Rare constitutional aplastic anemia - - Category - - - - - - 124 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=124 - Diamond-Blackfan anemia - - Disease - - - - - - - - 1775 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1775 - Dyskeratosis congenita - - Disease - - - - - - - - 84 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=84 - Fanconi anemia - - Malformation syndrome - - - - - - - - 3088 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3088 - Revesz syndrome - - Malformation syndrome - - - - - - - - 3322 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3322 - Hoyeraal-Hreidarsson syndrome - - Disease - - - - - - - - 3466 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3466 - WT limb-blood syndrome - - Disease - - - - - - - - 3319 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3319 - Congenital amegakaryocytic thrombocytopenia - - Disease - - - - - - - - 811 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=811 - Shwachman-Diamond syndrome - - Disease - - - - - - - - 314399 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314399 - Autosomal dominant aplasia and myelodysplasia - - Disease - - - - - - - - 397692 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397692 - Hereditary isolated aplastic anemia - - Disease - - - - - - - - 401764 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401764 - Pancytopenia-developmental delay syndrome - - Disease - - - - - - - - 611216 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=611216 - Aplastic anemia-intellectual disability-dwarfism syndrome - - Disease - - - - - - - - - - 182043 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=182043 - Rare constitutional hemolytic anemia - - Category - - - - - - 576742 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=576742 - Genetic hemolytic uremic syndrome - - Category - - - - - - 2134 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2134 - Atypical hemolytic uremic syndrome - - Disease - - - - - - 544472 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=544472 - Atypical hemolytic uremic syndrome with complement gene abnormality - - Etiological subtype - - - - - - - - 93581 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93581 - Atypical hemolytic uremic syndrome with anti-factor H antibodies - - Etiological subtype - - - - - - - - - - 79282 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79282 - Methylmalonic acidemia with homocystinuria, type cblC - - Clinical subtype - - - - - - - - 357008 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357008 - Hemolytic uremic syndrome with DGKE deficiency - - Disease - - - - - - - - - - 688581 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=688581 - Midface hypoplasia-hearing impairment-elliptocytosis-nephrocalcinosis syndrome - - Malformation syndrome - - - - - - - - 1046 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1046 - Lethal hemolytic anemia-genital anomalies syndrome - - Malformation syndrome - - - - - - - - 79293 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79293 - Familial LCAT deficiency - - Clinical subtype - - - - - - - - 86818 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86818 - Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome - - Disease - - - - - - - - 98364 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98364 - Rare constitutional hemolytic anemia due to a red cell membrane anomaly - - Category - - - - - - 822 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=822 - Hereditary spherocytosis - - Disease - - - - - - - - 288 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=288 - Hereditary elliptocytosis - - Disease - - - - - - - - 93610 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93610 - Distal renal tubular acidosis with anemia - - Clinical subtype - - - - - - - - 98365 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98365 - Hereditary stomatocytosis - - Clinical group - - - - - - 3203 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3203 - Overhydrated hereditary stomatocytosis - - Disease - - - - - - - - 3202 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3202 - Dehydrated hereditary stomatocytosis - - Disease - - - - - - - - 71275 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71275 - Rh deficiency syndrome - - Disease - - - - - - - - 90044 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90044 - Familial pseudohyperkalemia - - Disease - - - - - - - - 98868 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98868 - Southeast Asian ovalocytosis - - Disease - - - - - - - - 168577 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168577 - Hereditary cryohydrocytosis with reduced stomatin - - Disease - - - - - - - - 398088 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398088 - Hereditary cryohydrocytosis with normal stomatin - - Disease - - - - - - - - - - 98366 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98366 - Constitutional hemolytic anemia due to acanthocytosis - - Category - - - - - - 14 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=14 - Abetalipoproteinemia - - Disease - - - - - - - - 59306 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=59306 - McLeod neuroacanthocytosis syndrome - - Disease - - - - - - - - - - 169464 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169464 - Primary CD59 deficiency - - Disease - - - - - - - - - - 98369 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98369 - Rare constitutional hemolytic anemia due to an enzyme disorder - - Category - - - - - - 659672 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=659672 - Harderoporphyria - - Disease - - - - - - - - 79277 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79277 - Congenital erythropoietic porphyria - - Disease - - - - - - - - 98370 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98370 - Hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies - - Category - - - - - - 32 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=32 - Glutathione synthetase deficiency - - Disease - - - - - - 289846 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289846 - Glutathione synthetase deficiency with 5-oxoprolinuria - - Clinical subtype - - - - - - - - 289849 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289849 - Glutathione synthetase deficiency without 5-oxoprolinuria - - Clinical subtype - - - - - - - - - - 33574 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33574 - Glutamate-cysteine ligase deficiency - - Disease - - - - - - - - 90030 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90030 - Hemolytic anemia due to glutathione reductase deficiency - - Disease - - - - - - - - 99135 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99135 - 6-phosphogluconate dehydrogenase deficiency - - Disease - - - - - - - - - - 98372 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98372 - Hemolytic anemia due to a disorder of glycolytic enzymes - - Category - - - - - - 371 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=371 - Glycogen storage disease due to muscle phosphofructokinase deficiency - - Disease - - - - - - - - 868 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=868 - Triose phosphate-isomerase deficiency - - Disease - - - - - - - - 57 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=57 - Glycogen storage disease due to aldolase A deficiency - - Disease - - - - - - - - 713 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=713 - Glycogen storage disease due to phosphoglycerate kinase 1 deficiency - - Disease - - - - - - - - 766 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=766 - Hemolytic anemia due to red cell pyruvate kinase deficiency - - Disease - - - - - - - - 712 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=712 - Hemolytic anemia due to glucophosphate isomerase deficiency - - Disease - - - - - - - - 714 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=714 - Hemolytic anemia due to diphosphoglycerate mutase deficiency - - Disease - - - - - - - - 90031 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90031 - Non-spherocytic hemolytic anemia due to hexokinase deficiency - - Disease - - - - - - - - 466026 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466026 - Class I glucose-6-phosphate dehydrogenase deficiency - - Disease - - - - - - - - - - 98374 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98374 - Hemolytic anemia due to an erythrocyte nucleotide metabolism disorder - - Category - - - - - - 35120 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35120 - Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency - - Disease - - - - - - - - 86817 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86817 - Hemolytic anemia due to adenylate kinase deficiency - - Disease - - - - - - - - 99138 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99138 - Hemolytic anemia due to erythrocyte adenosine deaminase overproduction - - Disease - - - - - - - - - - 79278 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79278 - Autosomal erythropoietic protoporphyria - - Disease - - - - - - - - - - - - 248296 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=248296 - Constitutional deficiency anemia - - Category - - - - - - 98360 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98360 - Constitutional anemia due to iron metabolism disorder - - Category - - - - - - 1195 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1195 - Congenital atransferrinemia - - Disease - - - - - - - - 83642 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83642 - Microcytic anemia with liver iron overload - - Disease - - - - - - - - 209981 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209981 - IRIDA syndrome - - Disease - - - - - - - - 300298 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300298 - Severe congenital hypochromic anemia with ringed sideroblasts - - Disease - - - - - - - - 48818 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=48818 - Aceruloplasminemia - - Disease - - - - - - - - - - 98396 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98396 - Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder - - Category - - - - - - 26 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=26 - Methylmalonic acidemia with homocystinuria - - Disease - - - - - - 79282 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79282 - Methylmalonic acidemia with homocystinuria, type cblC - - Clinical subtype - - - - - - - - 79283 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79283 - Methylmalonic acidemia with homocystinuria, type cblD - - Clinical subtype - - - - - - - - 79284 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79284 - Methylmalonic acidemia with homocystinuria type cblF - - Clinical subtype - - - - - - - - 369955 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369955 - Methylmalonic acidemia with homocystinuria, type cblJ - - Clinical subtype - - - - - - - - 369962 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369962 - Methylmalonic acidemia with homocystinuria, type cblX - - Clinical subtype - - - - - - - - - - 859 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=859 - Transcobalamin deficiency - - Disease - - - - - - - - 332 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=332 - Congenital intrinsic factor deficiency - - Disease - - - - - - - - 622 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=622 - Homocystinuria without methylmalonic aciduria - - Disease - - - - - - 2169 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2169 - Methylcobalamin deficiency type cblE - - Clinical subtype - - - - - - - - 2170 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2170 - Methylcobalamin deficiency type cblG - - Clinical subtype - - - - - - - - 308380 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308380 - Methylcobalamin deficiency type cblDv1 - - Clinical subtype - - - - - - - - - - 35858 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35858 - Imerslund-Gräsbeck syndrome - - Disease - - - - - - - - - - 98408 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98408 - Constitutional megaloblastic anemia due to folate metabolism disorder - - Category - - - - - - 51208 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=51208 - Formiminoglutamic aciduria - - Disease - - - - - - - - 90045 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90045 - Hereditary folate malabsorption - - Disease - - - - - - - - 319651 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319651 - Constitutional megaloblastic anemia with severe neurologic disease - - Disease - - - - - - - - 658813 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=658813 - Combined immunodeficiency-megaloblastic anemia due to methylenetetrahydrofolate dehydrogenase 1 deficiency - - Disease - - - - - - - - 661412 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=661412 - Megaloblastic anemia-immunodeficiency due to folate transporter 1 deficiency - - Disease - - - - - - - - - - 98415 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98415 - Vitamin B12- and folate-independent constitutional megaloblastic anemia - - Category - - - - - - 30 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=30 - Hereditary orotic aciduria - - Disease - - - - - - - - 49827 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=49827 - Thiamine-responsive megaloblastic anemia syndrome - - Disease - - - - - - - - 206428 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206428 - Hypoxanthine-guanine phosphoribosyltransferase deficiency - - Clinical group - - - - - - 510 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=510 - Lesch-Nyhan syndrome - - Disease - - - - - - - - 79233 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79233 - Hypoxanthine guanine phosphoribosyltransferase partial deficiency - - Disease - - - - - - - - - - - - - - 293830 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293830 - Constitutional dyserythropoietic anemia - - Category - - - - - - 85 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85 - Congenital dyserythropoietic anemia - - Clinical group - - - - - - 67044 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=67044 - Thrombocytopenia with congenital dyserythropoietic anemia - - Disease - - - - - - - - 98869 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98869 - Congenital dyserythropoietic anemia type I - - Disease - - - - - - - - 98870 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98870 - Congenital dyserythropoietic anemia type III - - Disease - - - - - - - - 98873 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98873 - Congenital dyserythropoietic anemia type II - - Disease - - - - - - - - 293825 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293825 - Congenital dyserythropoietic anemia type IV - - Disease - - - - - - - - 363727 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363727 - X-linked dyserythropoietic anemia with abnormal platelets and neutropenia - - Disease - - - - - - - - - - 77297 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77297 - Majeed syndrome - - Disease - - - - - - - - 199337 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199337 - Pancreatic insufficiency-anemia-hyperostosis syndrome - - Disease - - - - - - - - - - - - 183654 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183654 - Rare genetic coagulation disorder - - Category - - - - - - 68334 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=68334 - Rare hemorrhagic disorder due to a constitutional coagulation factors defect - - Category - - - - - - 600691 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=600691 - Combined deficiency of factor VII and factor X - - Disease - - - - - - - - 3151 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3151 - Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome - - Disease - - - - - - - - 448 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=448 - Hemophilia - - Clinical group - - - - - - 98878 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98878 - Hemophilia A - - Disease - - - - - - 169802 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169802 - Severe hemophilia A - - Clinical subtype - - - - - - - - 169805 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169805 - Moderate hemophilia A - - Clinical subtype - - - - - - - - 169808 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169808 - Mild hemophilia A - - Clinical subtype - - - - - - - - 177926 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=177926 - Bleeding disorder in hemophilia A carriers - - Clinical subtype - - - - - - - - - - 98879 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98879 - Hemophilia B - - Disease - - - - - - 169793 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169793 - Severe hemophilia B - - Clinical subtype - - - - - - - - 169796 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169796 - Moderate hemophilia B - - Clinical subtype - - - - - - - - 169799 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169799 - Mild hemophilia B - - Clinical subtype - - - - - - - - 177929 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=177929 - Bleeding disorder in hemophilia B carriers - - Clinical subtype - - - - - - - - 617930 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=617930 - Hemophilia B Leyden - - Clinical subtype - - - - - - - - - - - - 326 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=326 - Congenital factor V deficiency - - Disease - - - - - - - - 335 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=335 - Congenital fibrinogen deficiency - - Disease - - - - - - 98880 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98880 - Familial afibrinogenemia - - Clinical subtype - - - - - - - - 98881 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98881 - Familial dysfibrinogenemia - - Clinical subtype - - - - - - - - 101041 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101041 - Familial hypofibrinogenemia - - Clinical subtype - - - - - - - - 248408 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=248408 - Familial hypodysfibrinogenemia - - Clinical subtype - - - - - - - - - - 79 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79 - Congenital alpha2-antiplasmin deficiency - - Disease - - - - - - - - 331 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=331 - Congenital factor XIII deficiency - - Disease - - - - - - - - 903 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=903 - Von Willebrand disease - - Disease - - - - - - 166078 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166078 - Von Willebrand disease type 1 - - Clinical subtype - - - - - - - - 166081 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166081 - Von Willebrand disease type 2 - - Clinical subtype - - - - - - 166084 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166084 - Von Willebrand disease type 2A - - Clinical subtype - - - - - - - - 166087 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166087 - Von Willebrand disease type 2B - - Clinical subtype - - - - - - - - 166090 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166090 - Von Willebrand disease type 2M - - Clinical subtype - - - - - - - - 166093 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166093 - Von Willebrand disease type 2N - - Clinical subtype - - - - - - - - - - 166096 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166096 - Von Willebrand disease type 3 - - Clinical subtype - - - - - - - - - - 329 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329 - Congenital factor XI deficiency - - Disease - - - - - - - - 465 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=465 - Congenital plasminogen activator inhibitor type 1 deficiency - - Disease - - - - - - - - 483 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=483 - Congenital high-molecular-weight kininogen deficiency - - Disease - - - - - - - - 749 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=749 - Congenital prekallikrein deficiency - - Disease - - - - - - - - 35909 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35909 - Combined deficiency of factor V and factor VIII - - Disease - - - - - - - - 169826 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169826 - Congenital vitamin K-dependent coagulation factors deficiency - - Category - - - - - - 327 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=327 - Congenital factor VII deficiency - - Disease - - - - - - - - 325 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325 - Congenital factor II deficiency - - Disease - - - - - - - - 328 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=328 - Congenital factor X deficiency - - Disease - - - - - - - - 98434 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98434 - Hereditary combined deficiency of vitamin K-dependent clotting factors - - Disease - - - - - - - - - - 178396 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178396 - Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation - - Disease - - - - - - - - 599519 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=599519 - Factor V short isoforms-related bleeding disorder - - Disease - - - - - - 391320 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391320 - East Texas bleeding disorder - - Etiological subtype - - - - - - - - 599579 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=599579 - Factor V Amsterdam bleeding disorder - - Etiological subtype - - - - - - - - 600194 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=600194 - Factor V Atlanta bleeding disorder - - Etiological subtype - - - - - - - - - - 436169 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436169 - Thrombomodulin-related bleeding disorder - - Disease - - - - - - - - - - 71202 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71202 - Rare hemorrhagic disorder due to a constitutional platelet anomaly - - Category - - - - - - 275729 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275729 - Rare hemorrhagic disorder due to a constitutional thrombocytopenia - - Category - - - - - - 477794 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477794 - Syndromic constitutional thrombocytopenia - - Category - - - - - - 674653 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=674653 - Actinomyopathy-associated syndromic thrombocytopenia - - Disease - - - - - - - - 652522 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=652522 - Periodic fever-immunodeficiency-thrombocytopenia syndrome - - Disease - - - - - - - - 480851 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480851 - Hereditary thrombocytopenia with early-onset myelofibrosis - - Disease - - - - - - - - 3204 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3204 - Stormorken-Sjaastad-Langslet syndrome - - Disease - - - - - - - - 3320 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3320 - Thrombocytopenia-absent radius syndrome - - Malformation syndrome - - - - - - - - 71289 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71289 - Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome - - Malformation syndrome - - - - - - - - 182050 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=182050 - MYH9-related syndromic thrombocytopenia - - Disease - - - - - - - - 602 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=602 - GNE myopathy - - Disease - - - - - - - - 2308 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2308 - Jacobsen syndrome - - Malformation syndrome - - - - - - - - 220448 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220448 - Macrothrombocytopenia with mitral valve insufficiency - - Disease - - - - - - - - 734 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=734 - Alpha delta granule deficiency - - Disease - - - - - - - - 98456 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98456 - Dense granule disease - - Category - - - - - - 906 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=906 - Wiskott-Aldrich syndrome - - Disease - - - - - - - - 167 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=167 - Chédiak-Higashi syndrome - - Disease - - - - - - - - 71290 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71290 - Familial platelet disorder with associated myeloid malignancy - - Disease - - - - - - - - 79430 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79430 - Hermansky-Pudlak syndrome - - Disease - - - - - - 183678 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183678 - Hermansky-Pudlak syndrome due to AP-3 deficiency - - Clinical subtype - - - - - - 664500 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=664500 - Hermansky-Pudlak syndrome due to AP3B1 deficiency - - Clinical subtype - - - - - - - - 664511 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=664511 - Early-onset severe Hermansky-Pudlak syndrome with hearing loss, due to AP3D1 deficiency - - Clinical subtype - - - - - - - - - - 231500 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231500 - Hermansky-Pudlak syndrome due to BLOC-3 deficiency - - Clinical subtype - - - - - - - - 231512 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231512 - Hermansky-Pudlak syndrome due to BLOC-2 deficiency - - Clinical subtype - - - - - - - - 231531 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231531 - Hermansky-Pudlak syndrome due to BLOC-1 deficiency - - Clinical subtype - - - - - - - - - - - - 487796 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=487796 - Takenouchi-Kosaki syndrome - - Malformation syndrome - - - - - - - - 494444 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=494444 - DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome - - Disease - - - - - - - - 261323 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261323 - 21q22.11q22.12 microdeletion syndrome - - Malformation syndrome - - - - - - - - - - 477797 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477797 - Isolated constitutional thrombocytopenia - - Category - - - - - - 220452 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220452 - Isolated hereditary giant platelet disorder - - Category - - - - - - 363727 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363727 - X-linked dyserythropoietic anemia with abnormal platelets and neutropenia - - Disease - - - - - - - - 438207 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=438207 - Severe autosomal recessive macrothrombocytopenia - - Disease - - - - - - - - 274 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=274 - Bernard-Soulier syndrome - - Disease - - - - - - - - 67044 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=67044 - Thrombocytopenia with congenital dyserythropoietic anemia - - Disease - - - - - - - - 140957 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140957 - Autosomal dominant macrothrombocytopenia - - Disease - - - - - - - - 98455 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98455 - Alpha granule disease - - Category - - - - - - 851 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=851 - Paris-Trousseau thrombocytopenia - - Disease - - - - - - - - 721 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=721 - Gray platelet syndrome - - Disease - - - - - - - - 220436 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220436 - Quebec platelet disorder - - Disease - - - - - - - - 370127 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370127 - Medich giant platelet syndrome - - Disease - - - - - - - - 370131 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370131 - White platelet syndrome - - Disease - - - - - - - - - - - - 268322 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268322 - Hereditary thrombocytopenia with normal platelets - - Disease - - - - - - 852 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=852 - X-linked thrombocytopenia with normal platelets - - Etiological subtype - - - - - - - - 168629 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168629 - Autosomal thrombocytopenia with normal platelets - - Etiological subtype - - - - - - - - - - 71290 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71290 - Familial platelet disorder with associated myeloid malignancy - - Disease - - - - - - - - 3319 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3319 - Congenital amegakaryocytic thrombocytopenia - - Disease - - - - - - - - 220443 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220443 - Bleeding diathesis due to thromboxane synthesis deficiency - - Disease - - - - - - - - 248340 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=248340 - Isolated delta-storage pool disease - - Disease - - - - - - - - 466806 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466806 - Autosomal dominant thrombocytopenia with platelet secretion defect - - Disease - - - - - - - - 566192 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=566192 - Congenital autosomal recessive small-platelet thrombocytopenia - - Disease - - - - - - - - - - - - 275736 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275736 - Rare hemorrhagic disorder due to a qualitative platelet defect - - Category - - - - - - 849 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=849 - Glanzmann thrombasthenia - - Disease - - - - - - - - 477787 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477787 - Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder - - Disease - - - - - - - - 806 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=806 - Scott syndrome - - Disease - - - - - - - - 36355 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36355 - Bleeding disorder due to P2Y12 defect - - Disease - - - - - - - - 52530 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52530 - Pseudo-von Willebrand disease - - Disease - - - - - - - - 73271 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73271 - Bleeding diathesis due to a collagen receptor defect - - Disease - - - - - - 98885 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98885 - Bleeding diathesis due to glycoprotein VI deficiency - - Etiological subtype - - - - - - - - 98886 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98886 - Bleeding diathesis due to integrin alpha2-beta1 deficiency - - Etiological subtype - - - - - - - - - - 420566 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420566 - Bleeding disorder due to CalDAG-GEFI deficiency - - Disease - - - - - - - - - - - - 93583 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93583 - Congenital thrombotic thrombocytopenic purpura - - Clinical subtype - - - - - - - - 248361 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=248361 - Rare thrombotic disorder due to a constitutional coagulation factors defect - - Category - - - - - - 330 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=330 - Congenital factor XII deficiency - - Disease - - - - - - - - 3324 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3324 - Familial thrombomodulin anomalies - - Disease - - - - - - - - 83639 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83639 - Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency - - Disease - - - - - - - - 217454 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217454 - Rare hereditary thrombophilia - - Clinical group - - - - - - 743 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=743 - Severe hereditary thrombophilia due to congenital protein S deficiency - - Disease - - - - - - - - 745 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=745 - Severe hereditary thrombophilia due to congenital protein C deficiency - - Disease - - - - - - - - 82 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=82 - Hereditary thrombophilia due to congenital antithrombin deficiency - - Disease - - - - - - - - 217467 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217467 - Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency - - Disease - - - - - - - - - - - - 248401 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=248401 - Rare thrombotic disorder due to a constitutional platelet anomaly - - Category - - - - - - 71493 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71493 - Familial thrombocytosis - - Disease - - - - - - - - 329319 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329319 - Thrombocythemia with distal limb defects - - Disease - - - - - - - - - - - - 250165 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=250165 - Genetic polycythemia - - Category - - - - - - 324299 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324299 - Multiple paragangliomas associated with polycythemia - - Disease - - - - - - - - 90042 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90042 - Primary familial polycythemia - - Disease - - - - - - - - 98428 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98428 - Secondary polycythemia - - Category - - - - - - 238536 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238536 - Congenital secondary polycythemia - - Category - - - - - - 238557 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238557 - Chuvash erythrocytosis - - Disease - - - - - - - - 247378 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247378 - Autosomal recessive secondary polycythemia not associated with VHL gene - - Disease - - - - - - - - 247511 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247511 - Autosomal dominant secondary polycythemia - - Disease - - - - - - - - - - - - - - 440731 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=440731 - L-ferritin deficiency - - Biological anomaly - - - - - - - - - - 165652 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=165652 - Rare genetic gastroenterological disease - - Category - - - - - - 165655 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=165655 - Genetic intestinal disease - - Category - - - - - - 566175 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=566175 - Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome - - Disease - - - - - - - - 1116 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1116 - Aplasia cutis congenita-intestinal lymphangiectasia syndrome - - Disease - - - - - - - - 90362 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90362 - Primary intestinal lymphangiectasia - - Disease - - - - - - - - 104003 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=104003 - Congenital intestinal transport defect - - Category - - - - - - 469 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=469 - Hereditary fructose intolerance - - Disease - - - - - - - - 35710 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35710 - Glucose-galactose malabsorption - - Disease - - - - - - - - 53689 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53689 - Congenital chloride diarrhea - - Disease - - - - - - - - 103908 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=103908 - Congenital sodium diarrhea - - Disease - - - - - - - - 563708 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=563708 - Syndromic congenital sodium diarrhea - - Disease - - - - - - - - - - 104004 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=104004 - Intestinal disease due to vitamin absorption anomaly - - Category - - - - - - 35858 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35858 - Imerslund-Gräsbeck syndrome - - Disease - - - - - - - - 90045 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90045 - Hereditary folate malabsorption - - Disease - - - - - - - - - - 104006 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=104006 - Congenital intestinal disease due to an enzymatic defect - - Category - - - - - - 35122 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35122 - Congenital sucrase-isomaltase deficiency - - Disease - - - - - - - - 53690 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53690 - Congenital lactase deficiency - - Disease - - - - - - - - 103907 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=103907 - Chronic diarrhea due to glucoamylase deficiency - - Disease - - - - - - - - 103909 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=103909 - Trehalase deficiency - - Disease - - - - - - - - 168601 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168601 - Congenital enteropathy due to enteropeptidase deficiency - - Disease - - - - - - - - - - 104007 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=104007 - Congenital enteropathy involving intestinal mucosa development - - Category - - - - - - 2290 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2290 - Microvillus inclusion disease - - Disease - - - - - - - - 83620 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83620 - Enteric anendocrinosis - - Disease - - - - - - - - 92050 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=92050 - Congenital tufting enteropathy - - Disease - - - - - - - - 103910 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=103910 - Congenital enterocyte heparan sulfate deficiency - - Disease - - - - - - - - - - 104009 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=104009 - Rare disease involving intestinal motility - - Category - - - - - - 388 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=388 - Hirschsprung disease - - Disease - - - - - - - - 897 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=897 - Waardenburg-Shah syndrome - - Disease - - - - - - - - 1876 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1876 - Oculogastrointestinal muscular dystrophy - - Disease - - - - - - - - 2604 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2604 - Familial visceral myopathy - - Disease - - - - - - - - 2241 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2241 - Megacystis-microcolon-intestinal hypoperistalsis syndrome - - Malformation syndrome - - - - - - - - 2978 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2978 - Chronic intestinal pseudoobstruction syndrome - - Clinical syndrome - - - - - - 99811 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99811 - Neuronal intestinal pseudoobstruction - - Etiological subtype - - - - - - - - 104077 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=104077 - Myopathic intestinal pseudoobstruction - - Etiological subtype - - - - - - - - 104078 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=104078 - Unclassified intestinal pseudoobstruction - - Etiological subtype - - - - - - - - - - 163746 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163746 - Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease - - Disease - - - - - - - - 314373 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314373 - Chronic infantile diarrhea due to guanylate cyclase 2C overactivity - - Disease - - - - - - - - 314376 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314376 - Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency - - Disease - - - - - - - - 404463 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404463 - Multisystemic smooth muscle dysfunction syndrome - - Disease - - - - - - - - 2150 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2150 - Hirschsprung disease-type D brachydactyly syndrome - - Malformation syndrome - - - - - - - - 2153 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2153 - Hirschsprung disease-nail hypoplasia-dysmorphism syndrome - - Malformation syndrome - - - - - - - - 2155 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2155 - Hirschsprung disease-deafness-polydactyly syndrome - - Malformation syndrome - - - - - - - - 2151 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2151 - Hirschsprung disease-ganglioneuroblastoma syndrome - - Malformation syndrome - - - - - - - - 110 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=110 - Bardet-Biedl syndrome - - Disease - - - - - - - - 66629 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66629 - Goldberg-Shprintzen megacolon syndrome - - Malformation syndrome - - - - - - - - 99803 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99803 - Haddad syndrome - - Malformation syndrome - - - - - - - - - - 104013 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=104013 - Metabolic disease with intestinal involvement - - Category - - - - - - 699 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699 - Pearson syndrome - - Disease - - - - - - - - 298 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=298 - Mitochondrial neurogastrointestinal encephalomyopathy - - Disease - - - - - - - - 35698 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35698 - Mitochondrial DNA depletion syndrome - - Category - - - - - - 254803 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254803 - Mitochondrial DNA depletion syndrome, encephalomyopathic form - - Clinical group - - - - - - 1933 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1933 - Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria - - Disease - - - - - - - - 17 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=17 - Fatal infantile lactic acidosis with methylmalonic aciduria - - Disease - - - - - - - - 255235 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=255235 - Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy - - Disease - - - - - - - - 369897 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369897 - Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies - - Disease - - - - - - - - - - 254871 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254871 - Mitochondrial DNA depletion syndrome, hepatocerebral form - - Clinical group - - - - - - 1186 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1186 - Infantile-onset spinocerebellar ataxia - - Disease - - - - - - - - 726 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=726 - Alpers-Huttenlocher syndrome - - Disease - - - - - - - - 255229 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=255229 - Navajo neurohepatopathy - - Disease - - - - - - - - 279934 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=279934 - Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency - - Disease - - - - - - - - 363534 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363534 - Mitochondrial DNA depletion syndrome, hepatocerebrorenal form - - Disease - - - - - - - - - - 254875 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254875 - Mitochondrial DNA depletion syndrome, myopathic form - - Disease - - - - - - - - 313772 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313772 - Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome - - Disease - - - - - - - - - - 371188 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=371188 - Congenital disorder of glycosylation with intestinal involvement - - Category - - - - - - 79319 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79319 - MPI-CDG - - Disease - - - - - - - - 79320 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79320 - ALG6-CDG - - Disease - - - - - - - - 79325 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79325 - ALG8-CDG - - Disease - - - - - - - - - - - - 294023 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294023 - Neonatal inflammatory skin and bowel disease - - Disease - - - - - - - - 363300 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363300 - Genetic intractable diarrhea of infancy - - Category - - - - - - 563708 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=563708 - Syndromic congenital sodium diarrhea - - Disease - - - - - - - - 103908 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=103908 - Congenital sodium diarrhea - - Disease - - - - - - - - 2290 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2290 - Microvillus inclusion disease - - Disease - - - - - - - - 1670 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1670 - Chronic diarrhea with villous atrophy - - Disease - - - - - - - - 84064 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=84064 - Syndromic diarrhea - - Disease - - - - - - - - 92050 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=92050 - Congenital tufting enteropathy - - Disease - - - - - - - - 137622 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137622 - Intractable diarrhea-choanal atresia-eye anomalies syndrome - - Malformation syndrome - - - - - - - - 329242 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329242 - Congenital chronic diarrhea with protein-losing enteropathy - - Disease - - - - - - - - 522043 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=522043 - Syndromic autoimmune enteropathy - - Clinical group - - - - - - 228426 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228426 - Syndromic multisystem autoimmune disease due to Itch deficiency - - Disease - - - - - - - - 391487 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391487 - STAT1-related autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome - - Disease - - - - - - - - 438159 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=438159 - STAT3-related early-onset multisystem autoimmune disease - - Disease - - - - - - - - 169100 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169100 - Immunodeficiency due to CD25 deficiency - - Disease - - - - - - - - 220465 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220465 - Laron syndrome with immunodeficiency - - Disease - - - - - - - - 436159 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436159 - Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency - - Disease - - - - - - - - 445018 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=445018 - Combined immunodeficiency due to LRBA deficiency - - Disease - - - - - - - - 3453 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3453 - Autoimmune polyendocrinopathy type 1 - - Disease - - - - - - - - 37042 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=37042 - Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome - - Disease - - - - - - - - - - - - 363306 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363306 - Genetic intestinal disease due to fat malabsorption - - Category - - - - - - 14 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=14 - Abetalipoproteinemia - - Disease - - - - - - - - 71 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71 - Chylomicron retention disease - - Disease - - - - - - - - 37 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=37 - Acrodermatitis enteropathica - - Disease - - - - - - - - - - 363314 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363314 - Genetic intestinal polyposis - - Category - - - - - - 733 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=733 - Familial adenomatous polyposis - - Disease - - - - - - - - 2869 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2869 - Peutz-Jeghers syndrome - - Disease - - - - - - - - 2929 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2929 - Juvenile polyposis syndrome - - Disease - - - - - - 79076 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79076 - Juvenile polyposis of infancy - - Clinical subtype - - - - - - - - 329971 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329971 - Generalized juvenile polyposis/juvenile polyposis coli - - Clinical subtype - - - - - - - - - - 109 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=109 - Bannayan-Riley-Ruvalcaba syndrome - - Clinical subtype - - - - - - - - 157794 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157794 - Hereditary mixed polyposis syndrome - - Disease - - - - - - - - 157798 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157798 - Serrated polyposis syndrome - - Disease - - - - - - - - 220460 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220460 - Attenuated familial adenomatous polyposis - - Disease - - - - - - - - - - 365563 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=365563 - Primary short bowel syndrome - - Clinical group - - - - - - 2301 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2301 - Congenital short bowel syndrome - - Morphological anomaly - - - - - - - - 1201 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1201 - Small bowel atresia - - Morphological anomaly - - - - - - - - - - 435988 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435988 - Chronic atrial and intestinal dysrhythmia syndrome - - Disease - - - - - - - - 477661 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477661 - IL21-related infantile inflammatory bowel disease - - Disease - - - - - - - - 477787 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477787 - Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder - - Disease - - - - - - - - 529974 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=529974 - Immune dysregulation with inflammatory bowel disease - - Clinical group - - - - - - 238569 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238569 - Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome - - Disease - - - - - - - - 529977 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=529977 - Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome - - Disease - - - - - - - - 565788 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=565788 - Infantile inflammatory bowel disease with neurological involvement - - Disease - - - - - - - - 529980 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=529980 - Inflammatory bowel disease-recurrent sinopulmonary infections syndrome - - Disease - - - - - - - - 676125 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=676125 - X-linked immune dysregulation with inflammatory bowel disease due to ELF4 deficiency - - Disease - - - - - - - - 695807 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=695807 - Immunodeficiency-systemic inflammation-lymphoma predisposition syndrome - - Disease - - - - - - - - - - 468635 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=468635 - Cryptogenic multifocal ulcerous stenosing enteritis - - Disease - - - - - - - - 468641 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=468641 - Chronic enteropathy associated with SLCO2A1 gene - - Disease - - - - - - - - 538934 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=538934 - X-linked lymphoproliferative disease due to XIAP deficiency - - Disease - - - - - - - - 597201 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=597201 - TRIM22-related inflammatory bowel disease - - Disease - - - - - - - - 597887 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=597887 - ALPI-related inflammatory bowel disease - - Disease - - - - - - - - - - 165658 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=165658 - Genetic gastro-esophageal disease - - Category - - - - - - 2198 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2198 - Palmoplantar keratoderma-esophageal carcinoma syndrome - - Disease - - - - - - - - 2575 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2575 - Cystic fibrosis-gastritis-megaloblastic anemia syndrome - - Disease - - - - - - - - 26106 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=26106 - Hereditary diffuse gastric cancer - - Disease - - - - - - - - 401945 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401945 - Moyamoya disease with early-onset achalasia - - Disease - - - - - - - - 2069 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2069 - Gastrocutaneous syndrome - - Disease - - - - - - - - - - 165661 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=165661 - Genetic pancreatic disease - - Category - - - - - - 586 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=586 - Cystic fibrosis - - Disease - - - - - - - - 676 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=676 - Autosomal dominant hereditary chronic pancreatitis - - Disease - - - - - - - - 1333 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1333 - Familial pancreatic carcinoma - - Disease - - - - - - - - 811 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=811 - Shwachman-Diamond syndrome - - Disease - - - - - - - - 199337 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199337 - Pancreatic insufficiency-anemia-hyperostosis syndrome - - Disease - - - - - - - - 309028 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309028 - Disorder of lipid absorption and transport - - Category - - - - - - 309031 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309031 - Pancreatic triacylglycerol lipase deficiency - - Disease - - - - - - - - 309108 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309108 - Pancreatic colipase deficiency - - Disease - - - - - - - - 309111 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309111 - Combined pancreatic lipase-colipase deficiency - - Disease - - - - - - - - - - 700124 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700124 - Autosomal recessive hereditary chronic pancreatitis - - Disease - - - - - - - - 456312 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=456312 - Infantile multisystem neurologic-endocrine-pancreatic disease - - Disease - - - - - - - - - - - - 183524 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183524 - Rare genetic bone disease - - Category - - - - - - 93448 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93448 - Lysosomal storage disease with skeletal involvement - - Category - - - - - - 61 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=61 - Alpha-mannosidosis - - Disease - - - - - - 309282 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309282 - Alpha-mannosidosis, infantile form - - Clinical subtype - - - - - - - - 309288 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309288 - Alpha-mannosidosis, adult form - - Clinical subtype - - - - - - - - - - 93 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93 - Aspartylglucosaminuria - - Disease - - - - - - - - 585 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=585 - Multiple sulfatase deficiency - - Disease - - - - - - - - 118 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=118 - Beta-mannosidosis - - Disease - - - - - - - - 349 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=349 - Fucosidosis - - Disease - - - - - - - - 583 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=583 - Mucopolysaccharidosis type 6 - - Disease - - - - - - 276212 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276212 - Mucopolysaccharidosis type 6, rapidly progressing - - Clinical subtype - - - - - - - - 276223 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276223 - Mucopolysaccharidosis type 6, slowly progressing - - Clinical subtype - - - - - - - - - - 576 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=576 - Mucolipidosis type II - - Disease - - - - - - - - 577 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=577 - Mucolipidosis type III - - Disease - - - - - - 423461 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423461 - Mucolipidosis type III alpha/beta - - Clinical subtype - - - - - - - - 423470 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423470 - Mucolipidosis type III gamma - - Clinical subtype - - - - - - - - - - 584 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=584 - Mucopolysaccharidosis type 7 - - Disease - - - - - - - - 580 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=580 - Mucopolysaccharidosis type 2 - - Disease - - - - - - 217085 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217085 - Mucopolysaccharidosis type 2, severe form - - Clinical subtype - - - - - - - - 217093 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217093 - Mucopolysaccharidosis type 2, attenuated form - - Clinical subtype - - - - - - - - - - 579 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=579 - Mucopolysaccharidosis type 1 - - Disease - - - - - - 93473 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93473 - Hurler syndrome - - Clinical subtype - - - - - - - - 93474 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93474 - Scheie syndrome - - Clinical subtype - - - - - - - - 93476 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93476 - Hurler-Scheie syndrome - - Clinical subtype - - - - - - - - - - 351 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=351 - Galactosialidosis - - Disease - - - - - - - - 309324 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309324 - Free sialic acid storage disease, infantile form - - Clinical subtype - - - - - - - - 354 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=354 - GM1 gangliosidosis - - Disease - - - - - - 79255 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79255 - GM1 gangliosidosis type 1 - - Clinical subtype - - - - - - - - 79256 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79256 - GM1 gangliosidosis type 2 - - Clinical subtype - - - - - - - - 79257 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79257 - GM1 gangliosidosis type 3 - - Clinical subtype - - - - - - - - - - 581 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=581 - Mucopolysaccharidosis type 3 - - Disease - - - - - - 79269 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79269 - Sanfilippo syndrome type A - - Etiological subtype - - - - - - - - 79270 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79270 - Sanfilippo syndrome type B - - Etiological subtype - - - - - - - - 79271 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79271 - Sanfilippo syndrome type C - - Etiological subtype - - - - - - - - 79272 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79272 - Sanfilippo syndrome type D - - Etiological subtype - - - - - - - - - - 582 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=582 - Mucopolysaccharidosis type 4 - - Disease - - - - - - 309297 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309297 - Mucopolysaccharidosis type 4A - - Clinical subtype - - - - - - - - 309310 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309310 - Mucopolysaccharidosis type 4B - - Clinical subtype - - - - - - - - - - 67041 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=67041 - Hyaluronidase deficiency - - Disease - - - - - - - - 87876 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=87876 - Sialidosis type 2 - - Disease - - - - - - 93399 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93399 - Juvenile sialidosis type 2 - - Clinical subtype - - - - - - - - 93400 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93400 - Congenital sialidosis type 2 - - Clinical subtype - - - - - - - - - - 662216 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662216 - Mucopolysaccharidosis type 10 - - Disease - - - - - - - - - - 235832 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=235832 - Congenital vascular bone syndrome - - Clinical group - - - - - - 2346 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2346 - Angioosteohypertrophic syndrome - - Clinical group - - - - - - 90308 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90308 - Capillary-lymphatic-venous malformation with segmental distribution - - Disease - - - - - - - - 90307 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90307 - Parkes Weber syndrome - - Disease - - - - - - - - - - 73 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73 - Gorham-Stout disease - - Malformation syndrome - - - - - - - - 75508 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75508 - Angioosteohypotrophic syndrome - - Malformation syndrome - - - - - - - - 140436 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140436 - Primary intraosseous venous malformation - - Disease - - - - - - - - - - 364526 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=364526 - Primary bone dysplasia - - Category - - - - - - 498445 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498445 - Genetic inflammatory or rheumatoid-like osteoarthropathy - - Category - - - - - - 1159 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1159 - Progressive pseudorheumatoid dysplasia - - Disease - - - - - - - - 498474 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498474 - Hyaline fibromatosis syndrome - - Disease - - - - - - 2176 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2176 - Infantile systemic hyalinosis - - Clinical subtype - - - - - - - - 2028 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2028 - Juvenile hyaline fibromatosis - - Clinical subtype - - - - - - - - - - 1451 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1451 - CINCA syndrome - - Disease - - - - - - - - 210115 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210115 - Sterile multifocal osteomyelitis with periostitis and pustulosis - - Disease - - - - - - - - 53715 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53715 - Familial tumoral calcinosis - - Disease - - - - - - 306658 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306658 - Familial normophosphatemic tumoral calcinosis - - Clinical subtype - - - - - - - - 306661 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306661 - Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome - - Clinical subtype - - - - - - - - - - 77297 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77297 - Majeed syndrome - - Disease - - - - - - - - - - 498448 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498448 - Overgrowth or tall stature syndrome with skeletal involvement - - Category - - - - - - 622925 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=622925 - X-linked severe syndromic thoracic aortic aneurysm and dissection - - Malformation syndrome - - - - - - - - 659387 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=659387 - PRC-2 complex-related overgrowth spectrum - - Clinical group - - - - - - 3447 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3447 - Weaver syndrome - - Malformation syndrome - - - - - - - - 659396 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=659396 - Cohen-Gibson syndrome - - Malformation syndrome - - - - - - - - 659463 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=659463 - Imagawa-Matsumoto syndrome - - Malformation syndrome - - - - - - - - - - 558 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=558 - Marfan syndrome - - Disease - - - - - - 284963 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284963 - Marfan syndrome type 1 - - Clinical subtype - - - - - - - - 284973 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284973 - Marfan syndrome type 2 - - Clinical subtype - - - - - - - - - - 744 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=744 - Proteus syndrome - - Malformation syndrome - - - - - - - - 821 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=821 - Sotos syndrome - - Disease - - - - - - - - 561 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=561 - Marshall-Smith syndrome - - Malformation syndrome - - - - - - - - 140944 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140944 - CLOVES syndrome - - Malformation syndrome - - - - - - - - 115 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=115 - Congenital contractural arachnodactyly - - Malformation syndrome - - - - - - - - 60030 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=60030 - Loeys-Dietz syndrome - - Malformation syndrome - - - - - - - - 498488 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498488 - Overgrowth syndrome with 2q37 translocation - - Malformation syndrome - - - - - - - - 329191 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329191 - Tall stature-long halluces-multiple extra-epiphyses syndrome - - Disease - - - - - - - - 498485 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498485 - Overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome - - Malformation syndrome - - - - - - - - 477831 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477831 - Kosaki overgrowth syndrome - - Malformation syndrome - - - - - - - - 597738 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=597738 - Luscan-Lumish syndrome - - Malformation syndrome - - - - - - - - - - 364536 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=364536 - Primary bone dysplasia with micromelia - - Category - - - - - - 15 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=15 - Achondroplasia - - Disease - - - - - - - - 429 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=429 - Hypochondroplasia - - Disease - - - - - - - - 628 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=628 - Diastrophic dysplasia - - Disease - - - - - - - - 2655 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2655 - Thanatophoric dysplasia - - Disease - - - - - - 1860 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1860 - Thanatophoric dysplasia type 1 - - Clinical subtype - - - - - - - - 93274 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93274 - Thanatophoric dysplasia type 2 - - Clinical subtype - - - - - - - - - - 1422 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1422 - Chondrodysplasia-difference of sex development syndrome - - Malformation syndrome - - - - - - - - 85165 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85165 - Severe achondroplasia-developmental delay-acanthosis nigricans syndrome - - Disease - - - - - - - - - - 364541 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=364541 - Otopalatodigital syndrome spectrum disorder - - Clinical group - - - - - - 90652 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90652 - Otopalatodigital syndrome type 2 - - Malformation syndrome - - - - - - - - 1826 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1826 - Frontometaphyseal dysplasia - - Disease - - - - - - - - 2484 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2484 - Melnick-Needles syndrome - - Malformation syndrome - - - - - - - - 90650 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90650 - Otopalatodigital syndrome type 1 - - Malformation syndrome - - - - - - - - 137834 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137834 - Frank-Ter Haar syndrome - - Disease - - - - - - - - - - 435804 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435804 - Short stature-advanced bone age-early-onset osteoarthritis syndrome - - Disease - - - - - - - - 253 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=253 - Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia - - Clinical group - - - - - - 642099 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642099 - Spondyloepimetaphyseal dysplasia with joint laxity, Beighton type - - Disease - - - - - - - - 664377 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=664377 - MGP-related spondyloepiphyseal dysplasia - - Malformation syndrome - - - - - - - - 2114 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2114 - Hip dysplasia, Beukes type - - Disease - - - - - - - - 800 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=800 - Schwartz-Jampel syndrome - - Disease - - - - - - - - 239 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=239 - Dyggve-Melchior-Clausen disease - - Disease - - - - - - - - 560 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=560 - Marshall syndrome - - Malformation syndrome - - - - - - - - 2635 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2635 - Metatropic dysplasia - - Disease - - - - - - - - 828 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=828 - Stickler syndrome - - Disease - - - - - - 90653 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90653 - Stickler syndrome type 1 - - Clinical subtype - - - - - - - - 90654 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90654 - Stickler syndrome type 2 - - Clinical subtype - - - - - - - - 250984 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=250984 - Autosomal recessive Stickler syndrome - - Clinical subtype - - - - - - - - - - 1159 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1159 - Progressive pseudorheumatoid dysplasia - - Disease - - - - - - - - 1427 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1427 - Autosomal recessive otospondylomegaepiphyseal dysplasia - - Disease - - - - - - - - 1667 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1667 - Wolcott-Rallison syndrome - - Disease - - - - - - - - 1830 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1830 - Schimke immuno-osseous dysplasia - - Disease - - - - - - - - 1865 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1865 - Dyssegmental dysplasia, Silverman-Handmaker type - - Disease - - - - - - - - 485 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=485 - Kniest dysplasia - - Disease - - - - - - - - 3101 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3101 - Richieri Costa-da Silva syndrome - - Malformation syndrome - - - - - - - - 1856 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1856 - Spondyloperipheral dysplasia-short ulna syndrome - - Disease - - - - - - - - 83629 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83629 - Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome - - Disease - - - - - - - - 2619 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2619 - Brachydactylous dwarfism, Mseleni type - - Disease - - - - - - - - 93279 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93279 - Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis - - Disease - - - - - - - - 93282 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93282 - Spondyloepimetaphyseal dysplasia, PAPSS2 type - - Disease - - - - - - - - 93283 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93283 - Spondyloepiphyseal dysplasia, Kimberley type - - Disease - - - - - - - - 93284 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93284 - Spondyloepiphyseal dysplasia tarda - - Disease - - - - - - - - 93346 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93346 - Spondyloepimetaphyseal dysplasia congenita, Strudwick type - - Disease - - - - - - - - 93347 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93347 - Anauxetic dysplasia - - Disease - - - - - - - - 93349 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93349 - X-linked spondyloepimetaphyseal dysplasia - - Disease - - - - - - - - 93351 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93351 - Spondyloepimetaphyseal dysplasia, Irapa type - - Disease - - - - - - - - 93352 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93352 - Spondyloepimetaphyseal dysplasia, Shohat type - - Disease - - - - - - - - 93356 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93356 - Spondyloepimetaphyseal dysplasia, Missouri type - - Disease - - - - - - - - 93357 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93357 - SPONASTRIME dysplasia - - Disease - - - - - - - - 93358 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93358 - Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome - - Disease - - - - - - - - 93360 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93360 - Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type - - Disease - - - - - - - - 94068 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94068 - Spondyloepiphyseal dysplasia congenita - - Disease - - - - - - - - 99642 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99642 - Spondyloepimetaphyseal dysplasia, Handigodu type - - Disease - - - - - - - - 137678 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137678 - Spondyloepiphyseal dysplasia with metatarsal shortening - - Disease - - - - - - - - 156728 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156728 - Spondyloepimetaphyseal dysplasia, matrilin-3 type - - Disease - - - - - - - - 156731 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156731 - Dyssegmental dysplasia, Rolland-Desbuquois type - - Disease - - - - - - - - 157965 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157965 - SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome - - Clinical subtype - - - - - - - - 163649 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163649 - Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome - - Disease - - - - - - - - 163654 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163654 - Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome - - Disease - - - - - - - - 163662 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163662 - Spondyloepiphyseal dysplasia, Reardon type - - Disease - - - - - - - - 163665 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163665 - Spondyloepiphyseal dysplasia tarda, Kohn type - - Disease - - - - - - - - 163668 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163668 - Spondyloepiphyseal dysplasia, MacDermot type - - Malformation syndrome - - - - - - - - 166100 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166100 - Autosomal dominant otospondylomegaepiphyseal dysplasia - - Malformation syndrome - - - - - - - - 168443 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168443 - Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome - - Disease - - - - - - - - 168451 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168451 - Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome - - Disease - - - - - - - - 168454 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168454 - Spondyloepimetaphyseal dysplasia, Geneviève type - - Disease - - - - - - - - 171866 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171866 - Spondyloepimetaphyseal dysplasia, aggrecan type - - Disease - - - - - - - - 178355 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178355 - Smith-McCort dysplasia - - Disease - - - - - - - - 228387 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228387 - Spondylo-megaepiphyseal-metaphyseal dysplasia - - Disease - - - - - - - - 263482 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263482 - Spondyloepimetaphyseal dysplasia, Maroteaux type - - Disease - - - - - - - - 353298 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353298 - Roifman syndrome - - Disease - - - - - - - - 370015 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370015 - Spondyloepimetaphyseal dysplasia, Isidor-Toutain type - - Disease - - - - - - - - 420794 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420794 - Cono-spondylar dysplasia - - Malformation syndrome - - - - - - - - 436174 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436174 - Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome - - Disease - - - - - - - - 642085 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642085 - EXOC6B-related spondyloepimetaphyseal dysplasia with joint laxity - - Disease - - - - - - - - 496751 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=496751 - EVEN-plus syndrome - - Malformation syndrome - - - - - - - - 611207 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=611207 - Spondyloepiphyseal dysplasia-sensorineural hearing loss-intellectual disability-Leber congenital amaurosis syndrome - - Clinical syndrome - - - - - - - - 1458 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1458 - CODAS syndrome - - Malformation syndrome - - - - - - - - 457395 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457395 - Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome - - Malformation syndrome - - - - - - - - 459070 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=459070 - X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome - - Malformation syndrome - - - - - - - - 459051 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=459051 - Spondyloepiphyseal dysplasia, Stanescu type - - Disease - - - - - - - - - - 254 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254 - Spondylometaphyseal dysplasia - - Clinical group - - - - - - 168555 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168555 - Spondylometaphyseal dysplasia, A4 type - - Disease - - - - - - - - 448267 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=448267 - Regressive spondylometaphyseal dysplasia - - Malformation syndrome - - - - - - - - 1855 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1855 - Spondyloenchondrodysplasia - - Malformation syndrome - - - - - - - - 85167 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85167 - Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome - - Disease - - - - - - - - 93314 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93314 - Spondylometaphyseal dysplasia, Kozlowski type - - Disease - - - - - - - - 93315 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93315 - Spondylometaphyseal dysplasia, 'corner fracture' type - - Disease - - - - - - - - 93316 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93316 - Spondylometaphyseal dysplasia, Schmidt type - - Disease - - - - - - - - 166272 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166272 - Odontochondrodysplasia - - Malformation syndrome - - - - - - - - 168544 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168544 - Spondylometaphyseal dysplasia, Golden type - - Disease - - - - - - - - 168549 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168549 - Axial spondylometaphyseal dysplasia - - Disease - - - - - - - - 168552 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168552 - Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome - - Disease - - - - - - - - 589435 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589435 - Spondylometaphyseal dysplasia-corneal dystrophy syndrome - - Malformation syndrome - - - - - - - - - - 93426 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93426 - Ciliopathies with major skeletal involvement - - Category - - - - - - 1505 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1505 - Short rib-polydactyly syndrome - - Clinical group - - - - - - 498497 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498497 - Short rib-polydactyly syndrome type 5 - - Malformation syndrome - - - - - - - - 474 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=474 - Jeune syndrome - - Malformation syndrome - - - - - - - - 289 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289 - Ellis Van Creveld syndrome - - Malformation syndrome - - - - - - - - 1515 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1515 - Cranioectodermal dysplasia - - Malformation syndrome - - - - - - - - 93268 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93268 - Short rib-polydactyly syndrome, Beemer-Langer type - - Malformation syndrome - - - - - - - - 93269 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93269 - Short rib-polydactyly syndrome, Majewski type - - Malformation syndrome - - - - - - - - 93270 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93270 - Short rib-polydactyly syndrome, Saldino-Noonan type - - Malformation syndrome - - - - - - - - 93271 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93271 - Short rib-polydactyly syndrome, Verma-Naumoff type - - Malformation syndrome - - - - - - - - 397715 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397715 - Joubert syndrome with Jeune asphyxiating thoracic dystrophy - - Malformation syndrome - - - - - - - - - - 1803 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1803 - Thoracomelic dysplasia - - Disease - - - - - - - - 2753 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2753 - Orofaciodigital syndrome type 4 - - Malformation syndrome - - - - - - - - 3317 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3317 - Thoracolaryngopelvic dysplasia - - Malformation syndrome - - - - - - - - 140969 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140969 - Saldino-Mainzer syndrome - - Disease - - - - - - - - 464366 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464366 - NEK9-related lethal skeletal dysplasia - - Malformation syndrome - - - - - - - - 1861 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1861 - Thoracic dysplasia-hydrocephalus syndrome - - Malformation syndrome - - - - - - - - - - 93429 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93429 - Multiple epiphyseal dysplasia and pseudoachondroplasia - - Category - - - - - - 251 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251 - Multiple epiphyseal dysplasia - - Clinical group - - - - - - 93307 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93307 - Multiple epiphyseal dysplasia type 4 - - Disease - - - - - - - - 93308 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93308 - Multiple epiphyseal dysplasia type 1 - - Disease - - - - - - - - 93311 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93311 - Multiple epiphyseal dysplasia type 5 - - Disease - - - - - - - - 166002 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166002 - Multiple epiphyseal dysplasia due to collagen 9 anomaly - - Disease - - - - - - - - 166016 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166016 - Multiple epiphyseal dysplasia, Lowry type - - Disease - - - - - - - - 166024 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166024 - Multiple epiphyseal dysplasia-macrocephaly-facial dysmorphism syndrome - - Disease - - - - - - - - 166029 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166029 - Multiple epiphyseal dysplasia-severe proximal femoral dysplasia syndrome - - Disease - - - - - - - - 166032 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166032 - Multiple epiphyseal dysplasia-miniepiphyses syndrome - - Disease - - - - - - - - 647676 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=647676 - Multiple epiphyseal dysplasia type 7 - - Disease - - - - - - - - - - 1824 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1824 - Lowry-Wood syndrome - - Disease - - - - - - - - 750 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=750 - Pseudoachondroplasia - - Disease - - - - - - - - 250984 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=250984 - Autosomal recessive Stickler syndrome - - Clinical subtype - - - - - - - - - - 93430 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93430 - Multiple metaphyseal dysplasia - - Clinical group - - - - - - 1040 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1040 - Metaphyseal anadysplasia - - Disease - - - - - - - - 174 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=174 - Metaphyseal chondrodysplasia, Schmid type - - Disease - - - - - - - - 1837 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1837 - Metaphyseal chondrodysplasia, Rosenberg type - - Disease - - - - - - - - 2501 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2501 - Metaphyseal chondrodysplasia, Spahr type - - Disease - - - - - - - - 2502 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2502 - Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome - - Malformation syndrome - - - - - - - - 2504 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2504 - Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome - - Malformation syndrome - - - - - - - - 175 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=175 - Cartilage-hair hypoplasia - - Disease - - - - - - - - 811 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=811 - Shwachman-Diamond syndrome - - Disease - - - - - - - - 33067 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33067 - Metaphyseal chondrodysplasia, Jansen type - - Disease - - - - - - - - 166038 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166038 - Metaphyseal chondrodysplasia, Kaitila type - - Disease - - - - - - - - 79106 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79106 - Eiken syndrome - - Malformation syndrome - - - - - - - - - - 93434 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93434 - Spondylodysplastic dysplasia - - Clinical group - - - - - - 622934 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=622934 - SBDS-related severe neonatal spondylometaphyseal dysplasia - - Malformation syndrome - - - - - - - - 2746 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2746 - Opsismodysplasia - - Disease - - - - - - - - 932 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=932 - Achondrogenesis - - Disease - - - - - - 93296 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93296 - Achondrogenesis type 2 - - Clinical subtype - - - - - - - - 93297 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93297 - Hypochondrogenesis - - Clinical subtype - - - - - - - - 93298 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93298 - Achondrogenesis type 1B - - Clinical subtype - - - - - - - - 93299 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93299 - Achondrogenesis type 1A - - Clinical subtype - - - - - - - - - - 1293 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1293 - Brachyolmia - - Clinical group - - - - - - 448242 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=448242 - Autosomal recessive brachyolmia - - Malformation syndrome - - - - - - - - 2899 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2899 - Brachyolmia-amelogenesis imperfecta syndrome - - Malformation syndrome - - - - - - - - 93302 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93302 - Brachyolmia, Maroteaux type - - Malformation syndrome - - - - - - - - 93304 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93304 - Autosomal dominant brachyolmia - - Malformation syndrome - - - - - - - - - - 1436 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1436 - X-linked skeletal dysplasia-intellectual disability syndrome - - Malformation syndrome - - - - - - - - 3144 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3144 - Schneckenbecken dysplasia - - Malformation syndrome - - - - - - - - 3180 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3180 - Spondylocamptodactyly syndrome - - Malformation syndrome - - - - - - - - 3275 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3275 - Spondylocarpotarsal synostosis - - Malformation syndrome - - - - - - - - 66637 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66637 - Diaphanospondylodysostosis - - Malformation syndrome - - - - - - - - 85166 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85166 - Platyspondylic dysplasia, Torrance type - - Malformation syndrome - - - - - - - - 93317 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93317 - Spondylometaphyseal dysplasia, Sedaghatian type - - Malformation syndrome - - - - - - - - 401979 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401979 - Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type - - Malformation syndrome - - - - - - - - 508533 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508533 - Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome - - Disease - - - - - - - - - - 93436 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93436 - Acromelic dysplasia - - Clinical group - - - - - - 623695 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=623695 - MIR140-related spondyloepiphyseal dysplasia - - Malformation syndrome - - - - - - - - 464288 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464288 - Short stature-brachydactyly-obesity-global developmental delay syndrome - - Malformation syndrome - - - - - - - - 457059 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457059 - Pseudohypoparathyroidism with Albright hereditary osteodystrophy - - Clinical group - - - - - - 79443 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79443 - Pseudohypoparathyroidism type 1A - - Disease - - - - - - - - 79444 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79444 - Pseudohypoparathyroidism type 1C - - Disease - - - - - - - - 79445 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79445 - Pseudopseudohypoparathyroidism - - Disease - - - - - - - - - - 950 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=950 - Acrodysostosis - - Malformation syndrome - - - - - - - - 969 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=969 - Acromicric dysplasia - - Malformation syndrome - - - - - - - - 2623 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2623 - Geleophysic dysplasia - - Malformation syndrome - - - - - - - - 3041 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3041 - Intellectual disability-balding-patella luxation-acromicria syndrome - - Malformation syndrome - - - - - - - - 63442 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=63442 - Angel-shaped phalango-epiphyseal dysplasia - - Malformation syndrome - - - - - - - - 63446 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=63446 - Acrocapitofemoral dysplasia - - Malformation syndrome - - - - - - - - 85168 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85168 - Craniofacial conodysplasia - - Malformation syndrome - - - - - - - - 88630 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88630 - Terminal osseous dysplasia-pigmentary defects syndrome - - Malformation syndrome - - - - - - - - 324764 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324764 - Trichorhinophalangeal syndrome - - Clinical group - - - - - - 502 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=502 - Trichorhinophalangeal syndrome type 2 - - Malformation syndrome - - - - - - - - 77258 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77258 - Trichorhinophalangeal syndrome type 1 - - Malformation syndrome - - - - - - - - - - 3449 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3449 - Weill-Marchesani syndrome - - Malformation syndrome - - - - - - - - 2588 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2588 - Myhre syndrome - - Malformation syndrome - - - - - - - - - - 93437 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93437 - Acromesomelic dysplasia - - Clinical group - - - - - - 968 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=968 - Acromesomelic dysplasia, Hunter-Thompson type - - Malformation syndrome - - - - - - - - 40 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=40 - Acromesomelic dysplasia, Maroteaux type - - Malformation syndrome - - - - - - - - 2098 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2098 - Acromesomelic dysplasia, Grebe type - - Malformation syndrome - - - - - - - - 2496 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2496 - Mesomelia-synostoses syndrome - - Malformation syndrome - - - - - - - - 2639 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2639 - Fibular aplasia-complex brachydactyly syndrome - - Malformation syndrome - - - - - - - - 93382 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93382 - Brachydactyly type A6 - - Malformation syndrome - - - - - - - - - - 93438 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93438 - Mesomelic and rhizo-mesomelic dysplasia - - Clinical group - - - - - - 240 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=240 - Léri-Weill dyschondrosteosis - - Malformation syndrome - - - - - - - - 1453 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1453 - Cleidorhizomelic syndrome - - Malformation syndrome - - - - - - - - 1836 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1836 - Mesomelic dysplasia, Kantaputra type - - Malformation syndrome - - - - - - - - 2021 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2021 - Fibrochondrogenesis - - Disease - - - - - - - - 2497 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2497 - Upper limb mesomelic dysplasia, type Fryns - - Malformation syndrome - - - - - - - - 2631 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2631 - Mesomelic dwarfism-cleft palate-camptodactyly syndrome - - Malformation syndrome - - - - - - - - 2632 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2632 - Langer mesomelic dysplasia - - Malformation syndrome - - - - - - - - 2633 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2633 - Mesomelic dysplasia, Nievergelt type - - Malformation syndrome - - - - - - - - 2634 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2634 - Mesomelic dwarfism, Reinhardt-Pfeiffer type - - Malformation syndrome - - - - - - - - 2733 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2733 - Omodysplasia - - Malformation syndrome - - - - - - 93328 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93328 - Autosomal dominant omodysplasia - - Clinical subtype - - - - - - - - 93329 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93329 - Autosomal recessive omodysplasia - - Clinical subtype - - - - - - - - - - 3098 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3098 - Rhizomelic syndrome, Urbach type - - Malformation syndrome - - - - - - - - 2831 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2831 - Rhizomelic dysplasia, Patterson-Lowry type - - Malformation syndrome - - - - - - - - 56304 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=56304 - Atelosteogenesis type II - - Malformation syndrome - - - - - - - - 85170 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85170 - Mesomelic dysplasia, Savarirayan type - - Malformation syndrome - - - - - - - - 97360 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97360 - Robinow syndrome - - Malformation syndrome - - - - - - 1507 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1507 - Autosomal recessive Robinow syndrome - - Clinical subtype - - - - - - - - 3107 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3107 - Autosomal dominant Robinow syndrome - - Clinical subtype - - - - - - - - - - 314795 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314795 - SHOX-related short stature - - Disease - - - - - - - - 397623 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397623 - Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome - - Malformation syndrome - - - - - - - - 424099 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424099 - Colobomatous microphthalmia-rhizomelic dysplasia syndrome - - Malformation syndrome - - - - - - - - 440354 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=440354 - Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome - - Malformation syndrome - - - - - - - - 163966 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163966 - X-linked dominant chondrodysplasia, Chassaing-Lacombe type - - Disease - - - - - - - - 611223 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=611223 - EN1-related dorsoventral syndrome - - Malformation syndrome - - - - - - - - 580940 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=580940 - QRICH1-related intellectual disability-chondrodysplasia syndrome - - Malformation syndrome - - - - - - - - 632603 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=632603 - Mesomelic dysplasia-digital anomalies-intellectual disability syndrome - - Malformation syndrome - - - - - - - - - - 93439 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93439 - Campomelic dysplasia and related disorders - - Clinical group - - - - - - 656283 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=656283 - Autosomal recessive combined immunodeficiency due to complete IL6ST deficiency - - Disease - - - - - - - - 140 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140 - Campomelic dysplasia - - Malformation syndrome - - - - - - - - 1318 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1318 - Campomelia, Cumming type - - Malformation syndrome - - - - - - - - 1801 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1801 - Kyphomelic dysplasia - - Malformation syndrome - - - - - - - - 2768 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2768 - Blount disease - - Malformation syndrome - - - - - - - - 3344 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3344 - Weismann-Netter syndrome - - Malformation syndrome - - - - - - - - 3206 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3206 - Stüve-Wiedemann syndrome - - Malformation syndrome - - - - - - - - 313855 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313855 - FGFR2-related bent bone dysplasia - - Disease - - - - - - - - 324307 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324307 - Severe lateral tibial bowing-short stature-mild winged scapula-mild facial dysmorphism syndrome - - Malformation syndrome - - - - - - - - - - 93440 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93440 - Slender bone dysplasia - - Clinical group - - - - - - 2333 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2333 - Kenny-Caffey syndrome - - Malformation syndrome - - - - - - 93324 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93324 - Autosomal recessive Kenny-Caffey syndrome - - Etiological subtype - - - - - - - - 93325 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93325 - Autosomal dominant Kenny-Caffey syndrome - - Etiological subtype - - - - - - - - - - 2616 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2616 - 3M syndrome - - Malformation syndrome - - - - - - - - 2763 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2763 - Osteocraniostenosis - - Malformation syndrome - - - - - - - - 85173 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85173 - IMAGe syndrome - - Malformation syndrome - - - - - - - - 314394 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314394 - Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome - - Disease - - - - - - - - 2554 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2554 - Ear-patella-short stature syndrome - - Malformation syndrome - - - - - - - - 1506 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1506 - Thin ribs-tubular bones-dysmorphism syndrome - - Malformation syndrome - - - - - - - - 2108 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2108 - Hallermann-Streiff syndrome - - Malformation syndrome - - - - - - - - 808 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=808 - Seckel syndrome - - Malformation syndrome - - - - - - - - 2643 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2643 - Microcephalic primordial dwarfism, Toriello type - - Malformation syndrome - - - - - - - - 2637 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2637 - Microcephalic osteodysplastic primordial dwarfism type II - - Malformation syndrome - - - - - - - - 2636 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2636 - Microcephalic osteodysplastic primordial dwarfism types I and III - - Malformation syndrome - - - - - - - - 85172 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85172 - Microcephalic osteodysplastic dysplasia, Saul-Wilson type - - Disease - - - - - - - - 2109 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2109 - Hallermann-Streiff-like syndrome - - Malformation syndrome - - - - - - - - 50811 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50811 - Lipodystrophy-intellectual disability-deafness syndrome - - Disease - - - - - - - - 572761 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572761 - DONSON-related microcephaly-short stature-limb abnormalities spectrum - - Malformation syndrome - - - - - - 572768 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572768 - Microcephaly-micromelia syndrome - - Clinical subtype - - - - - - - - 572773 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572773 - Microcephaly-short stature-limb abnormalities syndrome - - Clinical subtype - - - - - - - - - - - - 93441 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93441 - Primary bone dysplasia with multiple joint dislocations - - Clinical group - - - - - - 2370 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2370 - Larsen-like osseous dysplasia-short stature syndrome - - Malformation syndrome - - - - - - - - 1190 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1190 - Atelosteogenesis type I - - Malformation syndrome - - - - - - - - 114 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=114 - Auriculoosteodysplasia - - Malformation syndrome - - - - - - - - 1263 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1263 - Boomerang dysplasia - - Disease - - - - - - - - 1425 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1425 - Desbuquois syndrome - - Malformation syndrome - - - - - - - - 1508 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1508 - Coxoauricular syndrome - - Malformation syndrome - - - - - - - - 2371 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2371 - Lethal Larsen-like syndrome - - Malformation syndrome - - - - - - - - 503 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=503 - Larsen syndrome - - Malformation syndrome - - - - - - - - 56305 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=56305 - Atelosteogenesis type III - - Malformation syndrome - - - - - - - - 85174 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85174 - Pseudodiastrophic dysplasia - - Malformation syndrome - - - - - - - - 263463 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263463 - CHST3-related skeletal dysplasia - - Disease - - - - - - - - 280586 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280586 - Chondrodysplasia with joint dislocations, gPAPP type - - Malformation syndrome - - - - - - - - 284139 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284139 - Larsen-like syndrome, B3GAT3 type - - Malformation syndrome - - - - - - - - 438117 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=438117 - Steel syndrome - - Disease - - - - - - - - 93360 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93360 - Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type - - Disease - - - - - - - - 527450 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=527450 - Severe myopia-generalized joint laxity-short stature syndrome - - Malformation syndrome - - - - - - - - 589442 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589442 - Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome - - Malformation syndrome - - - - - - - - 642099 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642099 - Spondyloepimetaphyseal dysplasia with joint laxity, Beighton type - - Disease - - - - - - - - 642085 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642085 - EXOC6B-related spondyloepimetaphyseal dysplasia with joint laxity - - Disease - - - - - - - - - - 93442 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93442 - Chondrodysplasia punctata - - Clinical group - - - - - - 1426 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1426 - Greenberg dysplasia - - Disease - - - - - - - - 139 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139 - CHILD syndrome - - Disease - - - - - - - - 177 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=177 - Rhizomelic chondrodysplasia punctata - - Disease - - - - - - 309803 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309803 - Rhizomelic chondrodysplasia punctata type 3 - - Etiological subtype - - - - - - - - 309789 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309789 - Rhizomelic chondrodysplasia punctata type 1 - - Etiological subtype - - - - - - - - 309796 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309796 - Rhizomelic chondrodysplasia punctata type 2 - - Etiological subtype - - - - - - - - 468717 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=468717 - Rhizomelic chondrodysplasia punctata type 5 - - Etiological subtype - - - - - - - - - - 176 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=176 - Non-rhizomelic chondrodysplasia punctata - - Clinical group - - - - - - 35173 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35173 - X-linked dominant chondrodysplasia punctata - - Disease - - - - - - - - 79345 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79345 - Brachytelephalangic chondrodysplasia punctata - - Malformation syndrome - - - - - - - - 79346 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79346 - Chondrodysplasia punctata, tibial-metacarpal type - - Malformation syndrome - - - - - - - - 79347 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79347 - Chondrodysplasia punctata, Toriello type - - Malformation syndrome - - - - - - - - - - 85175 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85175 - Astley-Kendall dysplasia - - Malformation syndrome - - - - - - - - 85202 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85202 - Keutel syndrome - - Malformation syndrome - - - - - - - - - - 93444 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93444 - Primary bone dysplasia with increased bone density - - Category - - - - - - 2801 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2801 - Juvenile Paget disease - - Malformation syndrome - - - - - - - - 1328 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1328 - Camurati-Engelmann disease - - Malformation syndrome - - - - - - - - 1513 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1513 - Craniodiaphyseal dysplasia - - Malformation syndrome - - - - - - - - 1522 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1522 - Craniometaphyseal dysplasia - - Malformation syndrome - - - - - - - - 1798 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1798 - Craniofacial dysostosis-diaphyseal hyperplasia syndrome - - Malformation syndrome - - - - - - - - 1802 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1802 - Ghosal hematodiaphyseal dysplasia - - Malformation syndrome - - - - - - - - 2658 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2658 - Lenz-Majewski hyperostotic dwarfism - - Malformation syndrome - - - - - - - - 2710 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2710 - Oculodentodigital dysplasia - - Malformation syndrome - - - - - - - - 2779 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2779 - Osteopathia striata-pigmentary dermopathy-white forelock syndrome - - Malformation syndrome - - - - - - - - 2790 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2790 - Endosteal hyperostosis, Worth type - - Malformation syndrome - - - - - - - - 3005 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3005 - Pyle disease - - Disease - - - - - - - - 3152 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3152 - Sclerosteosis - - Malformation syndrome - - - - - - - - 3352 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3352 - Tricho-dento-osseous syndrome - - Malformation syndrome - - - - - - - - 3416 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3416 - Hyperostosis corticalis generalisata - - Malformation syndrome - - - - - - - - 646139 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=646139 - Dysplastic cortical hyperostosis - - Malformation syndrome - - - - - - 2204 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2204 - Dysplastic cortical hyperostosis, Kozlowski-Tsuruta type - - Clinical subtype - - - - - - - - 646136 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=646136 - Dysplastic cortical hyperostosis, Al-Gazali type - - Clinical subtype - - - - - - - - - - 2781 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2781 - Osteopetrosis and related disorders - - Clinical group - - - - - - 94063 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94063 - 12q14 microdeletion syndrome - - Malformation syndrome - - - - - - - - 166119 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166119 - Isolated osteopoikilosis - - Disease - - - - - - - - 178389 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178389 - Osteopetrosis-hypogammaglobulinemia syndrome - - Disease - - - - - - - - 210110 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210110 - Intermediate osteopetrosis - - Malformation syndrome - - - - - - - - 53 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53 - Albers-Schönberg osteopetrosis - - Malformation syndrome - - - - - - - - 2785 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2785 - Osteopetrosis with renal tubular acidosis - - Disease - - - - - - - - 763 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=763 - Pycnodysostosis - - Disease - - - - - - - - 1782 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1782 - Dysosteosclerosis - - Malformation syndrome - - - - - - - - 1879 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1879 - Melorheostosis with osteopoikilosis - - Malformation syndrome - - - - - - - - 2485 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2485 - Melorheostosis - - Malformation syndrome - - - - - - - - 2777 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2777 - Osteomesopyknosis - - Malformation syndrome - - - - - - - - 2780 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2780 - Osteopathia striata-cranial sclerosis syndrome - - Malformation syndrome - - - - - - - - 667 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=667 - Autosomal recessive malignant osteopetrosis - - Malformation syndrome - - - - - - - - 2783 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2783 - Autosomal dominant osteopetrosis type 1 - - Malformation syndrome - - - - - - - - 69088 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69088 - Hypohidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome - - Disease - - - - - - - - 85179 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85179 - Infantile osteopetrosis with neuroaxonal dysplasia - - Malformation syndrome - - - - - - - - 99844 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99844 - Leukocyte adhesion deficiency type III - - Clinical subtype - - - - - - - - 500548 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500548 - Osteosclerotic metaphyseal dysplasia - - Malformation syndrome - - - - - - - - 556985 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=556985 - Early-onset calcifying leukoencephalopathy-skeletal dysplasia - - Disease - - - - - - - - 603494 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=603494 - Coloboma-osteopetrosis-microphthalmia-macrocephaly-albinism-deafness syndrome - - Malformation syndrome - - - - - - - - - - 75325 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75325 - Osteosclerosis-ichthyosis-premature ovarian failure syndrome - - Disease - - - - - - - - 85182 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85182 - Diaphyseal medullary stenosis-bone malignancy syndrome - - Disease - - - - - - - - 85184 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85184 - Craniometadiaphyseal dysplasia, wormian bone type - - Malformation syndrome - - - - - - - - 85186 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85186 - Endosteal sclerosis-cerebellar hypoplasia syndrome - - Malformation syndrome - - - - - - - - 85188 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85188 - Metaphyseal dysplasia, Braun-Tinschert type - - Malformation syndrome - - - - - - - - 93443 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93443 - Neonatal osteosclerotic dysplasia - - Clinical group - - - - - - 1310 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1310 - Caffey disease - - Malformation syndrome - - - - - - - - 1832 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1832 - Osteosclerotic bone dysplasia - - Malformation syndrome - - - - - - - - 35107 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35107 - Desmosterolosis - - Disease - - - - - - - - 50945 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50945 - Blomstrand lethal chondrodysplasia - - Malformation syndrome - - - - - - - - - - 248095 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=248095 - Primary hypertrophic osteoarthropathy - - Clinical group - - - - - - 1525 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1525 - Cranio-osteoarthropathy - - Malformation syndrome - - - - - - - - 2796 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2796 - Pachydermoperiostosis - - Malformation syndrome - - - - - - - - - - 314029 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314029 - High bone mass osteogenesis imperfecta - - Disease - - - - - - - - 324364 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324364 - Mixed sclerosing bone dystrophy with extra-skeletal manifestations - - Disease - - - - - - - - 391327 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391327 - X-linked calvarial hyperostosis - - Disease - - - - - - - - 443098 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443098 - Hyperostosis cranialis interna - - Disease - - - - - - - - - - 93446 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93446 - Primary bone dysplasia with decreased bone density - - Category - - - - - - 2771 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2771 - Bruck syndrome - - Malformation syndrome - - - - - - - - 2772 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2772 - Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome - - Malformation syndrome - - - - - - - - 2773 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2773 - Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome - - Malformation syndrome - - - - - - - - 666 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=666 - Osteogenesis imperfecta - - Disease - - - - - - 216796 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216796 - Osteogenesis imperfecta type 1 - - Clinical subtype - - - - - - - - 216804 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216804 - Osteogenesis imperfecta type 2 - - Clinical subtype - - - - - - - - 216812 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216812 - Osteogenesis imperfecta type 3 - - Clinical subtype - - - - - - - - 216820 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216820 - Osteogenesis imperfecta type 4 - - Clinical subtype - - - - - - - - 216828 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216828 - Osteogenesis imperfecta type 5 - - Clinical subtype - - - - - - - - - - 2050 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2050 - Cole-Carpenter syndrome - - Malformation syndrome - - - - - - - - 2078 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2078 - Geroderma osteodysplastica - - Malformation syndrome - - - - - - - - 2097 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2097 - Grant syndrome - - Malformation syndrome - - - - - - - - 2324 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2324 - Osteopenia-intellectual disability-sparse hair syndrome - - Malformation syndrome - - - - - - - - 2786 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2786 - Osteoporosis-oculocutaneous hypopigmentation syndrome - - Malformation syndrome - - - - - - - - 2788 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2788 - Osteoporosis-pseudoglioma syndrome - - Disease - - - - - - - - 457378 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457378 - Complex lethal osteochondrodysplasia - - Malformation syndrome - - - - - - - - 53697 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53697 - Gnathodiaphyseal dysplasia - - Malformation syndrome - - - - - - - - 85191 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85191 - Singleton-Merten dysplasia - - Malformation syndrome - - - - - - - - 85192 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85192 - Calvarial doughnut lesions-bone fragility syndrome - - Malformation syndrome - - - - - - - - 85193 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85193 - Idiopathic juvenile osteoporosis - - Malformation syndrome - - - - - - - - 85194 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85194 - Spondylo-ocular syndrome - - Malformation syndrome - - - - - - - - 90350 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90350 - Autosomal recessive cutis laxa type 2 - - Clinical group - - - - - - 357058 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357058 - Autosomal recessive cutis laxa type 2A - - Disease - - - - - - 2834 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2834 - Wrinkly skin syndrome - - Clinical subtype - - - - - - - - 357074 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357074 - Autosomal recessive cutis laxa type 2, classic type - - Clinical subtype - - - - - - - - - - 357064 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357064 - Autosomal recessive cutis laxa type 2B - - Disease - - - - - - - - - - 166277 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166277 - Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia - - Malformation syndrome - - - - - - - - 230857 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=230857 - Ehlers-Danlos/osteogenesis imperfecta syndrome - - Disease - - - - - - - - 314667 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314667 - TMEM165-CDG - - Disease - - - - - - - - 319195 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319195 - Chondroectodermal dysplasia with night blindness - - Disease - - - - - - - - 391330 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391330 - X-linked osteoporosis with fractures - - Disease - - - - - - - - 498481 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498481 - LRP5-related primary osteoporosis - - Malformation syndrome - - - - - - - - 536467 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=536467 - B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome - - Clinical subtype - - - - - - - - 536532 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=536532 - Classical-like Ehlers-Danlos syndrome type 2 - - Disease - - - - - - - - - - 93447 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93447 - Primary bone dysplasia with defective bone mineralization - - Category - - - - - - 557003 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=557003 - Oculoskeletodental syndrome - - Disease - - - - - - - - 436 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436 - Hypophosphatasia - - Disease - - - - - - 247623 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247623 - Perinatal lethal hypophosphatasia - - Clinical subtype - - - - - - - - 247638 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247638 - Prenatal benign hypophosphatasia - - Clinical subtype - - - - - - - - 247651 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247651 - Infantile hypophosphatasia - - Clinical subtype - - - - - - - - 247667 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247667 - Childhood-onset hypophosphatasia - - Clinical subtype - - - - - - - - 247676 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247676 - Adult hypophosphatasia - - Clinical subtype - - - - - - - - 247685 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247685 - Odontohypophosphatasia - - Clinical subtype - - - - - - - - - - 417 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=417 - Neonatal severe primary hyperparathyroidism - - Disease - - - - - - - - 405 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=405 - Familial hypocalciuric hypercalcemia - - Disease - - - - - - 93372 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93372 - Familial hypocalciuric hypercalcemia type 1 - - Etiological subtype - - - - - - - - 101049 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101049 - Familial hypocalciuric hypercalcemia type 2 - - Etiological subtype - - - - - - - - 101050 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101050 - Familial hypocalciuric hypercalcemia type 3 - - Etiological subtype - - - - - - - - - - 50811 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50811 - Lipodystrophy-intellectual disability-deafness syndrome - - Disease - - - - - - - - 73230 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73230 - Ossification anomalies-psychomotor developmental delay syndrome - - Disease - - - - - - - - 79106 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79106 - Eiken syndrome - - Malformation syndrome - - - - - - - - 289098 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289098 - Disorders of vitamin D metabolism - - Category - - - - - - 437 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=437 - Hypophosphatemic rickets - - Clinical group - - - - - - 1652 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1652 - Dent disease - - Disease - - - - - - 93622 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93622 - Dent disease type 1 - - Clinical subtype - - - - - - - - 93623 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93623 - Dent disease type 2 - - Clinical subtype - - - - - - - - - - 213 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213 - Cystinosis - - Disease - - - - - - 411629 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411629 - Infantile nephropathic cystinosis - - Clinical subtype - - - - - - - - 411634 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411634 - Juvenile nephropathic cystinosis - - Clinical subtype - - - - - - - - 411641 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411641 - Ocular cystinosis - - Clinical subtype - - - - - - - - - - 244305 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=244305 - Dominant hypophosphatemia with nephrolithiasis or osteoporosis - - Disease - - - - - - - - 89936 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=89936 - X-linked hypophosphatemia - - Disease - - - - - - - - 89937 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=89937 - Autosomal dominant hypophosphatemic rickets - - Disease - - - - - - - - 157215 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157215 - Hereditary hypophosphatemic rickets with hypercalciuria - - Disease - - - - - - - - 289176 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289176 - Autosomal recessive hypophosphatemic rickets - - Disease - - - - - - - - - - 289103 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289103 - Hypocalcemic rickets - - Clinical group - - - - - - 93160 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93160 - Hypocalcemic vitamin D-resistant rickets - - Disease - - - - - - - - 289157 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289157 - Hypocalcemic vitamin D-dependent rickets - - Disease - - - - - - - - - - - - 1416 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1416 - Familial calcium pyrophosphate deposition - - Disease - - - - - - - - - - 93449 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93449 - Primary osteolysis - - Category - - - - - - 647667 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=647667 - Mandibuloacral dysplasia associated to MTX2 - - Malformation syndrome - - - - - - - - 498474 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498474 - Hyaline fibromatosis syndrome - - Disease - - - - - - 2176 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2176 - Infantile systemic hyalinosis - - Clinical subtype - - - - - - - - 2028 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2028 - Juvenile hyaline fibromatosis - - Clinical subtype - - - - - - - - - - 955 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=955 - Hajdu-Cheney syndrome - - Malformation syndrome - - - - - - - - 1952 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1952 - Epiphyseal stippling-osteoclastic hyperplasia syndrome - - Malformation syndrome - - - - - - - - 2457 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2457 - Mandibuloacral dysplasia - - Malformation syndrome - - - - - - 90153 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90153 - Mandibuloacral dysplasia with type A lipodystrophy - - Clinical subtype - - - - - - - - 90154 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90154 - Mandibuloacral dysplasia with type B lipodystrophy - - Clinical subtype - - - - - - - - - - 2774 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2774 - Multicentric carpo-tarsal osteolysis with or without nephropathy - - Malformation syndrome - - - - - - - - 2776 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2776 - Autosomal recessive distal osteolysis syndrome - - Malformation syndrome - - - - - - - - 740 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=740 - Hutchinson-Gilford progeria syndrome - - Disease - - - - - - - - 50809 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50809 - Talo-patello-scaphoid osteolysis - - Malformation syndrome - - - - - - - - 85195 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85195 - Familial expansile osteolysis - - Disease - - - - - - - - 280576 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280576 - Nestor-Guillermo progeria syndrome - - Malformation syndrome - - - - - - - - 352636 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352636 - Phalangeal microgeodic syndrome - - Disease - - - - - - - - 371428 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=371428 - Multicentric osteolysis-nodulosis-arthropathy spectrum - - Disease - - - - - - - - - - 93450 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93450 - Primary bone dysplasia with disorganized development of skeletal components - - Category - - - - - - 73 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73 - Gorham-Stout disease - - Malformation syndrome - - - - - - - - 2770 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2770 - Nasu-Hakola disease - - Malformation syndrome - - - - - - - - 636 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=636 - Neurofibromatosis type 1 - - Disease - - - - - - 97685 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97685 - 17q11 microdeletion syndrome - - Clinical subtype - - - - - - - - 363700 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363700 - Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion - - Etiological subtype - - - - - - - - - - 595216 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=595216 - Fibrous dysplasia/McCune-Albright syndrome - - Clinical group - - - - - - 562 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=562 - McCune-Albright syndrome - - Disease - - - - - - - - 249 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=249 - Fibrous dysplasia of bone - - Malformation syndrome - - - - - - 93277 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93277 - Monostotic fibrous dysplasia - - Clinical subtype - - - - - - - - 93276 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93276 - Polyostotic fibrous dysplasia - - Clinical subtype - - - - - - - - - - - - 184 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=184 - Cherubism - - Malformation syndrome - - - - - - - - 1822 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1822 - Dysplasia epiphysealis hemimelica - - Malformation syndrome - - - - - - - - 1962 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1962 - Exostoses-anetodermia-brachydactyly type E syndrome - - Malformation syndrome - - - - - - - - 296 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=296 - Ollier disease - - Disease - - - - - - - - 2499 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2499 - Metachondromatosis - - Malformation syndrome - - - - - - - - 2645 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2645 - Osteoglosphonic dysplasia - - Malformation syndrome - - - - - - - - 2767 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2767 - Carpotarsal osteochondromatosis - - Malformation syndrome - - - - - - - - 2867 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2867 - Short stature, Brussels type - - Malformation syndrome - - - - - - - - 3019 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3019 - Ramon syndrome - - Malformation syndrome - - - - - - - - 3408 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3408 - Upington disease - - Malformation syndrome - - - - - - - - 321 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=321 - Multiple osteochondromas - - Disease - - - - - - - - 53697 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53697 - Gnathodiaphyseal dysplasia - - Malformation syndrome - - - - - - - - 57782 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=57782 - Mazabraud syndrome - - Malformation syndrome - - - - - - - - 85197 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85197 - Genochondromatosis type 1 - - Disease - - - - - - - - 85198 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85198 - Dysspondyloenchondromatosis - - Malformation syndrome - - - - - - - - 93398 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93398 - Genochondromatosis type 2 - - Disease - - - - - - - - 99646 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99646 - Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria - - Disease - - - - - - - - 163634 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163634 - Maffucci syndrome - - Disease - - - - - - - - 488265 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488265 - Osteofibrous dysplasia - - Disease - - - - - - - - 337 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=337 - Fibrodysplasia ossificans progressiva - - Disease - - - - - - - - 2762 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2762 - Progressive osseous heteroplasia - - Malformation syndrome - - - - - - - - - - 93451 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93451 - Cleidocranial dysplasia and isolated cranial ossification defect - - Category - - - - - - 251290 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251290 - Parietal foramina with clavicular hypoplasia - - Malformation syndrome - - - - - - - - 1452 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1452 - Cleidocranial dysplasia - - Malformation syndrome - - - - - - - - 3034 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3034 - Delayed membranous cranial ossification - - Malformation syndrome - - - - - - - - 3472 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3472 - Yunis-Varon syndrome - - Malformation syndrome - - - - - - - - 60015 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=60015 - Enlarged parietal foramina - - Malformation syndrome - - - - - - - - 85199 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85199 - Craniosynostosis-anal anomalies-porokeratosis syndrome - - Malformation syndrome - - - - - - - - - - 93465 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93465 - Lethal chondrodysplasia - - Category - - - - - - 1842 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1842 - Bone dysplasia, lethal Holmgren type - - Malformation syndrome - - - - - - - - 2347 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2347 - Lethal Kniest-like dysplasia - - Malformation syndrome - - - - - - - - 3003 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3003 - Pyknoachondrogenesis - - Malformation syndrome - - - - - - - - 1423 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1423 - Lethal recessive chondrodysplasia - - Malformation syndrome - - - - - - - - - - 364531 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=364531 - Primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments - - Category - - - - - - 337 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=337 - Fibrodysplasia ossificans progressiva - - Disease - - - - - - - - 2762 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2762 - Progressive osseous heteroplasia - - Malformation syndrome - - - - - - - - - - - - 364803 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=364803 - Rare bone disease related to a common gene or pathway defect - - Category - - - - - - 674499 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=674499 - Proteoglycan-related bone disorder - - Category - - - - - - 800 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=800 - Schwartz-Jampel syndrome - - Disease - - - - - - - - 1865 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1865 - Dyssegmental dysplasia, Silverman-Handmaker type - - Disease - - - - - - - - 93283 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93283 - Spondyloepiphyseal dysplasia, Kimberley type - - Disease - - - - - - - - 171866 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171866 - Spondyloepimetaphyseal dysplasia, aggrecan type - - Disease - - - - - - - - 251262 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251262 - Familial osteochondritis dissecans - - Disease - - - - - - - - 435804 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435804 - Short stature-advanced bone age-early-onset osteoarthritis syndrome - - Disease - - - - - - - - - - 93420 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93420 - FGFR3-related chondrodysplasia - - Category - - - - - - 15 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=15 - Achondroplasia - - Disease - - - - - - - - 429 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=429 - Hypochondroplasia - - Disease - - - - - - - - 2655 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2655 - Thanatophoric dysplasia - - Disease - - - - - - 1860 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1860 - Thanatophoric dysplasia type 1 - - Clinical subtype - - - - - - - - 93274 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93274 - Thanatophoric dysplasia type 2 - - Clinical subtype - - - - - - - - - - 85164 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85164 - Camptodactyly-tall stature-scoliosis-hearing loss syndrome - - Disease - - - - - - - - 85165 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85165 - Severe achondroplasia-developmental delay-acanthosis nigricans syndrome - - Disease - - - - - - - - - - 93421 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93421 - Type 2 collagen-related bone disorder - - Category - - - - - - 459051 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=459051 - Spondyloepiphyseal dysplasia, Stanescu type - - Disease - - - - - - - - 2380 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2380 - Legg-Calvé-Perthes disease - - Disease - - - - - - - - 1427 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1427 - Autosomal recessive otospondylomegaepiphyseal dysplasia - - Disease - - - - - - - - 485 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=485 - Kniest dysplasia - - Disease - - - - - - - - 1856 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1856 - Spondyloperipheral dysplasia-short ulna syndrome - - Disease - - - - - - - - 85166 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85166 - Platyspondylic dysplasia, Torrance type - - Malformation syndrome - - - - - - - - 86820 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86820 - Familial avascular necrosis of femoral head - - Disease - - - - - - - - 90653 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90653 - Stickler syndrome type 1 - - Clinical subtype - - - - - - - - 93279 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93279 - Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis - - Disease - - - - - - - - 93296 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93296 - Achondrogenesis type 2 - - Clinical subtype - - - - - - - - 93297 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93297 - Hypochondrogenesis - - Clinical subtype - - - - - - - - 93315 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93315 - Spondylometaphyseal dysplasia, 'corner fracture' type - - Disease - - - - - - - - 93316 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93316 - Spondylometaphyseal dysplasia, Schmidt type - - Disease - - - - - - - - 93346 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93346 - Spondyloepimetaphyseal dysplasia congenita, Strudwick type - - Disease - - - - - - - - 94068 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94068 - Spondyloepiphyseal dysplasia congenita - - Disease - - - - - - - - 137678 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137678 - Spondyloepiphyseal dysplasia with metatarsal shortening - - Disease - - - - - - - - - - 93422 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93422 - Type 11 collagen-related bone disorder - - Category - - - - - - 560 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=560 - Marshall syndrome - - Malformation syndrome - - - - - - - - 1427 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1427 - Autosomal recessive otospondylomegaepiphyseal dysplasia - - Disease - - - - - - - - 2021 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2021 - Fibrochondrogenesis - - Disease - - - - - - - - 90654 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90654 - Stickler syndrome type 2 - - Clinical subtype - - - - - - - - 166100 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166100 - Autosomal dominant otospondylomegaepiphyseal dysplasia - - Malformation syndrome - - - - - - - - 440354 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=440354 - Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome - - Malformation syndrome - - - - - - - - - - 93423 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93423 - Sulfation-related bone disorder - - Category - - - - - - 628 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=628 - Diastrophic dysplasia - - Disease - - - - - - - - 56304 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=56304 - Atelosteogenesis type II - - Malformation syndrome - - - - - - - - 93282 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93282 - Spondyloepimetaphyseal dysplasia, PAPSS2 type - - Disease - - - - - - - - 93298 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93298 - Achondrogenesis type 1B - - Clinical subtype - - - - - - - - 93307 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93307 - Multiple epiphyseal dysplasia type 4 - - Disease - - - - - - - - - - 93425 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93425 - Filamin-related bone disorder - - Category - - - - - - 1190 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1190 - Atelosteogenesis type I - - Malformation syndrome - - - - - - - - 1263 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1263 - Boomerang dysplasia - - Disease - - - - - - - - 3275 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3275 - Spondylocarpotarsal synostosis - - Malformation syndrome - - - - - - - - 503 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=503 - Larsen syndrome - - Malformation syndrome - - - - - - - - 56305 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=56305 - Atelosteogenesis type III - - Malformation syndrome - - - - - - - - 88630 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88630 - Terminal osseous dysplasia-pigmentary defects syndrome - - Malformation syndrome - - - - - - - - 364541 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=364541 - Otopalatodigital syndrome spectrum disorder - - Clinical group - - - - - - 90652 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90652 - Otopalatodigital syndrome type 2 - - Malformation syndrome - - - - - - - - 1826 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1826 - Frontometaphyseal dysplasia - - Disease - - - - - - - - 2484 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2484 - Melnick-Needles syndrome - - Malformation syndrome - - - - - - - - 90650 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90650 - Otopalatodigital syndrome type 1 - - Malformation syndrome - - - - - - - - 137834 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137834 - Frank-Ter Haar syndrome - - Disease - - - - - - - - - - - - 364820 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=364820 - TRPV4-related bone disorder - - Category - - - - - - 2635 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2635 - Metatropic dysplasia - - Disease - - - - - - - - 85169 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85169 - Familial digital arthropathy-brachydactyly - - Malformation syndrome - - - - - - - - 93304 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93304 - Autosomal dominant brachyolmia - - Malformation syndrome - - - - - - - - 93314 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93314 - Spondylometaphyseal dysplasia, Kozlowski type - - Disease - - - - - - - - 263482 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263482 - Spondyloepimetaphyseal dysplasia, Maroteaux type - - Disease - - - - - - - - - - 371195 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=371195 - Congenital disorder of glycosylation-related bone disorder - - Category - - - - - - 2311 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2311 - Autosomal recessive spondylocostal dysostosis - - Malformation syndrome - - - - - - - - 3144 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3144 - Schneckenbecken dysplasia - - Malformation syndrome - - - - - - - - 321 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=321 - Multiple osteochondromas - - Disease - - - - - - - - 75496 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75496 - B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome - - Clinical subtype - - - - - - - - 247262 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247262 - Hyperphosphatasia-intellectual disability syndrome - - Disease - - - - - - - - 263463 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263463 - CHST3-related skeletal dysplasia - - Disease - - - - - - - - 263508 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263508 - COG1-CDG - - Disease - - - - - - - - 284139 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284139 - Larsen-like syndrome, B3GAT3 type - - Malformation syndrome - - - - - - - - 314667 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314667 - TMEM165-CDG - - Disease - - - - - - - - 357058 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357058 - Autosomal recessive cutis laxa type 2A - - Disease - - - - - - 2834 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2834 - Wrinkly skin syndrome - - Clinical subtype - - - - - - - - 357074 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357074 - Autosomal recessive cutis laxa type 2, classic type - - Clinical subtype - - - - - - - - - - 363417 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363417 - Temtamy preaxial brachydactyly syndrome - - Malformation syndrome - - - - - - - - 369837 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369837 - Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome - - Malformation syndrome - - - - - - - - 536467 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=536467 - B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome - - Clinical subtype - - - - - - - - - - 93426 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93426 - Ciliopathies with major skeletal involvement - - Category - - - - - - 1505 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1505 - Short rib-polydactyly syndrome - - Clinical group - - - - - - 498497 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498497 - Short rib-polydactyly syndrome type 5 - - Malformation syndrome - - - - - - - - 474 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=474 - Jeune syndrome - - Malformation syndrome - - - - - - - - 289 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289 - Ellis Van Creveld syndrome - - Malformation syndrome - - - - - - - - 1515 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1515 - Cranioectodermal dysplasia - - Malformation syndrome - - - - - - - - 93268 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93268 - Short rib-polydactyly syndrome, Beemer-Langer type - - Malformation syndrome - - - - - - - - 93269 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93269 - Short rib-polydactyly syndrome, Majewski type - - Malformation syndrome - - - - - - - - 93270 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93270 - Short rib-polydactyly syndrome, Saldino-Noonan type - - Malformation syndrome - - - - - - - - 93271 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93271 - Short rib-polydactyly syndrome, Verma-Naumoff type - - Malformation syndrome - - - - - - - - 397715 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397715 - Joubert syndrome with Jeune asphyxiating thoracic dystrophy - - Malformation syndrome - - - - - - - - - - 1803 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1803 - Thoracomelic dysplasia - - Disease - - - - - - - - 2753 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2753 - Orofaciodigital syndrome type 4 - - Malformation syndrome - - - - - - - - 3317 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3317 - Thoracolaryngopelvic dysplasia - - Malformation syndrome - - - - - - - - 140969 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140969 - Saldino-Mainzer syndrome - - Disease - - - - - - - - 464366 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464366 - NEK9-related lethal skeletal dysplasia - - Malformation syndrome - - - - - - - - 1861 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1861 - Thoracic dysplasia-hydrocephalus syndrome - - Malformation syndrome - - - - - - - - - - - - 399380 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399380 - Osteonecrosis of genetic origin - - Category - - - - - - 251262 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251262 - Familial osteochondritis dissecans - - Disease - - - - - - - - 399388 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399388 - Avascular necrosis of genetic origin - - Category - - - - - - 86820 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86820 - Familial avascular necrosis of femoral head - - Disease - - - - - - - - 399185 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399185 - Rare hereditary disease with avascular necrosis - - Category - - - - - - 232 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=232 - Sickle cell anemia - - Disease - - - - - - - - 77259 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77259 - Gaucher disease type 1 - - Clinical subtype - - - - - - - - 77261 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77261 - Gaucher disease type 3 - - Clinical subtype - - - - - - - - 217454 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217454 - Rare hereditary thrombophilia - - Clinical group - - - - - - 743 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=743 - Severe hereditary thrombophilia due to congenital protein S deficiency - - Disease - - - - - - - - 745 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=745 - Severe hereditary thrombophilia due to congenital protein C deficiency - - Disease - - - - - - - - 82 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=82 - Hereditary thrombophilia due to congenital antithrombin deficiency - - Disease - - - - - - - - 217467 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217467 - Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency - - Disease - - - - - - - - - - - - - - 399391 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=399391 - Osteochondrosis of genetic origin - - Category - - - - - - 3314 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3314 - Thiemann disease, familial form - - Disease - - - - - - - - - - - - 404568 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404568 - Dysostosis of genetic origin - - Category - - - - - - 1531 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1531 - Craniosynostosis - - Category - - - - - - 139390 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139390 - Non-syndromic craniosynostosis - - Clinical group - - - - - - 620096 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=620096 - Non-syndromic unisutural craniosynostosis - - Clinical group - - - - - - 620102 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=620102 - Non-syndromic unicoronal craniosynostosis - - Morphological anomaly - - - - - - - - 620113 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=620113 - Non-syndromic unilambdoid craniosynostosis - - Morphological anomaly - - - - - - - - 620139 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=620139 - Non-syndromic unifrontosphenoidal craniosynostosis - - Morphological anomaly - - - - - - - - 620146 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=620146 - Non-syndromic unisquamosal craniosynostosis - - Morphological anomaly - - - - - - - - 3366 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3366 - Non-syndromic metopic craniosynostosis - - Morphological anomaly - - - - - - - - 35093 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35093 - Non-syndromic sagittal craniosynostosis - - Morphological anomaly - - - - - - - - - - 620152 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=620152 - Non-syndromic multisutural craniosynostosis - - Clinical group - - - - - - 620158 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=620158 - Non-syndromic non-specific multisutural craniosynostosis - - Morphological anomaly - - - - - - - - 620178 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=620178 - Non-syndromic bilambdoid craniosynostosis - - Morphological anomaly - - - - - - - - 620186 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=620186 - Non-syndromic unicoronal and sagittal craniosynostosis - - Morphological anomaly - - - - - - - - 620192 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=620192 - Non-syndromic metopic and sagittal craniosynostosis - - Morphological anomaly - - - - - - - - 620198 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=620198 - Non-syndromic bicoronal and metopic craniosynostosis - - Morphological anomaly - - - - - - - - 620205 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=620205 - Non-syndromic bicoronal and sagittal craniosynostosis - - Morphological anomaly - - - - - - - - 620212 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=620212 - Non-syndromic pansynostosis - - Morphological anomaly - - - - - - - - 35099 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35099 - Non-syndromic bicoronal craniosynostosis - - Morphological anomaly - - - - - - - - 1516 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1516 - Non-syndromic bilambdoid and sagittal craniosynostosis - - Malformation syndrome - - - - - - - - - - - - 139393 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139393 - Syndromic craniosynostosis - - Category - - - - - - 207 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=207 - Crouzon syndrome - - Malformation syndrome - - - - - - - - 1308 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1308 - C syndrome - - Malformation syndrome - - - - - - - - 87 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=87 - Apert syndrome - - Malformation syndrome - - - - - - - - 83 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83 - Antley-Bixler syndrome - - Malformation syndrome - - - - - - 63269 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=63269 - Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis - - Clinical subtype - - - - - - - - 596008 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=596008 - Antley-Bixler syndrome without genital anomaly or disorder of steroidogenesis - - Clinical subtype - - - - - - - - - - 1225 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1225 - Baller-Gerold syndrome - - Malformation syndrome - - - - - - - - 1515 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1515 - Cranioectodermal dysplasia - - Malformation syndrome - - - - - - - - 1527 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1527 - Craniosynostosis, Philadelphia type - - Malformation syndrome - - - - - - - - 1528 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1528 - Craniotelencephalic dysplasia - - Malformation syndrome - - - - - - - - 1540 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1540 - Jackson-Weiss syndrome - - Malformation syndrome - - - - - - - - 1553 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1553 - Curry-Jones syndrome - - Malformation syndrome - - - - - - - - 1555 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1555 - Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome - - Malformation syndrome - - - - - - - - 2145 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2145 - Craniosynostosis, Herrmann-Opitz type - - Malformation syndrome - - - - - - - - 2163 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2163 - Holoprosencephaly-craniosynostosis syndrome - - Malformation syndrome - - - - - - - - 2409 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2409 - Lowry-MacLean syndrome - - Malformation syndrome - - - - - - - - 2462 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2462 - Shprintzen-Goldberg syndrome - - Malformation syndrome - - - - - - - - 2872 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2872 - Cardiocranial syndrome, Pfeiffer type - - Malformation syndrome - - - - - - - - 3134 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3134 - SCARF syndrome - - Malformation syndrome - - - - - - - - 313855 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313855 - FGFR2-related bent bone dysplasia - - Disease - - - - - - - - 3365 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3365 - Trigonocephaly-broad thumbs syndrome - - Malformation syndrome - - - - - - - - 3369 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3369 - Trigonocephaly-short stature-developmental delay syndrome - - Malformation syndrome - - - - - - - - 2898 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2898 - X-linked intellectual disability-plagiocephaly syndrome - - Malformation syndrome - - - - - - - - 1541 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1541 - Craniosynostosis, Boston type - - Malformation syndrome - - - - - - - - 1524 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1524 - Craniomicromelic syndrome - - Malformation syndrome - - - - - - - - 52054 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52054 - Craniosynostosis-intracranial calcifications syndrome - - Malformation syndrome - - - - - - - - 53271 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53271 - Muenke syndrome - - Malformation syndrome - - - - - - - - 247651 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247651 - Infantile hypophosphatasia - - Clinical subtype - - - - - - - - 85199 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85199 - Craniosynostosis-anal anomalies-porokeratosis syndrome - - Malformation syndrome - - - - - - - - 93262 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93262 - Crouzon syndrome-acanthosis nigricans syndrome - - Malformation syndrome - - - - - - - - 93267 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93267 - Cloverleaf skull-multiple congenital anomalies syndrome - - Malformation syndrome - - - - - - - - 247638 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247638 - Prenatal benign hypophosphatasia - - Clinical subtype - - - - - - - - 100978 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100978 - Cloverleaf skull-asphyxiating thoracic dysplasia syndrome - - Malformation syndrome - - - - - - - - 169163 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169163 - Familial scaphocephaly syndrome - - Category - - - - - - 1538 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1538 - Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome - - Malformation syndrome - - - - - - - - 168624 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168624 - Familial scaphocephaly syndrome, McGillivray type - - Malformation syndrome - - - - - - - - - - 171839 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171839 - Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome - - Malformation syndrome - - - - - - - - 178377 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178377 - Osteosclerosis-developmental delay-craniosynostosis syndrome - - Malformation syndrome - - - - - - - - 221054 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221054 - Acrocephalopolydactyly - - Malformation syndrome - - - - - - - - 284149 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284149 - Craniosynostosis-dental anomalies - - Malformation syndrome - - - - - - - - 293925 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293925 - Lethal occipital encephalocele-skeletal dysplasia syndrome - - Malformation syndrome - - - - - - - - 247667 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247667 - Childhood-onset hypophosphatasia - - Clinical subtype - - - - - - - - 648 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=648 - Noonan syndrome - - Malformation syndrome - - - - - - - - 79213 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79213 - Mucopolysaccharidosis - - Category - - - - - - 67041 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=67041 - Hyaluronidase deficiency - - Disease - - - - - - - - 583 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=583 - Mucopolysaccharidosis type 6 - - Disease - - - - - - 276212 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276212 - Mucopolysaccharidosis type 6, rapidly progressing - - Clinical subtype - - - - - - - - 276223 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276223 - Mucopolysaccharidosis type 6, slowly progressing - - Clinical subtype - - - - - - - - - - 584 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=584 - Mucopolysaccharidosis type 7 - - Disease - - - - - - - - 580 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=580 - Mucopolysaccharidosis type 2 - - Disease - - - - - - 217085 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217085 - Mucopolysaccharidosis type 2, severe form - - Clinical subtype - - - - - - - - 217093 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217093 - Mucopolysaccharidosis type 2, attenuated form - - Clinical subtype - - - - - - - - - - 579 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=579 - Mucopolysaccharidosis type 1 - - Disease - - - - - - 93473 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93473 - Hurler syndrome - - Clinical subtype - - - - - - - - 93474 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93474 - Scheie syndrome - - Clinical subtype - - - - - - - - 93476 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93476 - Hurler-Scheie syndrome - - Clinical subtype - - - - - - - - - - 581 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=581 - Mucopolysaccharidosis type 3 - - Disease - - - - - - 79269 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79269 - Sanfilippo syndrome type A - - Etiological subtype - - - - - - - - 79270 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79270 - Sanfilippo syndrome type B - - Etiological subtype - - - - - - - - 79271 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79271 - Sanfilippo syndrome type C - - Etiological subtype - - - - - - - - 79272 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79272 - Sanfilippo syndrome type D - - Etiological subtype - - - - - - - - - - 582 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=582 - Mucopolysaccharidosis type 4 - - Disease - - - - - - 309297 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309297 - Mucopolysaccharidosis type 4A - - Clinical subtype - - - - - - - - 309310 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309310 - Mucopolysaccharidosis type 4B - - Clinical subtype - - - - - - - - - - 662216 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662216 - Mucopolysaccharidosis type 10 - - Disease - - - - - - - - - - 2645 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2645 - Osteoglosphonic dysplasia - - Malformation syndrome - - - - - - - - 904 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=904 - Williams syndrome - - Malformation syndrome - - - - - - - - 3270 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3270 - Radioulnar synostosis-developmental delay-hypotonia syndrome - - Malformation syndrome - - - - - - - - 369837 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369837 - Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome - - Malformation syndrome - - - - - - - - 1520 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1520 - Craniofrontonasal dysplasia - - Malformation syndrome - - - - - - - - 293843 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293843 - 3MC syndrome - - Malformation syndrome - - - - - - - - 2655 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2655 - Thanatophoric dysplasia - - Disease - - - - - - 1860 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1860 - Thanatophoric dysplasia type 1 - - Clinical subtype - - - - - - - - 93274 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93274 - Thanatophoric dysplasia type 2 - - Clinical subtype - - - - - - - - - - 763 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=763 - Pycnodysostosis - - Disease - - - - - - - - 1465 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1465 - Coffin-Siris syndrome - - Malformation syndrome - - - - - - - - 36 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36 - Acrocallosal syndrome - - Malformation syndrome - - - - - - - - 235 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=235 - Dubowitz syndrome - - Malformation syndrome - - - - - - - - 647681 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=647681 - Craniosynostosis-facial dysmorphism-Chiari-1 malformation-developmental and language delay syndrome - - Malformation syndrome - - - - - - - - 565858 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=565858 - Craniosynostosis-microretrognathia-severe intellectual disability syndrome - - Malformation syndrome - - - - - - - - 672979 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=672979 - Craniosynostosis-facial dysmorphism-brachydactyly syndrome - - Malformation syndrome - - - - - - - - 672985 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=672985 - Craniosynostosis-skeletal and cerebellar anomalies-learning disabilities syndrome - - Malformation syndrome - - - - - - - - 2332 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2332 - KBG syndrome - - Malformation syndrome - - - - - - - - 96169 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96169 - Koolen-De Vries syndrome - - Malformation syndrome - - - - - - 363958 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363958 - 17q21.31 microdeletion syndrome - - Etiological subtype - - - - - - - - 363965 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363965 - Koolen-De Vries syndrome due to a point mutation - - Etiological subtype - - - - - - - - - - 97297 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97297 - Bohring-Opitz syndrome - - Malformation syndrome - - - - - - - - 1906 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1906 - Fetal valproate spectrum disorder - - Malformation syndrome - - - - - - - - 710 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=710 - Pfeiffer syndrome - - Malformation syndrome - - - - - - 93258 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93258 - Pfeiffer syndrome type 1 - - Clinical subtype - - - - - - - - 93259 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93259 - Pfeiffer syndrome type 2 - - Clinical subtype - - - - - - - - 93260 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93260 - Pfeiffer syndrome type 3 - - Clinical subtype - - - - - - - - - - 794 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=794 - Saethre-Chotzen syndrome - - Malformation syndrome - - - - - - - - 65759 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65759 - Carpenter syndrome - - Malformation syndrome - - - - - - - - - - - - 66630 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66630 - Congenital pseudoarthrosis of the clavicle - - Disease - - - - - - - - 93453 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93453 - Dysostosis with predominant craniofacial involvement - - Category - - - - - - 1517 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1517 - Cantú syndrome - - Malformation syndrome - - - - - - - - 1794 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1794 - Oculomaxillofacial dysostosis - - Malformation syndrome - - - - - - - - 250 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=250 - Frontonasal dysplasia - - Clinical group - - - - - - 1519 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1519 - SPECC1L-related hypertelorism syndrome - - Malformation syndrome - - - - - - - - 1520 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1520 - Craniofrontonasal dysplasia - - Malformation syndrome - - - - - - - - 1521 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1521 - Craniofrontonasal dysplasia-Poland anomaly syndrome - - Malformation syndrome - - - - - - - - 1993 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1993 - Pai syndrome - - Malformation syndrome - - - - - - - - 1791 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1791 - Frontofacionasal dysplasia - - Malformation syndrome - - - - - - - - 1827 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1827 - Acromelic frontonasal dysplasia - - Malformation syndrome - - - - - - - - 228390 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228390 - Frontonasal dysplasia-alopecia-genital anomalies syndrome - - Malformation syndrome - - - - - - - - 306542 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306542 - Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome - - Malformation syndrome - - - - - - - - 391474 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391474 - Frontorhiny - - Malformation syndrome - - - - - - - - 398156 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398156 - Oculoauriculofrontonasal syndrome - - Malformation syndrome - - - - - - - - 488437 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488437 - SIX2-related frontonasal dysplasia - - Malformation syndrome - - - - - - - - 157832 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157832 - Craniorhiny - - Malformation syndrome - - - - - - - - 521308 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521308 - Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome - - Malformation syndrome - - - - - - - - - - 2549 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2549 - Oculoauriculovertebral spectrum with radial defects - - Malformation syndrome - - - - - - - - 2769 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2769 - Familial osteodysplasia, Anderson type - - Malformation syndrome - - - - - - - - 3291 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3291 - Teebi-Shaltout syndrome - - Malformation syndrome - - - - - - - - 363705 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363705 - Craniofaciofrontodigital syndrome - - Disease - - - - - - - - 155896 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=155896 - Otomandibular dysplasia - - Category - - - - - - 137888 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137888 - Auriculocondylar syndrome - - Malformation syndrome - - - - - - - - 141132 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141132 - Oculo-auriculo-vertebral spectrum - - Malformation syndrome - - - - - - - - 155899 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=155899 - Mandibulofacial dysostosis - - Clinical group - - - - - - 861 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=861 - Treacher-Collins syndrome - - Malformation syndrome - - - - - - - - 950 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=950 - Acrodysostosis - - Malformation syndrome - - - - - - - - 357158 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357158 - Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome - - Disease - - - - - - - - 443995 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443995 - Mandibulofacial dysostosis with alopecia - - Malformation syndrome - - - - - - - - - - 156202 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156202 - Otomandibular dysplasia associated with monogenic syndromes - - Category - - - - - - 107 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=107 - BOR syndrome - - Malformation syndrome - - - - - - - - 1296 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1296 - Lambert syndrome - - Malformation syndrome - - - - - - - - - - - - 140997 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140997 - Orofaciodigital syndrome - - Clinical group - - - - - - 2750 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2750 - Orofaciodigital syndrome type 1 - - Malformation syndrome - - - - - - - - 2751 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2751 - Orofaciodigital syndrome type 2 - - Malformation syndrome - - - - - - - - 2753 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2753 - Orofaciodigital syndrome type 4 - - Malformation syndrome - - - - - - - - 2754 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2754 - Orofaciodigital syndrome type 6 - - Malformation syndrome - - - - - - - - 2755 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2755 - Orofaciodigital syndrome type 8 - - Malformation syndrome - - - - - - - - 2919 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2919 - Orofaciodigital syndrome type 5 - - Malformation syndrome - - - - - - - - 141000 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141000 - Orofaciodigital syndrome type 11 - - Malformation syndrome - - - - - - - - 141007 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141007 - Orofaciodigital syndrome type 9 - - Malformation syndrome - - - - - - - - 434179 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=434179 - Orofaciodigital syndrome type 14 - - Malformation syndrome - - - - - - - - 508501 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508501 - Oral-facial-digital syndrome with short stature and brachymesophalangy - - Malformation syndrome - - - - - - - - - - 459061 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=459061 - Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome - - Malformation syndrome - - - - - - - - 314555 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314555 - Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome - - Malformation syndrome - - - - - - - - 3262 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3262 - Dobrow syndrome - - Malformation syndrome - - - - - - - - - - 93454 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93454 - Dysostosis with predominant vertebral and costal involvement - - Category - - - - - - 2311 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2311 - Autosomal recessive spondylocostal dysostosis - - Malformation syndrome - - - - - - - - 1552 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1552 - Currarino syndrome - - Malformation syndrome - - - - - - - - 1393 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1393 - Cerebrocostomandibular syndrome - - Malformation syndrome - - - - - - - - 1394 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1394 - Cerebrofaciothoracic dysplasia - - Malformation syndrome - - - - - - - - 2206 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2206 - Ankylosing vertebral hyperostosis with tylosis - - Malformation syndrome - - - - - - - - 2482 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2482 - Melhem-Fahl syndrome - - Malformation syndrome - - - - - - - - 2759 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2759 - Imperforate oropharynx-costovertebral anomalies syndrome - - Malformation syndrome - - - - - - - - 2840 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2840 - Pelvic dysplasia-arthrogryposis of lower limbs syndrome - - Malformation syndrome - - - - - - - - 1797 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1797 - Autosomal dominant spondylocostal dysostosis - - Malformation syndrome - - - - - - - - 3456 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3456 - Wildervanck syndrome - - Malformation syndrome - - - - - - - - 2062 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2062 - Progressive non-infectious anterior vertebral fusion - - Malformation syndrome - - - - - - - - 2345 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2345 - Isolated Klippel-Feil syndrome - - Malformation syndrome - - - - - - - - 66637 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66637 - Diaphanospondylodysostosis - - Malformation syndrome - - - - - - - - 85164 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85164 - Camptodactyly-tall stature-scoliosis-hearing loss syndrome - - Disease - - - - - - - - 2744 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2744 - Horizontal gaze palsy with progressive scoliosis - - Disease - - - - - - - - 329191 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329191 - Tall stature-long halluces-multiple extra-epiphyses syndrome - - Disease - - - - - - - - 447974 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447974 - Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome - - Malformation syndrome - - - - - - - - 505248 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=505248 - Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders - - Malformation syndrome - - - - - - - - 453499 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=453499 - Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome - - Malformation syndrome - - - - - - 352665 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352665 - Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion - - Etiological subtype - - - - - - - - 453504 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=453504 - Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation - - Etiological subtype - - - - - - - - - - - - 93455 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93455 - Patellar dysostosis - - Category - - - - - - 2614 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2614 - Nail-patella syndrome - - Malformation syndrome - - - - - - - - 1509 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1509 - Coxopodopatellar syndrome - - Disease - - - - - - - - 2554 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2554 - Ear-patella-short stature syndrome - - Malformation syndrome - - - - - - - - 86789 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86789 - Isolated patella aplasia/hypoplasia - - Morphological anomaly - - - - - - - - 293150 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293150 - Familial clubfoot due to PITX1 point mutation - - Etiological subtype - - - - - - - - 597749 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=597749 - KAT6B-related multiple congenital anomalies syndrome - - Clinical group - - - - - - 3047 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3047 - Blepharophimosis-intellectual disability syndrome, SBBYS type - - Malformation syndrome - - - - - - - - 85201 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85201 - Genitopatellar syndrome - - Malformation syndrome - - - - - - - - 597746 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=597746 - Blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome - - Malformation syndrome - - - - - - - - - - - - 404571 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404571 - Dysostosis of genetic origin with limb anomaly as a major feature - - Category - - - - - - 2793 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2793 - Otoonychoperoneal syndrome - - Malformation syndrome - - - - - - - - 3023 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3023 - External auditory canal atresia-vertical talus-hypertelorism syndrome - - Malformation syndrome - - - - - - - - 69028 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69028 - Dysostosis with brachydactyly - - Category - - - - - - 498451 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498451 - Dysostosis with brachydactyly without extraskeletal manifestations - - Category - - - - - - 1570 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1570 - Symbrachydactyly of hands and feet - - Malformation syndrome - - - - - - - - 1275 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1275 - Brachydactyly-elbow wrist dysplasia syndrome - - Malformation syndrome - - - - - - - - 633211 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=633211 - Preaxial digit brachydactyly-webbed fingers - - Malformation syndrome - - - - - - - - 93396 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93396 - Brachydactyly type A2 - - Malformation syndrome - - - - - - - - 93394 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93394 - Brachydactyly type A4 - - Malformation syndrome - - - - - - - - 93382 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93382 - Brachydactyly type A6 - - Malformation syndrome - - - - - - - - 93397 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93397 - Brachydactyly type A7 - - Malformation syndrome - - - - - - - - 93383 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93383 - Brachydactyly type B - - Malformation syndrome - - - - - - 140908 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140908 - Brachydactyly type B2 - - Clinical subtype - - - - - - - - 572385 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572385 - Brachydactyly type B1 - - Clinical subtype - - - - - - - - - - 498602 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498602 - Sugarman brachydactyly - - Morphological anomaly - - - - - - - - 2565 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2565 - Mononen-Karnes-Senac syndrome - - Malformation syndrome - - - - - - - - 85169 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85169 - Familial digital arthropathy-brachydactyly - - Malformation syndrome - - - - - - - - 93388 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93388 - Brachydactyly type A1 - - Malformation syndrome - - - - - - - - 93384 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93384 - Brachydactyly type C - - Malformation syndrome - - - - - - - - 93387 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93387 - Brachydactyly type E - - Malformation syndrome - - - - - - - - 1487 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1487 - Cooks syndrome - - Malformation syndrome - - - - - - - - 1319 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1319 - Camptobrachydactyly - - Malformation syndrome - - - - - - - - - - 498454 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498454 - Dysostosis with brachydactyly with extraskeletal manifestations - - Category - - - - - - 1278 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1278 - Brachydactyly-preaxial hallux varus syndrome - - Malformation syndrome - - - - - - - - 589608 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589608 - Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies - - Disease - - - - - - - - 166035 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166035 - Brachydactyly-short stature-retinitis pigmentosa syndrome - - Malformation syndrome - - - - - - - - 238744 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238744 - Mammary-digital-nail syndrome - - Malformation syndrome - - - - - - - - 783 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=783 - Rubinstein-Taybi syndrome - - Malformation syndrome - - - - - - 353277 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353277 - Rubinstein-Taybi syndrome due to CREBBP mutations - - Etiological subtype - - - - - - - - 353281 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353281 - Rubinstein-Taybi syndrome due to 16p13.3 microdeletion - - Etiological subtype - - - - - - - - 353284 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353284 - Rubinstein-Taybi syndrome due to EP300 haploinsufficiency - - Etiological subtype - - - - - - - - - - 1465 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1465 - Coffin-Siris syndrome - - Malformation syndrome - - - - - - - - 1001 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1001 - 2q37 microdeletion syndrome - - Malformation syndrome - - - - - - - - 247262 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247262 - Hyperphosphatasia-intellectual disability syndrome - - Disease - - - - - - - - 1276 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1276 - Brachydactyly-arterial hypertension syndrome - - Malformation syndrome - - - - - - - - 363417 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363417 - Temtamy preaxial brachydactyly syndrome - - Malformation syndrome - - - - - - - - 1078 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1078 - Thumb stiffness-brachydactyly-intellectual disability syndrome - - Malformation syndrome - - - - - - - - 1292 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1292 - Brachymorphism-onychodysplasia-dysphalangism syndrome - - Malformation syndrome - - - - - - - - 3433 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3433 - Microcephaly-brachydactyly-kyphoscoliosis syndrome - - Malformation syndrome - - - - - - - - 1305 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1305 - Feingold syndrome - - Malformation syndrome - - - - - - 391641 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391641 - Feingold syndrome type 1 - - Clinical subtype - - - - - - - - 391646 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391646 - Feingold syndrome type 2 - - Clinical subtype - - - - - - - - - - 2438 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2438 - Hand-foot-genital syndrome - - Malformation syndrome - - - - - - - - 974 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=974 - Adams-Oliver syndrome - - Malformation syndrome - - - - - - - - 1295 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1295 - Brachytelephalangy-dysmorphism-Kallmann syndrome - - Malformation syndrome - - - - - - - - 2911 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2911 - Poland syndrome - - Malformation syndrome - - - - - - - - 2956 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2956 - Acrodysplasia scoliosis - - Malformation syndrome - - - - - - - - 52056 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52056 - Ulnar/fibula ray defect-brachydactyly syndrome - - Malformation syndrome - - - - - - - - 1858 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1858 - Skeletal dysplasia-epilepsy-short stature syndrome - - Malformation syndrome - - - - - - - - 2946 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2946 - Brachydactyly-long thumb syndrome - - Malformation syndrome - - - - - - - - - - - - 93457 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93457 - Non-syndromic limb reduction defect - - Category - - - - - - 498457 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498457 - Non-syndromic longitudinal limb defect - - Category - - - - - - 2130 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2130 - Non-syndromic hemimelia - - Clinical group - - - - - - 93320 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93320 - Isolated ulnar hemimelia - - Morphological anomaly - - - - - - - - 93321 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93321 - Isolated radial hemimelia - - Morphological anomaly - - - - - - - - 93322 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93322 - Isolated tibial hemimelia - - Morphological anomaly - - - - - - - - 93323 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93323 - Isolated fibular hemimelia - - Morphological anomaly - - - - - - - - - - 294988 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294988 - Isolated hypoplasia of thumb - - Morphological anomaly - - - - - - - - - - 498461 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498461 - Non-syndromic terminal transverse limb defect - - Category - - - - - - 498491 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498491 - Non-syndromic complete hemimelia - - Category - - - - - - 294979 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294979 - Isolated absence of both forearm and hand - - Morphological anomaly - - - - - - - - 294981 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294981 - Isolated absence of both lower leg and foot - - Morphological anomaly - - - - - - - - - - 294983 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294983 - Isolated acheiria - - Morphological anomaly - - - - - - - - 294986 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294986 - Isolated apodia - - Morphological anomaly - - - - - - - - 294925 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294925 - Non-syndromic amelia - - Clinical group - - - - - - 294967 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294967 - Isolated amelia of upper limb - - Morphological anomaly - - - - - - - - 294969 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294969 - Isolated amelia of lower limb - - Morphological anomaly - - - - - - - - 294971 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294971 - Isolated tetra-amelia - - Morphological anomaly - - - - - - - - - - 973 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=973 - Isolated absence/hypoplasia of fingers excluding thumb, unilateral - - Morphological anomaly - - - - - - - - 931 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=931 - Isolated acheiropodia - - Morphological anomaly - - - - - - - - - - 294927 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294927 - Non-syndromic intercalary limb defects - - Clinical group - - - - - - 294973 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294973 - Isolated humeral agenesis/hypoplasia - - Morphological anomaly - - - - - - - - 294975 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294975 - Isolated absence of upper arm and forearm with hand present - - Morphological anomaly - - - - - - - - 294977 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294977 - Isolated absence of thigh and lower leg with foot present - - Morphological anomaly - - - - - - - - 1987 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1987 - Isolated femoral agenesis/hypoplasia - - Morphological anomaly - - - - - - - - 633228 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=633228 - Isolated proximal femoral focal deficiency - - Morphological anomaly - - - - - - - - 667589 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=667589 - Isolated congenital femoral bifurcation - - Morphological anomaly - - - - - - - - - - - - 93458 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93458 - Non-syndromic polydactyly, syndactyly and/or hyperphalangy - - Category - - - - - - 2913 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2913 - Non-syndromic polydactyly - - Category - - - - - - 498464 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498464 - Non-syndromic preaxial polydactyly - - Category - - - - - - 93336 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93336 - Polydactyly of a triphalangeal thumb - - Morphological anomaly - - - - - - - - 93337 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93337 - Polydactyly of an index finger - - Morphological anomaly - - - - - - - - 93338 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93338 - Polysyndactyly - - Morphological anomaly - - - - - - - - 93339 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93339 - Polydactyly of a biphalangeal thumb and/or hallux - - Morphological anomaly - - - - - - - - - - 498467 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498467 - Non-syndromic postaxial polydactyly - - Category - - - - - - 93334 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93334 - Postaxial polydactyly type A - - Morphological anomaly - - - - - - - - 93335 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93335 - Postaxial polydactyly type B - - Morphological anomaly - - - - - - - - - - 498470 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498470 - Non-syndromic complex polydactyly - - Category - - - - - - 498494 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498494 - Mirror-image polydactyly - - Morphological anomaly - - - - - - - - 295004 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295004 - Central polydactyly - - Morphological anomaly - - - - - - - - - - - - 90025 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90025 - Non-syndromic syndactyly - - Category - - - - - - 2498 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2498 - Syndactyly type 8 - - Morphological anomaly - - - - - - - - 93402 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93402 - Syndactyly type 1 - - Morphological anomaly - - - - - - 295187 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295187 - Zygodactyly type 1 - - Clinical subtype - - - - - - - - 295189 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295189 - Zygodactyly type 2 - - Clinical subtype - - - - - - - - 295191 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295191 - Zygodactyly type 3 - - Clinical subtype - - - - - - - - 295193 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295193 - Zygodactyly type 4 - - Clinical subtype - - - - - - - - - - 93403 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93403 - Syndactyly type 2 - - Morphological anomaly - - - - - - 295195 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295195 - Synpolydactyly type 1 - - Clinical subtype - - - - - - - - 295197 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295197 - Synpolydactyly type 2 - - Clinical subtype - - - - - - - - 295199 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295199 - Synpolydactyly type 3 - - Clinical subtype - - - - - - - - - - 93404 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93404 - Syndactyly type 3 - - Morphological anomaly - - - - - - - - 93405 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93405 - Syndactyly type 4 - - Morphological anomaly - - - - - - - - 93406 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93406 - Syndactyly type 5 - - Morphological anomaly - - - - - - - - 157801 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157801 - Mesoaxial synostotic syndactyly with phalangeal reduction - - Morphological anomaly - - - - - - - - 295012 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295012 - Syndactyly type 6 - - Morphological anomaly - - - - - - - - - - 295002 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295002 - Isolated hyperphalangy - - Morphological anomaly - - - - - - - - - - 93459 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93459 - Syndrome with synostosis or other joint formation defect - - Category - - - - - - 75496 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75496 - B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome - - Clinical subtype - - - - - - - - 1228 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1228 - Banki syndrome - - Malformation syndrome - - - - - - - - 1275 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1275 - Brachydactyly-elbow wrist dysplasia syndrome - - Malformation syndrome - - - - - - - - 1412 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1412 - Tarsal-carpal coalition syndrome - - Malformation syndrome - - - - - - - - 2760 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2760 - OSLAM syndrome - - Malformation syndrome - - - - - - - - 2900 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2900 - Leri pleonosteosis - - Malformation syndrome - - - - - - - - 3237 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3237 - Multiple synostoses syndrome - - Malformation syndrome - - - - - - - - 3246 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3246 - Symphalangism with multiple anomalies of hands and feet - - Malformation syndrome - - - - - - - - 3250 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3250 - Proximal symphalangism - - Malformation syndrome - - - - - - - - 3268 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3268 - Radioulnar synostosis-microcephaly-scoliosis syndrome - - Malformation syndrome - - - - - - - - 3270 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3270 - Radioulnar synostosis-developmental delay-hypotonia syndrome - - Malformation syndrome - - - - - - - - 71289 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71289 - Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome - - Malformation syndrome - - - - - - - - 3466 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3466 - WT limb-blood syndrome - - Disease - - - - - - - - - - 157808 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157808 - Isolated pseudoarthrosis of the limbs - - Morphological anomaly - - - - - - 295018 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295018 - Congenital pseudoarthrosis of the tibia - - Clinical subtype - - - - - - - - 295020 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295020 - Congenital pseudoarthrosis of the femur - - Clinical subtype - - - - - - - - 295022 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295022 - Congenital pseudoarthrosis of the fibula - - Clinical subtype - - - - - - - - 295024 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295024 - Congenital pseudoarthrosis of the radius - - Clinical subtype - - - - - - - - 295026 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295026 - Congenital pseudoarthrosis of the ulna - - Clinical subtype - - - - - - - - - - 199315 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199315 - Familial clubfoot with or without associated lower limb anomalies - - Malformation syndrome - - - - - - 238578 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238578 - Familial clubfoot due to 17q23.1q23.2 microduplication - - Etiological subtype - - - - - - - - 293144 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293144 - Familial clubfoot due to 5q31 microdeletion - - Etiological subtype - - - - - - - - 293150 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293150 - Familial clubfoot due to PITX1 point mutation - - Etiological subtype - - - - - - - - - - 228184 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228184 - Heart-hand syndrome - - Category - - - - - - 392 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=392 - Holt-Oram syndrome - - Malformation syndrome - - - - - - - - 1342 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1342 - Heart-hand syndrome type 3 - - Malformation syndrome - - - - - - - - 1350 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1350 - Heart-hand syndrome type 2 - - Malformation syndrome - - - - - - - - 2946 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2946 - Brachydactyly-long thumb syndrome - - Malformation syndrome - - - - - - - - 168796 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168796 - Heart-hand syndrome, Slovenian type - - Malformation syndrome - - - - - - - - 228190 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228190 - Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome - - Malformation syndrome - - - - - - - - 319340 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319340 - Carney complex-trismus-pseudocamptodactyly syndrome - - Disease - - - - - - - - - - 294949 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294949 - Non-syndromic joint formation defects - - Category - - - - - - 3248 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3248 - Isolated distal symphalangism - - Morphological anomaly - - - - - - - - 3265 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3265 - Isolated humero-radial synostosis - - Morphological anomaly - - - - - - - - 3266 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3266 - Isolated humero-radio-ulnar synostosis - - Morphological anomaly - - - - - - - - 3269 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3269 - Isolated radio-ulnar synostosis - - Morphological anomaly - - - - - - - - 94056 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94056 - Isolated humero-ulnar synostosis - - Morphological anomaly - - - - - - - - 295028 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295028 - Isolated tibio-fibular synostosis - - Morphological anomaly - - - - - - - - - - 294957 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294957 - Dysostosis with combined reduction defects of upper and lower limbs - - Category - - - - - - 1118 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1118 - Fibular aplasia-ectrodactyly syndrome - - Malformation syndrome - - - - - - - - 1121 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1121 - Radial deficiency-tibial hypoplasia syndrome - - Malformation syndrome - - - - - - - - 1122 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1122 - Ulnar hypoplasia-split foot syndrome - - Malformation syndrome - - - - - - - - 1986 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1986 - Gollop-Wolfgang complex - - Malformation syndrome - - - - - - - - 2019 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2019 - Femur-fibula-ulna complex - - Malformation syndrome - - - - - - - - 3329 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3329 - Tibial aplasia-ectrodactyly syndrome - - Malformation syndrome - - - - - - - - - - 294959 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294959 - Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy - - Category - - - - - - 658805 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=658805 - Greig cephalopolysyndactyly-contiguous gene syndrome - - Malformation syndrome - - - - - - - - 567502 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=567502 - B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome - - Disease - - - - - - - - 85203 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85203 - Acropectoral syndrome - - Malformation syndrome - - - - - - - - 93409 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93409 - Brachydactyly-syndactyly, Zhao type - - Malformation syndrome - - - - - - - - 140952 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140952 - Syndactyly-telecanthus-anogenital and renal malformations syndrome - - Malformation syndrome - - - - - - - - 140997 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140997 - Orofaciodigital syndrome - - Clinical group - - - - - - 2750 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2750 - Orofaciodigital syndrome type 1 - - Malformation syndrome - - - - - - - - 2751 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2751 - Orofaciodigital syndrome type 2 - - Malformation syndrome - - - - - - - - 2753 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2753 - Orofaciodigital syndrome type 4 - - Malformation syndrome - - - - - - - - 2754 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2754 - Orofaciodigital syndrome type 6 - - Malformation syndrome - - - - - - - - 2755 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2755 - Orofaciodigital syndrome type 8 - - Malformation syndrome - - - - - - - - 2919 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2919 - Orofaciodigital syndrome type 5 - - Malformation syndrome - - - - - - - - 141000 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141000 - Orofaciodigital syndrome type 11 - - Malformation syndrome - - - - - - - - 141007 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141007 - Orofaciodigital syndrome type 9 - - Malformation syndrome - - - - - - - - 434179 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=434179 - Orofaciodigital syndrome type 14 - - Malformation syndrome - - - - - - - - 508501 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508501 - Oral-facial-digital syndrome with short stature and brachymesophalangy - - Malformation syndrome - - - - - - - - - - 357332 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357332 - Syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome - - Malformation syndrome - - - - - - - - 369979 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369979 - Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome - - Malformation syndrome - - - - - - - - 420584 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420584 - Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome - - Malformation syndrome - - - - - - - - 857 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=857 - Townes-Brocks syndrome - - Malformation syndrome - - - - - - - - 564 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=564 - Meckel syndrome - - Malformation syndrome - - - - - - - - 36 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36 - Acrocallosal syndrome - - Malformation syndrome - - - - - - - - 957 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=957 - Acropectorovertebral dysplasia - - Malformation syndrome - - - - - - - - 1003 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1003 - Scalp defects-postaxial polydactyly syndrome - - Malformation syndrome - - - - - - - - 1113 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1113 - Aphalangy-syndactyly-microcephaly syndrome - - Malformation syndrome - - - - - - - - 1388 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1388 - Catel-Manzke syndrome - - Malformation syndrome - - - - - - - - 1527 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1527 - Craniosynostosis, Philadelphia type - - Malformation syndrome - - - - - - - - 1566 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1566 - Dandy-Walker malformation-postaxial polydactyly syndrome - - Malformation syndrome - - - - - - - - 1757 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1757 - Fibular dimelia-diplopodia syndrome - - Malformation syndrome - - - - - - - - 1892 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1892 - Ectrodactyly-polydactyly syndrome - - Malformation syndrome - - - - - - - - 1986 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1986 - Gollop-Wolfgang complex - - Malformation syndrome - - - - - - - - 380 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=380 - Greig cephalopolysyndactyly syndrome - - Malformation syndrome - - - - - - - - 2110 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2110 - Hallux varus-preaxial polysyndactyly syndrome - - Malformation syndrome - - - - - - - - 672 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=672 - Pallister-Hall syndrome - - Malformation syndrome - - - - - - - - 2363 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2363 - Lacrimoauriculodentodigital syndrome - - Malformation syndrome - - - - - - - - 2378 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2378 - Laurin-Sandrow syndrome - - Malformation syndrome - - - - - - - - 2854 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2854 - Fuhrmann syndrome - - Malformation syndrome - - - - - - - - 2917 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2917 - Polydactyly-myopia syndrome - - Malformation syndrome - - - - - - - - 2920 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2920 - Oliver syndrome - - Malformation syndrome - - - - - - - - 2935 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2935 - Crossed polysyndactyly - - Malformation syndrome - - - - - - - - 2947 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2947 - Triphalangeal thumbs-brachyectrodactyly syndrome - - Malformation syndrome - - - - - - - - 2957 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2957 - Guttmacher syndrome - - Malformation syndrome - - - - - - - - 3004 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3004 - Mirror polydactyly-vertebral segmentation-limbs defects syndrome - - Malformation syndrome - - - - - - - - 3168 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3168 - Sillence syndrome - - Malformation syndrome - - - - - - - - 3172 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3172 - Eyebrow duplication-syndactyly syndrome - - Malformation syndrome - - - - - - - - 3246 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3246 - Symphalangism with multiple anomalies of hands and feet - - Malformation syndrome - - - - - - - - 3255 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3255 - Filippi syndrome - - Malformation syndrome - - - - - - - - 3258 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3258 - Cenani-Lenz syndrome - - Malformation syndrome - - - - - - - - 3328 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3328 - Absent tibia-polydactyly-arachnoid cyst syndrome - - Malformation syndrome - - - - - - - - 3259 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3259 - Syndactyly-polydactyly-ear lobe syndrome - - Malformation syndrome - - - - - - - - 818 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=818 - Smith-Lemli-Opitz syndrome - - Malformation syndrome - - - - - - - - 71271 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71271 - Split hand-split foot-deafness syndrome - - Malformation syndrome - - - - - - - - 2492 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2492 - FATCO syndrome - - Malformation syndrome - - - - - - - - 476119 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=476119 - Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome - - Malformation syndrome - - - - - - - - 488232 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488232 - Split-foot malformation-mesoaxial polydactyly syndrome - - Malformation syndrome - - - - - - - - - - 364198 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=364198 - Bipartite talus - - Morphological anomaly - - - - - - - - 364571 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=364571 - Dysostosis with limb and face anomalies as a major feature - - Category - - - - - - 2749 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2749 - Oromandibular-limb hypogenesis syndrome - - Clinical group - - - - - - 1406 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1406 - Charlie M syndrome - - Malformation syndrome - - - - - - - - 989 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=989 - Hypoglossia-hypodactyly syndrome - - Malformation syndrome - - - - - - - - 141163 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141163 - Glossopalatine ankylosis - - Malformation syndrome - - - - - - - - - - 199332 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199332 - Endocrine-cerebro-osteodysplasia syndrome - - Malformation syndrome - - - - - - - - 364574 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=364574 - Acrofacial dysostosis - - Clinical group - - - - - - 245 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=245 - Nager syndrome - - Malformation syndrome - - - - - - - - 246 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=246 - Postaxial acrofacial dysostosis - - Malformation syndrome - - - - - - - - 949 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=949 - Acrocraniofacial dysostosis - - Malformation syndrome - - - - - - - - 952 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=952 - Acrofacial dysostosis, Weyers type - - Malformation syndrome - - - - - - - - 1131 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1131 - X-linked mandibulofacial dysostosis - - Malformation syndrome - - - - - - - - 1520 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1520 - Craniofrontonasal dysplasia - - Malformation syndrome - - - - - - - - 1784 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1784 - Acrofrontofacionasal dysostosis - - Malformation syndrome - - - - - - - - 1786 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1786 - Acrofacial dysostosis, Catania type - - Malformation syndrome - - - - - - - - 1788 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1788 - Acrofacial dysostosis, Rodríguez type - - Malformation syndrome - - - - - - - - 2439 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2439 - Patterson-Stevenson-Fontaine syndrome - - Malformation syndrome - - - - - - - - 1827 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1827 - Acromelic frontonasal dysplasia - - Malformation syndrome - - - - - - - - 1787 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1787 - Acrofacial dysostosis, Palagonia type - - Malformation syndrome - - - - - - - - 64542 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64542 - Acrofacial dysostosis, Kennedy-Teebi type - - Malformation syndrome - - - - - - - - 79113 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79113 - Mandibulofacial dysostosis-microcephaly syndrome - - Malformation syndrome - - - - - - - - 3102 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3102 - Richieri Costa-Pereira syndrome - - Malformation syndrome - - - - - - - - - - - - 404574 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404574 - Genetic syndrome with limb reduction defects - - Category - - - - - - 1891 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1891 - Intellectual disability-spasticity-ectrodactyly syndrome - - Malformation syndrome - - - - - - - - 392 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=392 - Holt-Oram syndrome - - Malformation syndrome - - - - - - - - 1326 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1326 - Camptodactyly syndrome, Guadalajara type 2 - - Malformation syndrome - - - - - - - - 2492 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2492 - FATCO syndrome - - Malformation syndrome - - - - - - - - 238744 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238744 - Mammary-digital-nail syndrome - - Malformation syndrome - - - - - - - - 329319 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329319 - Thrombocythemia with distal limb defects - - Disease - - - - - - - - 199 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199 - Cornelia de Lange syndrome - - Malformation syndrome - - - - - - - - 3320 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3320 - Thrombocytopenia-absent radius syndrome - - Malformation syndrome - - - - - - - - 84 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=84 - Fanconi anemia - - Malformation syndrome - - - - - - - - 3103 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3103 - Roberts syndrome - - Malformation syndrome - - - - - - - - 974 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=974 - Adams-Oliver syndrome - - Malformation syndrome - - - - - - - - 978 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=978 - ADULT syndrome - - Malformation syndrome - - - - - - - - 988 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=988 - Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome - - Malformation syndrome - - - - - - - - 989 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=989 - Hypoglossia-hypodactyly syndrome - - Malformation syndrome - - - - - - - - 1071 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1071 - Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome - - Malformation syndrome - - - - - - 1072 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1072 - Ankyloblepharon filiforme adnatum-cleft palate syndrome - - Clinical subtype - - - - - - - - 1074 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1074 - Ankyloblepharon filiforme adnatum-imperforate anus syndrome - - Clinical subtype - - - - - - - - - - 1112 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1112 - Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome - - Malformation syndrome - - - - - - - - 1113 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1113 - Aphalangy-syndactyly-microcephaly syndrome - - Malformation syndrome - - - - - - - - 1972 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1972 - Lethal faciocardiomelic dysplasia - - Malformation syndrome - - - - - - - - 1986 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1986 - Gollop-Wolfgang complex - - Malformation syndrome - - - - - - - - 1988 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1988 - Femoral-facial syndrome - - Malformation syndrome - - - - - - - - 2063 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2063 - Splenogonadal fusion-limb defects-micrognathia syndrome - - Malformation syndrome - - - - - - - - 2249 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2249 - Ulna hypoplasia-intellectual disability syndrome - - Malformation syndrome - - - - - - - - 2307 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2307 - IVIC syndrome - - Malformation syndrome - - - - - - - - 2310 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2310 - Absence deformity of leg-cataract syndrome - - Malformation syndrome - - - - - - - - 2329 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2329 - Karsch-Neugebauer syndrome - - Malformation syndrome - - - - - - - - 2564 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2564 - Tetramelic monodactyly - - Malformation syndrome - - - - - - - - 2639 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2639 - Fibular aplasia-complex brachydactyly syndrome - - Malformation syndrome - - - - - - - - 2730 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2730 - Postaxial tetramelic oligodactyly - - Malformation syndrome - - - - - - - - 2839 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2839 - Pelvis-shoulder dysplasia - - Malformation syndrome - - - - - - - - 2854 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2854 - Fuhrmann syndrome - - Malformation syndrome - - - - - - - - 2879 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2879 - Phocomelia, Schinzel type - - Malformation syndrome - - - - - - - - 3015 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3015 - Radio-renal syndrome - - Malformation syndrome - - - - - - - - 3016 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3016 - Absent radius-anogenital anomalies syndrome - - Malformation syndrome - - - - - - - - 3021 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3021 - RAPADILINO syndrome - - Malformation syndrome - - - - - - - - 3138 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3138 - Ulnar-mammary syndrome - - Malformation syndrome - - - - - - - - 3301 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3301 - Tetraamelia-multiple malformations syndrome - - Malformation syndrome - - - - - - - - 3328 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3328 - Absent tibia-polydactyly-arachnoid cyst syndrome - - Malformation syndrome - - - - - - - - 3329 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3329 - Tibial aplasia-ectrodactyly syndrome - - Malformation syndrome - - - - - - - - 3383 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3383 - Humerus trochlea aplasia - - Malformation syndrome - - - - - - - - 71271 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71271 - Split hand-split foot-deafness syndrome - - Malformation syndrome - - - - - - - - 93293 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93293 - Okihiro syndrome - - Malformation syndrome - - - - - - 261638 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261638 - Okihiro syndrome due to 20q13 microdeletion - - Etiological subtype - - - - - - - - 261647 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261647 - Okihiro syndrome due to a point mutation - - Etiological subtype - - - - - - - - - - 93333 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93333 - Pelviscapular dysplasia - - Malformation syndrome - - - - - - - - 1354 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1354 - Heart defects-limb shortening syndrome - - Malformation syndrome - - - - - - - - 221139 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221139 - Combined immunodeficiency with facio-oculo-skeletal anomalies - - Disease - - - - - - - - 496693 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=496693 - Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome - - Malformation syndrome - - - - - - - - 508542 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508542 - Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome - - Disease - - - - - - - - 488232 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488232 - Split-foot malformation-mesoaxial polydactyly syndrome - - Malformation syndrome - - - - - - - - - - 498477 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498477 - Ectrodactyly with and without other manifestations - - Category - - - - - - 1897 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1897 - EEM syndrome - - Malformation syndrome - - - - - - - - 69085 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69085 - Limb-mammary syndrome - - Malformation syndrome - - - - - - - - 1118 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1118 - Fibular aplasia-ectrodactyly syndrome - - Malformation syndrome - - - - - - - - 1892 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1892 - Ectrodactyly-polydactyly syndrome - - Malformation syndrome - - - - - - - - 1406 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1406 - Charlie M syndrome - - Malformation syndrome - - - - - - - - 1986 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1986 - Gollop-Wolfgang complex - - Malformation syndrome - - - - - - - - 2439 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2439 - Patterson-Stevenson-Fontaine syndrome - - Malformation syndrome - - - - - - - - 1896 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1896 - EEC syndrome - - Malformation syndrome - - - - - - - - 978 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=978 - ADULT syndrome - - Malformation syndrome - - - - - - - - 2117 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2117 - Hartsfield syndrome - - Malformation syndrome - - - - - - - - 2440 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2440 - Isolated split hand-split foot malformation - - Malformation syndrome - - - - - - - - 3329 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3329 - Tibial aplasia-ectrodactyly syndrome - - Malformation syndrome - - - - - - - - - - 488434 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488434 - Camptodactyly syndrome, Guadalajara type 3 - - Malformation syndrome - - - - - - - - - - - - - - 183530 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183530 - Rare genetic developmental defect during embryogenesis - - Category - - - - - - 2847 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2847 - Pericardial and diaphragmatic defect - - Malformation syndrome - - - - - - - - 98196 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98196 - Malformation syndrome with hamartosis - - Category - - - - - - 892 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=892 - Von Hippel-Lindau disease - - Disease - - - - - - - - 377 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=377 - Gorlin syndrome - - Malformation syndrome - - - - - - - - 2869 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2869 - Peutz-Jeghers syndrome - - Disease - - - - - - - - 774 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=774 - Hereditary hemorrhagic telangiectasia - - Disease - - - - - - - - 1775 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1775 - Dyskeratosis congenita - - Disease - - - - - - - - 2346 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2346 - Angioosteohypertrophic syndrome - - Clinical group - - - - - - 90308 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90308 - Capillary-lymphatic-venous malformation with segmental distribution - - Disease - - - - - - - - 90307 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90307 - Parkes Weber syndrome - - Disease - - - - - - - - - - 2612 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2612 - Linear nevus sebaceus syndrome - - Disease - - - - - - - - 3205 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3205 - Sturge-Weber syndrome - - Malformation syndrome - - - - - - - - 805 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=805 - Tuberous sclerosis complex - - Disease - - - - - - - - 638 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=638 - Neurofibromatosis-Noonan syndrome - - Malformation syndrome - - - - - - - - 500 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500 - Noonan syndrome with multiple lentigines - - Malformation syndrome - - - - - - - - 1062 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1062 - Hereditary neurocutaneous malformation - - Disease - - - - - - - - 2092 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2092 - Focal dermal hypoplasia - - Malformation syndrome - - - - - - - - 296 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=296 - Ollier disease - - Disease - - - - - - - - 2874 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2874 - Phakomatosis pigmentokeratotica - - Malformation syndrome - - - - - - - - 2875 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2875 - Phakomatosis pigmentovascularis - - Disease - - - - - - 79483 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79483 - Phakomatosis cesioflammea - - Clinical subtype - - - - - - - - 79484 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79484 - Phakomatosis cesiomarmorata - - Clinical subtype - - - - - - - - 79485 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79485 - Phakomatosis spilorosea - - Clinical subtype - - - - - - - - - - 64755 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64755 - Becker nevus syndrome - - Disease - - - - - - - - 93921 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93921 - Full schwannomatosis - - Disease - - - - - - - - 163634 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163634 - Maffucci syndrome - - Disease - - - - - - - - 276280 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276280 - Hemihyperplasia-multiple lipomatosis syndrome - - Malformation syndrome - - - - - - - - 306498 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306498 - PTEN hamartoma tumor syndrome - - Disease - - - - - - 201 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=201 - Cowden syndrome - - Clinical subtype - - - - - - - - 65285 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65285 - Lhermitte-Duclos disease - - Clinical subtype - - - - - - - - 109 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=109 - Bannayan-Riley-Ruvalcaba syndrome - - Clinical subtype - - - - - - - - 2969 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2969 - Proteus-like syndrome - - Clinical subtype - - - - - - - - 137608 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137608 - Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome - - Clinical subtype - - - - - - - - - - - - 139009 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139009 - Developmental anomaly of metabolic origin - - Category - - - - - - 585 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=585 - Multiple sulfatase deficiency - - Disease - - - - - - - - 324 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324 - Fabry disease - - Disease - - - - - - - - 436 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436 - Hypophosphatasia - - Disease - - - - - - 247623 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247623 - Perinatal lethal hypophosphatasia - - Clinical subtype - - - - - - - - 247638 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247638 - Prenatal benign hypophosphatasia - - Clinical subtype - - - - - - - - 247651 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247651 - Infantile hypophosphatasia - - Clinical subtype - - - - - - - - 247667 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247667 - Childhood-onset hypophosphatasia - - Clinical subtype - - - - - - - - 247676 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247676 - Adult hypophosphatasia - - Clinical subtype - - - - - - - - 247685 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247685 - Odontohypophosphatasia - - Clinical subtype - - - - - - - - - - 394 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=394 - Homocystinuria due to cystathionine beta-synthase deficiency - - Disease - - - - - - - - 912 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=912 - Zellweger syndrome - - Disease - - - - - - - - 833 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=833 - Encephalopathy due to sulfite oxidase deficiency - - Disease - - - - - - 99731 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99731 - Isolated sulfite oxidase deficiency - - Clinical subtype - - - - - - - - 99732 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99732 - Sulfite oxidase deficiency due to molybdenum cofactor deficiency - - Clinical subtype - - - - - - 308386 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308386 - Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A - - Etiological subtype - - - - - - - - 308393 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308393 - Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B - - Etiological subtype - - - - - - - - 308400 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308400 - Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C - - Etiological subtype - - - - - - - - - - - - 772 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=772 - Infantile Refsum disease - - Disease - - - - - - - - 79195 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79195 - Sterol biosynthesis disorder - - Category - - - - - - 488168 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488168 - Microcephaly-congenital cataract-psoriasiform dermatitis syndrome - - Malformation syndrome - - - - - - - - 1426 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1426 - Greenberg dysplasia - - Disease - - - - - - - - 139 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139 - CHILD syndrome - - Disease - - - - - - - - 818 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=818 - Smith-Lemli-Opitz syndrome - - Malformation syndrome - - - - - - - - 35107 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35107 - Desmosterolosis - - Disease - - - - - - - - 35173 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35173 - X-linked dominant chondrodysplasia punctata - - Disease - - - - - - - - 46059 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=46059 - Lathosterolosis - - Disease - - - - - - - - 309025 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309025 - Mevalonate kinase deficiency - - Disease - - - - - - 29 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=29 - Mevalonic aciduria - - Clinical subtype - - - - - - - - 343 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=343 - Hyperimmunoglobulinemia D with periodic fever - - Clinical subtype - - - - - - - - - - 401973 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401973 - MEND syndrome - - Malformation syndrome - - - - - - - - 251383 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251383 - CK syndrome - - Malformation syndrome - - - - - - - - - - 79212 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79212 - Mucolipidosis - - Category - - - - - - 576 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=576 - Mucolipidosis type II - - Disease - - - - - - - - 577 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=577 - Mucolipidosis type III - - Disease - - - - - - 423461 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423461 - Mucolipidosis type III alpha/beta - - Clinical subtype - - - - - - - - 423470 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423470 - Mucolipidosis type III gamma - - Clinical subtype - - - - - - - - - - 578 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=578 - Mucolipidosis type IV - - Disease - - - - - - - - - - 79213 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79213 - Mucopolysaccharidosis - - Category - - - - - - 67041 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=67041 - Hyaluronidase deficiency - - Disease - - - - - - - - 583 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=583 - Mucopolysaccharidosis type 6 - - Disease - - - - - - 276212 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276212 - Mucopolysaccharidosis type 6, rapidly progressing - - Clinical subtype - - - - - - - - 276223 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276223 - Mucopolysaccharidosis type 6, slowly progressing - - Clinical subtype - - - - - - - - - - 584 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=584 - Mucopolysaccharidosis type 7 - - Disease - - - - - - - - 580 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=580 - Mucopolysaccharidosis type 2 - - Disease - - - - - - 217085 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217085 - Mucopolysaccharidosis type 2, severe form - - Clinical subtype - - - - - - - - 217093 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217093 - Mucopolysaccharidosis type 2, attenuated form - - Clinical subtype - - - - - - - - - - 579 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=579 - Mucopolysaccharidosis type 1 - - Disease - - - - - - 93473 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93473 - Hurler syndrome - - Clinical subtype - - - - - - - - 93474 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93474 - Scheie syndrome - - Clinical subtype - - - - - - - - 93476 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93476 - Hurler-Scheie syndrome - - Clinical subtype - - - - - - - - - - 581 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=581 - Mucopolysaccharidosis type 3 - - Disease - - - - - - 79269 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79269 - Sanfilippo syndrome type A - - Etiological subtype - - - - - - - - 79270 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79270 - Sanfilippo syndrome type B - - Etiological subtype - - - - - - - - 79271 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79271 - Sanfilippo syndrome type C - - Etiological subtype - - - - - - - - 79272 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79272 - Sanfilippo syndrome type D - - Etiological subtype - - - - - - - - - - 582 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=582 - Mucopolysaccharidosis type 4 - - Disease - - - - - - 309297 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309297 - Mucopolysaccharidosis type 4A - - Clinical subtype - - - - - - - - 309310 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309310 - Mucopolysaccharidosis type 4B - - Clinical subtype - - - - - - - - - - 662216 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662216 - Mucopolysaccharidosis type 10 - - Disease - - - - - - - - - - 79215 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79215 - Oligosaccharidosis - - Category - - - - - - 61 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=61 - Alpha-mannosidosis - - Disease - - - - - - 309282 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309282 - Alpha-mannosidosis, infantile form - - Clinical subtype - - - - - - - - 309288 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309288 - Alpha-mannosidosis, adult form - - Clinical subtype - - - - - - - - - - 93 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93 - Aspartylglucosaminuria - - Disease - - - - - - - - 118 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=118 - Beta-mannosidosis - - Disease - - - - - - - - 349 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=349 - Fucosidosis - - Disease - - - - - - - - 351 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=351 - Galactosialidosis - - Disease - - - - - - - - 3137 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3137 - Alpha-N-acetylgalactosaminidase deficiency - - Disease - - - - - - 79279 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79279 - Alpha-N-acetylgalactosaminidase deficiency type 1 - - Clinical subtype - - - - - - - - 79280 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79280 - Alpha-N-acetylgalactosaminidase deficiency type 2 - - Clinical subtype - - - - - - - - 79281 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79281 - Alpha-N-acetylgalactosaminidase deficiency type 3 - - Clinical subtype - - - - - - - - - - 309294 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309294 - Sialidosis - - Clinical group - - - - - - 812 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=812 - Sialidosis type 1 - - Disease - - - - - - - - 87876 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=87876 - Sialidosis type 2 - - Disease - - - - - - 93399 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93399 - Juvenile sialidosis type 2 - - Clinical subtype - - - - - - - - 93400 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93400 - Congenital sialidosis type 2 - - Clinical subtype - - - - - - - - - - - - - - 97593 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97593 - Pseudohypoparathyroidism - - Category - - - - - - 457062 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457062 - Pseudohypoparathyroidism without Albright hereditary osteodystrophy - - Clinical group - - - - - - 94089 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94089 - Pseudohypoparathyroidism type 1B - - Disease - - - - - - - - 94090 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94090 - Pseudohypoparathyroidism type 2 - - Disease - - - - - - - - - - 457059 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457059 - Pseudohypoparathyroidism with Albright hereditary osteodystrophy - - Clinical group - - - - - - 79443 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79443 - Pseudohypoparathyroidism type 1A - - Disease - - - - - - - - 79444 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79444 - Pseudohypoparathyroidism type 1C - - Disease - - - - - - - - 79445 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79445 - Pseudopseudohypoparathyroidism - - Disease - - - - - - - - - - - - 369942 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369942 - CADDS - - Disease - - - - - - - - 371235 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=371235 - Congenital disorder of glycosylation with developmental anomaly - - Category - - - - - - 272 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=272 - Congenital muscular dystrophy, Fukuyama type - - Malformation syndrome - - - - - - - - 899 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=899 - Walker-Warburg syndrome - - Disease - - - - - - - - 588 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=588 - Muscle-eye-brain disease - - Malformation syndrome - - - - - - - - 79332 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79332 - B4GALT1-CDG - - Disease - - - - - - - - 280633 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280633 - Multiple congenital anomalies-hypotonia-seizures syndrome - - Malformation syndrome - - - - - - - - 300496 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300496 - Multiple congenital anomalies-hypotonia-seizures syndrome type 2 - - Malformation syndrome - - - - - - - - 356961 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=356961 - SLC35A2-CDG - - Disease - - - - - - - - 370930 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370930 - XYLT1-CDG - - Disease - - - - - - - - 370943 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370943 - Autism spectrum disorder-epilepsy-arthrogryposis syndrome - - Disease - - - - - - - - 371183 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=371183 - Congenital disorder of glycosylation with cardiac malformation as a major feature - - Category - - - - - - 709 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=709 - Peters plus syndrome - - Malformation syndrome - - - - - - - - 2953 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2953 - Musculocontractural Ehlers-Danlos syndrome - - Disease - - - - - - - - 3474 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3474 - CHIME syndrome - - Malformation syndrome - - - - - - - - 79329 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79329 - MGAT2-CDG - - Disease - - - - - - - - 79333 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79333 - COG7-CDG - - Disease - - - - - - - - 284139 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284139 - Larsen-like syndrome, B3GAT3 type - - Malformation syndrome - - - - - - - - - - 371195 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=371195 - Congenital disorder of glycosylation-related bone disorder - - Category - - - - - - 2311 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2311 - Autosomal recessive spondylocostal dysostosis - - Malformation syndrome - - - - - - - - 3144 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3144 - Schneckenbecken dysplasia - - Malformation syndrome - - - - - - - - 321 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=321 - Multiple osteochondromas - - Disease - - - - - - - - 75496 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75496 - B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome - - Clinical subtype - - - - - - - - 247262 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247262 - Hyperphosphatasia-intellectual disability syndrome - - Disease - - - - - - - - 263463 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263463 - CHST3-related skeletal dysplasia - - Disease - - - - - - - - 263508 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263508 - COG1-CDG - - Disease - - - - - - - - 284139 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284139 - Larsen-like syndrome, B3GAT3 type - - Malformation syndrome - - - - - - - - 314667 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314667 - TMEM165-CDG - - Disease - - - - - - - - 357058 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357058 - Autosomal recessive cutis laxa type 2A - - Disease - - - - - - 2834 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2834 - Wrinkly skin syndrome - - Clinical subtype - - - - - - - - 357074 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357074 - Autosomal recessive cutis laxa type 2, classic type - - Clinical subtype - - - - - - - - - - 363417 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363417 - Temtamy preaxial brachydactyly syndrome - - Malformation syndrome - - - - - - - - 369837 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369837 - Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome - - Malformation syndrome - - - - - - - - 536467 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=536467 - B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome - - Clinical subtype - - - - - - - - - - 371212 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=371212 - Congenital disorder of glycosylation with deafness as a major feature - - Category - - - - - - 3474 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3474 - CHIME syndrome - - Malformation syndrome - - - - - - - - 244310 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=244310 - RFT1-CDG - - Disease - - - - - - - - 363417 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363417 - Temtamy preaxial brachydactyly syndrome - - Malformation syndrome - - - - - - - - - - - - - - 139027 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139027 - Rare developmental defect with skin/mucosae involvement - - Category - - - - - - 230857 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=230857 - Ehlers-Danlos/osteogenesis imperfecta syndrome - - Disease - - - - - - - - 100 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100 - Ataxia-telangiectasia - - Disease - - - - - - - - 774 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=774 - Hereditary hemorrhagic telangiectasia - - Disease - - - - - - - - 3071 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3071 - Costello syndrome - - Malformation syndrome - - - - - - - - 191 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=191 - Cockayne syndrome - - Disease - - - - - - 1466 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1466 - COFS syndrome - - Clinical subtype - - - - - - - - 90321 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90321 - Cockayne syndrome type 1 - - Clinical subtype - - - - - - - - 90322 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90322 - Cockayne syndrome type 2 - - Clinical subtype - - - - - - - - 90324 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90324 - Cockayne syndrome type 3 - - Clinical subtype - - - - - - - - - - 3440 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3440 - Waardenburg syndrome - - Disease - - - - - - 894 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=894 - Waardenburg syndrome type 1 - - Clinical subtype - - - - - - - - 895 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=895 - Waardenburg syndrome type 2 - - Clinical subtype - - - - - - - - 896 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=896 - Waardenburg syndrome type 3 - - Clinical subtype - - - - - - - - - - 902 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=902 - Werner syndrome - - Disease - - - - - - - - 113 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=113 - Bazex-Dupré-Christol syndrome - - Disease - - - - - - - - 500 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500 - Noonan syndrome with multiple lentigines - - Malformation syndrome - - - - - - - - 37 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=37 - Acrodermatitis enteropathica - - Disease - - - - - - - - 1116 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1116 - Aplasia cutis congenita-intestinal lymphangiectasia syndrome - - Disease - - - - - - - - 1117 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1117 - Aplasia cutis-myopia syndrome - - Disease - - - - - - - - 1253 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1253 - Ascher syndrome - - Malformation syndrome - - - - - - - - 1662 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1662 - Restrictive dermopathy - - Disease - - - - - - - - 2176 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2176 - Infantile systemic hyalinosis - - Clinical subtype - - - - - - - - 139 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139 - CHILD syndrome - - Disease - - - - - - - - 2272 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2272 - Ichthyosis-oral and digital anomalies syndrome - - Malformation syndrome - - - - - - - - 2273 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2273 - Ichthyosis follicularis-alopecia-photophobia syndrome - - Disease - - - - - - - - 2309 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2309 - Pachyonychia congenita - - Disease - - - - - - - - 2556 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2556 - Microphthalmia with linear skin defects syndrome - - Malformation syndrome - - - - - - - - 740 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=740 - Hutchinson-Gilford progeria syndrome - - Disease - - - - - - - - 2959 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2959 - Progeria-short stature-pigmented nevi syndrome - - Malformation syndrome - - - - - - - - 3455 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3455 - Wiedemann-Rautenstrauch syndrome - - Malformation syndrome - - - - - - - - 910 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=910 - Xeroderma pigmentosum - - Disease - - - - - - - - 209 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209 - Cutis laxa - - Clinical group - - - - - - 2078 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2078 - Geroderma osteodysplastica - - Malformation syndrome - - - - - - - - 2962 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2962 - De Barsy syndrome - - Disease - - - - - - 35664 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35664 - ALDH18A1-related De Barsy syndrome - - Etiological subtype - - - - - - - - 293633 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293633 - PYCR1-related De Barsy syndrome - - Etiological subtype - - - - - - - - - - 3134 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3134 - SCARF syndrome - - Malformation syndrome - - - - - - - - 3342 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3342 - Arterial tortuosity syndrome - - Malformation syndrome - - - - - - - - 198 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=198 - Occipital horn syndrome - - Disease - - - - - - - - 90348 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90348 - Autosomal dominant cutis laxa - - Disease - - - - - - - - 90349 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90349 - Autosomal recessive cutis laxa type 1 - - Disease - - - - - - - - 90350 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90350 - Autosomal recessive cutis laxa type 2 - - Clinical group - - - - - - 357058 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357058 - Autosomal recessive cutis laxa type 2A - - Disease - - - - - - 2834 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2834 - Wrinkly skin syndrome - - Clinical subtype - - - - - - - - 357074 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357074 - Autosomal recessive cutis laxa type 2, classic type - - Clinical subtype - - - - - - - - - - 357064 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357064 - Autosomal recessive cutis laxa type 2B - - Disease - - - - - - - - - - 217335 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217335 - RIN2 syndrome - - Malformation syndrome - - - - - - - - 221145 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221145 - Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies - - Malformation syndrome - - - - - - - - 363705 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363705 - Craniofaciofrontodigital syndrome - - Disease - - - - - - - - 314718 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314718 - Lethal arteriopathy syndrome due to fibulin-4 deficiency - - Disease - - - - - - - - - - 2295 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2295 - Familial articular hypermobility syndrome - - Disease - - - - - - - - 758 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=758 - Pseudoxanthoma elasticum - - Disease - - - - - - - - 257 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=257 - Epidermolysis bullosa simplex with muscular dystrophy - - Disease - - - - - - - - 305 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=305 - Junctional epidermolysis bullosa - - Clinical group - - - - - - 2407 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2407 - Laryngo-onycho-cutaneous syndrome - - Disease - - - - - - - - 79403 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79403 - Junctional epidermolysis bullosa with pyloric atresia - - Disease - - - - - - - - 79404 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79404 - Severe generalized junctional epidermolysis bullosa - - Disease - - - - - - - - 79405 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79405 - Junctional epidermolysis bullosa inversa - - Disease - - - - - - - - 79406 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79406 - Late-onset junctional epidermolysis bullosa - - Disease - - - - - - - - 251393 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251393 - Localized junctional epidermolysis bullosa - - Disease - - - - - - - - 231556 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231556 - Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome - - Disease - - - - - - - - 306504 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306504 - Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome - - Disease - - - - - - - - 79402 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79402 - Intermediate generalized junctional epidermolysis bullosa - - Disease - - - - - - - - - - 303 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=303 - Dystrophic epidermolysis bullosa - - Clinical group - - - - - - 79408 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79408 - Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form - - Disease - - - - - - - - 79409 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79409 - Recessive dystrophic epidermolysis bullosa inversa - - Disease - - - - - - - - 595356 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=595356 - Localized dystrophic epidermolysis bullosa - - Disease - - - - - - 79410 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79410 - Localized dystrophic epidermolysis bullosa, pretibial form - - Clinical subtype - - - - - - - - 158673 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158673 - Localized dystrophic epidermolysis bullosa, acral form - - Clinical subtype - - - - - - - - 158676 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158676 - Localized dystrophic epidermolysis bullosa, nails only - - Clinical subtype - - - - - - - - - - 79411 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79411 - Self-improving dystrophic epidermolysis bullosa - - Disease - - - - - - - - 89842 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=89842 - Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form - - Disease - - - - - - - - 89843 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=89843 - Dystrophic epidermolysis bullosa pruriginosa - - Disease - - - - - - - - 231568 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231568 - Autosomal dominant generalized dystrophic epidermolysis bullosa - - Disease - - - - - - - - - - 530 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=530 - Lipoid proteinosis - - Malformation syndrome - - - - - - - - 33445 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33445 - Neuroectodermal melanolysosomal disease - - Malformation syndrome - - - - - - - - 79143 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79143 - Isolated congenital anonychia - - Disease - - - - - - 90390 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90390 - Anonychia-onychodystrophy syndrome - - Clinical subtype - - - - - - - - 94150 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94150 - Anonychia congenita totalis - - Clinical subtype - - - - - - - - - - 79373 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79373 - Ectodermal dysplasia syndrome - - Category - - - - - - 3200 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3200 - Arthrogryposis-ectodermal dysplasia syndrome - - Malformation syndrome - - - - - - - - 289 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289 - Ellis Van Creveld syndrome - - Malformation syndrome - - - - - - - - 464 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464 - Incontinentia pigmenti - - Malformation syndrome - - - - - - - - 235 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=235 - Dubowitz syndrome - - Malformation syndrome - - - - - - - - 1775 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1775 - Dyskeratosis congenita - - Disease - - - - - - - - 477 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477 - KID syndrome - - Disease - - - - - - - - 560 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=560 - Marshall syndrome - - Malformation syndrome - - - - - - - - 189 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=189 - Hidrotic ectodermal dysplasia - - Disease - - - - - - - - 1946 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1946 - Amelocerebrohypohidrotic syndrome - - Malformation syndrome - - - - - - - - 952 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=952 - Acrofacial dysostosis, Weyers type - - Malformation syndrome - - - - - - - - 1005 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1005 - Alopecia-contractures-dwarfism-intellectual disability syndrome - - Malformation syndrome - - - - - - - - 1010 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1010 - Autosomal dominant palmoplantar keratoderma and congenital alopecia - - Disease - - - - - - - - 1028 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1028 - Amelo-onycho-hypohidrotic syndrome - - Malformation syndrome - - - - - - - - 1071 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1071 - Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome - - Malformation syndrome - - - - - - 1072 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1072 - Ankyloblepharon filiforme adnatum-cleft palate syndrome - - Clinical subtype - - - - - - - - 1074 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1074 - Ankyloblepharon filiforme adnatum-imperforate anus syndrome - - Clinical subtype - - - - - - - - - - 1133 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1133 - AREDYLD syndrome - - Malformation syndrome - - - - - - - - 1174 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1174 - Cerebellar ataxia-ectodermal dysplasia syndrome - - Malformation syndrome - - - - - - - - 1234 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1234 - Bartsocas-Papas syndrome - - Malformation syndrome - - - - - - - - 1262 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1262 - Böök syndrome - - Malformation syndrome - - - - - - - - 1264 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1264 - Tricho-retino-dento-digital syndrome - - Malformation syndrome - - - - - - - - 1340 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1340 - Cardiofaciocutaneous syndrome - - Malformation syndrome - - - - - - - - 1366 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1366 - Autosomal recessive palmoplantar keratoderma and congenital alopecia - - Disease - - - - - - - - 1375 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1375 - Cataract-hypertrichosis-intellectual disability syndrome - - Malformation syndrome - - - - - - - - 1433 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1433 - Choroidal atrophy-alopecia syndrome - - Malformation syndrome - - - - - - - - 1484 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1484 - Contractures-ectodermal dysplasia-cleft lip/palate syndrome - - Malformation syndrome - - - - - - - - 1515 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1515 - Cranioectodermal dysplasia - - Malformation syndrome - - - - - - - - 1563 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1563 - Dahlberg-Borer-Newcomer syndrome - - Malformation syndrome - - - - - - - - 1573 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1573 - Hypotrichosis with juvenile macular degeneration - - Malformation syndrome - - - - - - - - 1657 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1657 - Dermatoosteolysis, Kirghizian type - - Malformation syndrome - - - - - - - - 1660 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1660 - Dermoodontodysplasia - - Malformation syndrome - - - - - - - - 1231 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1231 - Barber-Say syndrome - - Malformation syndrome - - - - - - - - 2251 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2251 - Thumb deformity-alopecia-pigmentation anomaly syndrome - - Malformation syndrome - - - - - - - - 1806 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1806 - Ectodermal dysplasia-blindness syndrome - - Malformation syndrome - - - - - - - - 1808 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1808 - Hidrotic ectodermal dysplasia, Christianson-Fourie type - - Malformation syndrome - - - - - - - - 1809 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1809 - Hidrotic ectodermal dysplasia, Halal type - - Malformation syndrome - - - - - - - - 1812 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1812 - Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome - - Malformation syndrome - - - - - - - - 1882 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1882 - Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome - - Malformation syndrome - - - - - - - - 1883 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1883 - Ectodermal dysplasia-sensorineural deafness syndrome - - Malformation syndrome - - - - - - - - 1816 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1816 - Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome - - Malformation syndrome - - - - - - - - 1818 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1818 - Ectodermal dysplasia, trichoodontoonychial type - - Malformation syndrome - - - - - - - - 1897 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1897 - EEM syndrome - - Malformation syndrome - - - - - - - - 1997 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1997 - Blepharo-cheilo-odontic syndrome - - Malformation syndrome - - - - - - - - 2026 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2026 - Gingival fibromatosis-hypertrichosis syndrome - - Malformation syndrome - - - - - - - - 2036 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2036 - Scalp-ear-nipple syndrome - - Malformation syndrome - - - - - - - - 2067 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2067 - GAPO syndrome - - Malformation syndrome - - - - - - - - 2092 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2092 - Focal dermal hypoplasia - - Malformation syndrome - - - - - - - - 2108 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2108 - Hallermann-Streiff syndrome - - Malformation syndrome - - - - - - - - 2220 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2220 - Hypertrichosis cubiti - - Malformation syndrome - - - - - - - - 2222 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2222 - Hypertrichosis lanuginosa congenita - - Disease - - - - - - 1023 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1023 - Congenital generalized hypertrichosis, Ambras type - - Clinical subtype - - - - - - - - 79495 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79495 - X-linked congenital generalized hypertrichosis - - Clinical subtype - - - - - - - - - - 2228 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2228 - Hypodontia-dysplasia of nails syndrome - - Malformation syndrome - - - - - - - - 2269 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2269 - Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome - - Disease - - - - - - - - 2315 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2315 - Johanson-Blizzard syndrome - - Malformation syndrome - - - - - - - - 2316 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2316 - Johnson neuroectodermal syndrome - - Malformation syndrome - - - - - - - - 2561 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2561 - Pyramidal molars-abnormal upper lip syndrome - - Malformation syndrome - - - - - - - - 2710 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2710 - Oculodentodigital dysplasia - - Malformation syndrome - - - - - - - - 2713 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2713 - Oculoosteocutaneous syndrome - - Malformation syndrome - - - - - - - - 2718 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2718 - Oculotrichodysplasia - - Malformation syndrome - - - - - - - - 2721 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2721 - Odonto-onycho-dermal dysplasia - - Disease - - - - - - - - 2722 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2722 - Odonto-onycho dysplasia-alopecia syndrome - - Malformation syndrome - - - - - - - - 2723 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2723 - Odontotrichomelic syndrome - - Malformation syndrome - - - - - - - - 2750 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2750 - Orofaciodigital syndrome type 1 - - Malformation syndrome - - - - - - - - 678 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=678 - Papillon-Lefèvre syndrome - - Disease - - - - - - - - 2890 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2890 - Pili torti-onychodysplasia syndrome - - Malformation syndrome - - - - - - - - 2892 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2892 - Pilodental dysplasia-refractive errors syndrome - - Malformation syndrome - - - - - - - - 3194 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3194 - Corneodermatoosseous syndrome - - Malformation syndrome - - - - - - - - 3220 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3220 - Deafness-enamel hypoplasia-nail defects syndrome - - Malformation syndrome - - - - - - - - 3231 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3231 - Deafness-onychodystrophy syndrome - - Clinical group - - - - - - 79499 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79499 - Autosomal dominant deafness-onychodystrophy syndrome - - Malformation syndrome - - - - - - - - 79500 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79500 - DOORS syndrome - - Malformation syndrome - - - - - - - - - - 3236 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3236 - Conductive deafness-ptosis-skeletal anomalies syndrome - - Malformation syndrome - - - - - - - - 3291 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3291 - Teebi-Shaltout syndrome - - Malformation syndrome - - - - - - - - 3339 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3339 - Oculoectodermal syndrome - - Malformation syndrome - - - - - - - - 3351 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3351 - Trichodental syndrome - - Malformation syndrome - - - - - - - - 3352 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3352 - Tricho-dento-osseous syndrome - - Malformation syndrome - - - - - - - - 3353 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3353 - Trichodermodysplasia-dental alterations syndrome - - Malformation syndrome - - - - - - - - 3355 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3355 - Trichoodontoonychial dysplasia - - Malformation syndrome - - - - - - - - 3363 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3363 - Trichomegaly-retina pigmentary degeneration-dwarfism syndrome - - Malformation syndrome - - - - - - - - 3474 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3474 - CHIME syndrome - - Malformation syndrome - - - - - - - - 175 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=175 - Cartilage-hair hypoplasia - - Disease - - - - - - - - 33364 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33364 - Trichothiodystrophy - - Disease - - - - - - - - 50944 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50944 - Schöpf-Schulz-Passarge syndrome - - Disease - - - - - - - - 65282 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65282 - Carvajal syndrome - - Disease - - - - - - - - 69082 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69082 - Odonto-tricho-ungual-digito-palmar syndrome - - Malformation syndrome - - - - - - - - 69083 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69083 - Ectodermal dysplasia with natal teeth, Turnpenny type - - Malformation syndrome - - - - - - - - 69084 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69084 - Pure hair and nail ectodermal dysplasia - - Malformation syndrome - - - - - - - - 69087 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69087 - Naegeli-Franceschetti-Jadassohn syndrome - - Disease - - - - - - - - 69088 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69088 - Hypohidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome - - Disease - - - - - - - - 69125 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69125 - Anonychia with flexural pigmentation - - Malformation syndrome - - - - - - - - 79129 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79129 - Trichodysplasia-amelogenesis imperfecta syndrome - - Malformation syndrome - - - - - - - - 86920 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86920 - Dermatopathia pigmentosa reticularis - - Disease - - - - - - - - 98609 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98609 - EEC syndrome and related disorders - - Category - - - - - - 978 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=978 - ADULT syndrome - - Malformation syndrome - - - - - - - - 1896 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1896 - EEC syndrome - - Malformation syndrome - - - - - - - - 2363 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2363 - Lacrimoauriculodentodigital syndrome - - Malformation syndrome - - - - - - - - 69085 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69085 - Limb-mammary syndrome - - Malformation syndrome - - - - - - - - - - 99672 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99672 - Fried's tooth and nail syndrome - - Malformation syndrome - - - - - - - - 99688 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99688 - Dermotrichic syndrome - - Malformation syndrome - - - - - - - - 140936 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140936 - Lelis syndrome - - Malformation syndrome - - - - - - - - 158668 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=158668 - Ectodermal dysplasia-skin fragility syndrome - - Disease - - - - - - - - 238468 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238468 - Hypohidrotic ectodermal dysplasia - - Disease - - - - - - 181 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=181 - X-linked hypohidrotic ectodermal dysplasia - - Etiological subtype - - - - - - - - 248 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=248 - Autosomal recessive hypohidrotic ectodermal dysplasia - - Etiological subtype - - - - - - - - 1810 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1810 - Autosomal dominant hypohidrotic ectodermal dysplasia - - Etiological subtype - - - - - - - - - - 247820 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247820 - Ectodermal dysplasia-pili torti-cutaneous syndactyly syndrome - - Malformation syndrome - - - - - - - - 247827 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247827 - Ectodermal dysplasia-hyperhidrosis-cutaneous syndactyly syndrome - - Malformation syndrome - - - - - - - - 307766 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=307766 - Curly hair-acral keratoderma-caries syndrome - - Disease - - - - - - - - 307936 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=307936 - Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome - - Disease - - - - - - - - 319195 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319195 - Chondroectodermal dysplasia with night blindness - - Disease - - - - - - - - 3253 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3253 - Cleft lip/palate-ectodermal dysplasia syndrome - - Malformation syndrome - - - - - - - - 324764 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324764 - Trichorhinophalangeal syndrome - - Clinical group - - - - - - 502 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=502 - Trichorhinophalangeal syndrome type 2 - - Malformation syndrome - - - - - - - - 77258 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77258 - Trichorhinophalangeal syndrome type 1 - - Malformation syndrome - - - - - - - - - - 398166 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398166 - Focal facial dermal dysplasia - - Malformation syndrome - - - - - - 1807 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1807 - Focal facial dermal dysplasia type III - - Clinical subtype - - - - - - - - 79133 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79133 - Focal facial dermal dysplasia type I - - Clinical subtype - - - - - - - - 398173 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398173 - Focal facial dermal dysplasia type II - - Clinical subtype - - - - - - - - 398189 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398189 - Focal facial dermal dysplasia type IV - - Clinical subtype - - - - - - - - - - 423454 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423454 - Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome - - Disease - - - - - - - - 1401 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1401 - CHAND syndrome - - Malformation syndrome - - - - - - - - 2109 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2109 - Hallermann-Streiff-like syndrome - - Malformation syndrome - - - - - - - - 293165 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293165 - Skin fragility-woolly hair-palmoplantar keratoderma syndrome - - Disease - - - - - - - - 2266 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2266 - Hypotrichosis-intellectual disability, Lopes type - - Disease - - - - - - - - 447961 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447961 - Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome - - Disease - - - - - - - - 685067 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=685067 - Hypodontia-scalp hypotrichosis-facial dysmorphism syndrome - - Disease - - - - - - - - 589608 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589608 - Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies - - Disease - - - - - - - - 98813 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98813 - Hypohidrotic ectodermal dysplasia with immunodeficiency - - Disease - - - - - - - - - - 98249 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98249 - Ehlers-Danlos syndrome - - Clinical group - - - - - - 287 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=287 - Classical Ehlers-Danlos syndrome - - Disease - - - - - - - - 2953 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2953 - Musculocontractural Ehlers-Danlos syndrome - - Disease - - - - - - - - 285 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=285 - Hypermobile Ehlers-Danlos syndrome - - Disease - - - - - - - - 286 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=286 - Vascular Ehlers-Danlos syndrome - - Disease - - - - - - - - 536545 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=536545 - Kyphoscoliotic Ehlers-Danlos syndrome - - Disease - - - - - - 1900 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1900 - Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency - - Clinical subtype - - - - - - - - 300179 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300179 - Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency - - Clinical subtype - - - - - - - - - - 1899 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1899 - Arthrochalasia Ehlers-Danlos syndrome - - Disease - - - - - - - - 1901 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1901 - Dermatosparaxis Ehlers-Danlos syndrome - - Disease - - - - - - - - 75392 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75392 - Periodontal Ehlers-Danlos syndrome - - Disease - - - - - - - - 536471 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=536471 - Spondylodysplastic Ehlers-Danlos syndrome - - Disease - - - - - - 75496 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75496 - B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome - - Clinical subtype - - - - - - - - 536467 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=536467 - B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome - - Clinical subtype - - - - - - - - 157965 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157965 - SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome - - Clinical subtype - - - - - - - - - - 75497 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75497 - X-linked Ehlers-Danlos syndrome - - Disease - - - - - - - - 90354 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90354 - Brittle cornea syndrome - - Disease - - - - - - - - 536516 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=536516 - Myopathic Ehlers-Danlos syndrome - - Disease - - - - - - - - 230839 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=230839 - Classical-like Ehlers-Danlos syndrome type 1 - - Disease - - - - - - - - 230851 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=230851 - Cardiac-valvular Ehlers-Danlos syndrome - - Disease - - - - - - - - 536532 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=536532 - Classical-like Ehlers-Danlos syndrome type 2 - - Disease - - - - - - - - 636941 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=636941 - Vascular Ehlers-Danlos-polymicrogyria syndrome - - Disease - - - - - - - - - - 220295 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220295 - Xeroderma pigmentosum-Cockayne syndrome complex - - Disease - - - - - - - - 289465 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289465 - Isolated congenital adermatoglyphia - - Disease - - - - - - - - 352712 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352712 - Facial dysmorphism-immunodeficiency-livedo-short stature syndrome - - Disease - - - - - - - - 363992 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363992 - Ichthyosis-short stature-brachydactyly-microspherophakia syndrome - - Disease - - - - - - - - 438134 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=438134 - PCNA-related progressive neurodegenerative photosensitivity syndrome - - Disease - - - - - - - - 90342 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90342 - Xeroderma pigmentosum variant - - Disease - - - - - - - - - - 139030 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139030 - Rare developmental defect with connective tissue involvement - - Category - - - - - - 230857 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=230857 - Ehlers-Danlos/osteogenesis imperfecta syndrome - - Disease - - - - - - - - 558 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=558 - Marfan syndrome - - Disease - - - - - - 284963 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284963 - Marfan syndrome type 1 - - Clinical subtype - - - - - - - - 284973 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284973 - Marfan syndrome type 2 - - Clinical subtype - - - - - - - - - - 1425 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1425 - Desbuquois syndrome - - Malformation syndrome - - - - - - - - 2371 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2371 - Lethal Larsen-like syndrome - - Malformation syndrome - - - - - - - - 209 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209 - Cutis laxa - - Clinical group - - - - - - 2078 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2078 - Geroderma osteodysplastica - - Malformation syndrome - - - - - - - - 2962 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2962 - De Barsy syndrome - - Disease - - - - - - 35664 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35664 - ALDH18A1-related De Barsy syndrome - - Etiological subtype - - - - - - - - 293633 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293633 - PYCR1-related De Barsy syndrome - - Etiological subtype - - - - - - - - - - 3134 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3134 - SCARF syndrome - - Malformation syndrome - - - - - - - - 3342 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3342 - Arterial tortuosity syndrome - - Malformation syndrome - - - - - - - - 198 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=198 - Occipital horn syndrome - - Disease - - - - - - - - 90348 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90348 - Autosomal dominant cutis laxa - - Disease - - - - - - - - 90349 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90349 - Autosomal recessive cutis laxa type 1 - - Disease - - - - - - - - 90350 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90350 - Autosomal recessive cutis laxa type 2 - - Clinical group - - - - - - 357058 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357058 - Autosomal recessive cutis laxa type 2A - - Disease - - - - - - 2834 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2834 - Wrinkly skin syndrome - - Clinical subtype - - - - - - - - 357074 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357074 - Autosomal recessive cutis laxa type 2, classic type - - Clinical subtype - - - - - - - - - - 357064 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357064 - Autosomal recessive cutis laxa type 2B - - Disease - - - - - - - - - - 217335 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217335 - RIN2 syndrome - - Malformation syndrome - - - - - - - - 221145 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221145 - Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies - - Malformation syndrome - - - - - - - - 363705 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363705 - Craniofaciofrontodigital syndrome - - Disease - - - - - - - - 314718 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314718 - Lethal arteriopathy syndrome due to fibulin-4 deficiency - - Disease - - - - - - - - - - 503 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=503 - Larsen syndrome - - Malformation syndrome - - - - - - - - 758 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=758 - Pseudoxanthoma elasticum - - Disease - - - - - - - - 79094 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79094 - Grange syndrome - - Malformation syndrome - - - - - - - - 85174 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85174 - Pseudodiastrophic dysplasia - - Malformation syndrome - - - - - - - - 98249 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98249 - Ehlers-Danlos syndrome - - Clinical group - - - - - - 287 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=287 - Classical Ehlers-Danlos syndrome - - Disease - - - - - - - - 2953 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2953 - Musculocontractural Ehlers-Danlos syndrome - - Disease - - - - - - - - 285 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=285 - Hypermobile Ehlers-Danlos syndrome - - Disease - - - - - - - - 286 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=286 - Vascular Ehlers-Danlos syndrome - - Disease - - - - - - - - 536545 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=536545 - Kyphoscoliotic Ehlers-Danlos syndrome - - Disease - - - - - - 1900 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1900 - Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency - - Clinical subtype - - - - - - - - 300179 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300179 - Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency - - Clinical subtype - - - - - - - - - - 1899 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1899 - Arthrochalasia Ehlers-Danlos syndrome - - Disease - - - - - - - - 1901 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1901 - Dermatosparaxis Ehlers-Danlos syndrome - - Disease - - - - - - - - 75392 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75392 - Periodontal Ehlers-Danlos syndrome - - Disease - - - - - - - - 536471 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=536471 - Spondylodysplastic Ehlers-Danlos syndrome - - Disease - - - - - - 75496 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75496 - B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome - - Clinical subtype - - - - - - - - 536467 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=536467 - B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome - - Clinical subtype - - - - - - - - 157965 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157965 - SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome - - Clinical subtype - - - - - - - - - - 75497 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75497 - X-linked Ehlers-Danlos syndrome - - Disease - - - - - - - - 90354 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90354 - Brittle cornea syndrome - - Disease - - - - - - - - 536516 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=536516 - Myopathic Ehlers-Danlos syndrome - - Disease - - - - - - - - 230839 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=230839 - Classical-like Ehlers-Danlos syndrome type 1 - - Disease - - - - - - - - 230851 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=230851 - Cardiac-valvular Ehlers-Danlos syndrome - - Disease - - - - - - - - 536532 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=536532 - Classical-like Ehlers-Danlos syndrome type 2 - - Disease - - - - - - - - 636941 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=636941 - Vascular Ehlers-Danlos-polymicrogyria syndrome - - Disease - - - - - - - - - - 171719 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171719 - Cutis laxa-Marfanoid syndrome - - Malformation syndrome - - - - - - - - 171844 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171844 - Blindness-scoliosis-arachnodactyly syndrome - - Malformation syndrome - - - - - - - - 228410 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228410 - Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome - - Malformation syndrome - - - - - - 664404 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=664404 - 6q25.1 microdeletion syndrome - - Etiological subtype - - - - - - - - 664401 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=664401 - Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome due to TAB2 mutation - - Etiological subtype - - - - - - - - - - 284139 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284139 - Larsen-like syndrome, B3GAT3 type - - Malformation syndrome - - - - - - - - 300284 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300284 - Connective tissue disorder due to lysyl hydroxylase-3 deficiency - - Disease - - - - - - - - 314041 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314041 - Marfanoid habitus-inguinal hernia-advanced bone age syndrome - - Malformation syndrome - - - - - - - - 697101 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=697101 - Fontaine progeroid syndrome - - Disease - - - - - - 2963 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2963 - Progeroid syndrome, Petty type - - Clinical subtype - - - - - - - - 2095 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2095 - Gorlin-Chaudhry-Moss syndrome - - Clinical subtype - - - - - - - - - - 527450 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=527450 - Severe myopia-generalized joint laxity-short stature syndrome - - Malformation syndrome - - - - - - - - 2295 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2295 - Familial articular hypermobility syndrome - - Disease - - - - - - - - - - 183506 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183506 - Genetic central nervous system malformation - - Category - - - - - - 269550 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269550 - Genetic non-syndromic central nervous system malformation - - Category - - - - - - 2185 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2185 - Congenital hydrocephalus - - Malformation syndrome - - - - - - 269505 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269505 - Congenital communicating hydrocephalus - - Clinical subtype - - - - - - - - 269510 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269510 - Congenital non-communicating hydrocephalus - - Clinical subtype - - - - - - - - - - 3388 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3388 - Neural tube defect - - Category - - - - - - 268357 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268357 - Neural tube closure defect - - Category - - - - - - 823 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=823 - Spina bifida and other spinal dysraphisms - - Category - - - - - - 268369 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268369 - Open spinal dysraphism - - Clinical group - - - - - - 645270 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645270 - Open spinal dysraphism with a posterior meningocele - - Clinical group - - - - - - 645378 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645378 - Myelic limited dorsal malformation - - Morphological anomaly - - - - - - - - 93969 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93969 - Open spinal dysraphism with a myelomeningocele - - Morphological anomaly - - - - - - 645383 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645383 - True myelomeningocele - - Clinical subtype - - - - - - - - 645388 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645388 - Hemi-myelomeningocele - - Clinical subtype - - - - - - - - - - - - 645398 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645398 - Myeloschisis - - Morphological anomaly - - - - - - 645401 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645401 - True myeloschisis - - Clinical subtype - - - - - - - - 645393 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645393 - Hemi-myeloschisis - - Clinical subtype - - - - - - - - - - - - 268744 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268744 - Spinal dysraphism with a posterior meningocele - - Clinical group - - - - - - 268810 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268810 - Isolated posterior meningocele - - Morphological anomaly - - - - - - - - 268813 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268813 - Myelocystocele - - Clinical group - - - - - - 645337 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645337 - Terminal myelocystocele - - Morphological anomaly - - - - - - - - 645340 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645340 - Non-terminal myelocystocele - - Morphological anomaly - - - - - - - - - - 645319 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645319 - Saccular spinal dysraphism with a stalk to the dome - - Clinical group - - - - - - 645354 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645354 - Saccular limited dorsal myeloschisis - - Morphological anomaly - - - - - - - - 645378 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645378 - Myelic limited dorsal malformation - - Morphological anomaly - - - - - - - - 645337 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645337 - Terminal myelocystocele - - Morphological anomaly - - - - - - - - - - 645270 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645270 - Open spinal dysraphism with a posterior meningocele - - Clinical group - - - - - - 645378 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645378 - Myelic limited dorsal malformation - - Morphological anomaly - - - - - - - - 93969 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93969 - Open spinal dysraphism with a myelomeningocele - - Morphological anomaly - - - - - - 645383 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645383 - True myelomeningocele - - Clinical subtype - - - - - - - - 645388 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645388 - Hemi-myelomeningocele - - Clinical subtype - - - - - - - - - - - - - - 645202 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645202 - Closed spinal dysraphism - - Clinical group - - - - - - 573278 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=573278 - Split cord malformation - - Clinical group - - - - - - 1671 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1671 - Split cord malformation type I - - Morphological anomaly - - - - - - - - 573253 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=573253 - Split cord malformation type II - - Morphological anomaly - - - - - - - - 633076 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=633076 - Split cord malformation, composite type - - Morphological anomaly - - - - - - - - - - 268810 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268810 - Isolated posterior meningocele - - Morphological anomaly - - - - - - - - 268813 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268813 - Myelocystocele - - Clinical group - - - - - - 645337 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645337 - Terminal myelocystocele - - Morphological anomaly - - - - - - - - 645340 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645340 - Non-terminal myelocystocele - - Morphological anomaly - - - - - - - - - - 656126 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=656126 - Segmental spinal dysgenesis - - Disease - - - - - - - - 645273 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645273 - Dysraphic spinal cord lipoma - - Clinical group - - - - - - 645362 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645362 - Dorsal spinal cord lipoma - - Morphological anomaly - - - - - - - - 645367 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645367 - Conus spinal cord lipoma - - Clinical group - - - - - - 645285 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645285 - Chaotic conus spinal cord lipoma - - Morphological anomaly - - - - - - - - 645297 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645297 - Extramedullary conus spinal cord lipoma - - Morphological anomaly - - - - - - 645291 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645291 - Transitional extramedullary conus spinal cord lipoma - - Clinical subtype - - - - - - - - 645288 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645288 - Terminal extramedullary conus spinal cord lipoma - - Clinical subtype - - - - - - - - 645294 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645294 - Posterior extramedullary conus spinal cord lipoma - - Clinical subtype - - - - - - - - - - - - - - 3027 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3027 - Caudal regression syndrome - - Malformation syndrome - - - - - - - - 645193 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645193 - Dysraphism with stalk - - Clinical group - - - - - - 645334 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645334 - Retained medullary cord - - Morphological anomaly - - - - - - - - 645188 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645188 - Spinal dermal sinus - - Morphological anomaly - - - - - - - - 645196 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645196 - Limited dorsal myeloschisis - - Clinical group - - - - - - 645343 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645343 - Non-saccular limited dorsal myeloschisis - - Morphological anomaly - - - - - - 645310 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645310 - Fibroneural non-saccular limited dorsal myeloschisis - - Histopathological subtype - - - - - - - - 645300 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645300 - Lipomatous non-saccular limited dorsal myeloschisis - - Histopathological subtype - - - - - - - - - - 645319 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645319 - Saccular spinal dysraphism with a stalk to the dome - - Clinical group - - - - - - 645354 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645354 - Saccular limited dorsal myeloschisis - - Morphological anomaly - - - - - - - - 645378 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645378 - Myelic limited dorsal malformation - - Morphological anomaly - - - - - - - - 645337 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645337 - Terminal myelocystocele - - Morphological anomaly - - - - - - - - - - - - - - - - - - 645282 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645282 - Anomaly of the filum - - Clinical group - - - - - - 645279 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645279 - Fibrolipomatous filum anomaly - - Clinical group - - - - - - 645325 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645325 - Isolated filum lipoma - - Morphological anomaly - - - - - - - - 645322 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645322 - Isolated transitional filum lipoma - - Morphological anomaly - - - - - - - - - - 645334 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645334 - Retained medullary cord - - Morphological anomaly - - - - - - - - - - 645276 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645276 - Spinal cord lipoma - - Clinical group - - - - - - 645359 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645359 - Intramedullary non-dysraphic spinal cord lipoma - - Morphological anomaly - - - - - - - - 645273 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645273 - Dysraphic spinal cord lipoma - - Clinical group - - - - - - 645362 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645362 - Dorsal spinal cord lipoma - - Morphological anomaly - - - - - - - - 645367 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645367 - Conus spinal cord lipoma - - Clinical group - - - - - - 645285 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645285 - Chaotic conus spinal cord lipoma - - Morphological anomaly - - - - - - - - 645297 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645297 - Extramedullary conus spinal cord lipoma - - Morphological anomaly - - - - - - 645291 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645291 - Transitional extramedullary conus spinal cord lipoma - - Clinical subtype - - - - - - - - 645288 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645288 - Terminal extramedullary conus spinal cord lipoma - - Clinical subtype - - - - - - - - 645294 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645294 - Posterior extramedullary conus spinal cord lipoma - - Clinical subtype - - - - - - - - - - - - - - - - - - 268843 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268843 - Malformation of the neurenteric canal, spinal cord and column - - Category - - - - - - 63260 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=63260 - Craniorachischisis - - Morphological anomaly - - - - - - - - 1048 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1048 - Isolated anencephaly/exencephaly - - Morphological anomaly - - - - - - 563609 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=563609 - Isolated anencephaly - - Clinical subtype - - - - - - - - 563612 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=563612 - Isolated exencephaly - - Clinical subtype - - - - - - - - - - 63259 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=63259 - Iniencephaly - - Morphological anomaly - - - - - - 268363 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268363 - Open iniencephaly - - Clinical subtype - - - - - - - - 268366 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268366 - Closed iniencephaly - - Clinical subtype - - - - - - - - - - 268817 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268817 - Cephalocele - - Clinical group - - - - - - 199647 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199647 - Isolated encephalocele - - Morphological anomaly - - - - - - 268826 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268826 - Parietal encephalocele - - Clinical subtype - - - - - - - - 268829 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268829 - Basal encephalocele - - Clinical subtype - - - - - - - - 1931 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1931 - Frontal encephalocele - - Clinical subtype - - - - - - - - 141118 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141118 - Nasal encephalocele - - Clinical subtype - - - - - - - - 268823 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268823 - Occipital encephalocele - - Clinical subtype - - - - - - - - - - 268820 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268820 - Cranial meningocele - - Morphological anomaly - - - - - - - - - - 656126 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=656126 - Segmental spinal dysgenesis - - Disease - - - - - - - - 3027 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3027 - Caudal regression syndrome - - Malformation syndrome - - - - - - - - 2789 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2789 - Lateral meningocele syndrome - - Malformation syndrome - - - - - - - - 99856 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99856 - Primary syringomyelia - - Morphological anomaly - - - - - - 99858 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99858 - Idiopathic syringomyelia - - Clinical subtype - - - - - - - - 370034 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370034 - Familial syringomyelia - - Clinical subtype - - - - - - - - - - 268861 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268861 - Primary tethered cord syndrome - - Morphological anomaly - - - - - - - - 268865 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268865 - Neurenteric cyst - - Morphological anomaly - - - - - - - - 268868 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268868 - Isolated amyelia - - Morphological anomaly - - - - - - - - 268882 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268882 - Arnold-Chiari malformation type I - - Morphological anomaly - - - - - - - - 397927 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397927 - Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome - - Malformation syndrome - - - - - - - - - - - - 2356 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2356 - Arachnoid cyst - - Morphological anomaly - - - - - - - - 98518 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98518 - Cranial nerve and nuclear aplasia - - Category - - - - - - 570 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=570 - Moebius syndrome - - Disease - - - - - - - - 233 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=233 - Duane retraction syndrome - - Malformation syndrome - - - - - - - - 306527 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306527 - Isolated hereditary congenital facial paralysis - - Morphological anomaly - - - - - - - - 306530 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306530 - Congenital hereditary facial paralysis-variable hearing loss syndrome - - Morphological anomaly - - - - - - - - 324353 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324353 - Congenital achiasma - - Morphological anomaly - - - - - - - - - - 269553 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269553 - Genetic cerebral malformation - - Category - - - - - - 268926 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268926 - Midline cerebral malformation - - Category - - - - - - 2162 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2162 - Holoprosencephaly - - Malformation syndrome - - - - - - 93924 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93924 - Lobar holoprosencephaly - - Clinical subtype - - - - - - - - 93925 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93925 - Alobar holoprosencephaly - - Clinical subtype - - - - - - - - 93926 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93926 - Midline interhemispheric variant of holoprosencephaly - - Clinical subtype - - - - - - - - 220386 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220386 - Semilobar holoprosencephaly - - Clinical subtype - - - - - - - - 280195 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280195 - Septopreoptic holoprosencephaly - - Clinical subtype - - - - - - - - - - 1126 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1126 - Aprosencephaly cerebellar dysgenesis - - Malformation syndrome - - - - - - - - 314621 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314621 - Duplication of the pituitary gland - - Morphological anomaly - - - - - - - - 280200 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280200 - Microform holoprosencephaly - - Malformation syndrome - - - - - - - - - - 269190 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269190 - Encephaloclastic disorder - - Clinical group - - - - - - 799 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=799 - Schizencephaly - - Disease - - - - - - 481986 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=481986 - Familial schizencephaly - - Etiological subtype - - - - - - - - 485275 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=485275 - Acquired schizencephaly - - Etiological subtype - - - - - - - - - - 2177 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2177 - Hydranencephaly - - Malformation syndrome - - - - - - - - 2940 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2940 - Porencephaly - - Disease - - - - - - 99810 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99810 - Familial porencephaly - - Etiological subtype - - - - - - - - 314697 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314697 - Acquired porencephaly - - Etiological subtype - - - - - - - - - - - - 319192 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319192 - Diencephalic-mesencephalic junction dysplasia - - Morphological anomaly - - - - - - - - 163209 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163209 - Non-syndromic cerebral malformation due to abnormal neuronal migration - - Category - - - - - - 2149 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2149 - Nodular neuronal heterotopia - - Morphological anomaly - - - - - - 98892 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98892 - Periventricular nodular heterotopia - - Clinical subtype - - - - - - - - 101029 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101029 - Sub-cortical nodular heterotopia - - Clinical subtype - - - - - - - - 101030 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101030 - Subependymal nodular heterotopia - - Clinical subtype - - - - - - - - - - 35981 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35981 - Polymicrogyria - - Clinical group - - - - - - 268940 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268940 - Bilateral polymicrogyria - - Morphological anomaly - - - - - - 98889 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98889 - Bilateral perisylvian polymicrogyria - - Clinical subtype - - - - - - - - 101070 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101070 - Bilateral frontoparietal polymicrogyria - - Clinical subtype - - - - - - - - 208441 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=208441 - Bilateral parasagittal parieto-occipital polymicrogyria - - Clinical subtype - - - - - - - - 208444 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=208444 - Bilateral frontal polymicrogyria - - Clinical subtype - - - - - - - - 208447 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=208447 - Bilateral generalized polymicrogyria - - Clinical subtype - - - - - - - - - - 268943 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268943 - Unilateral polymicrogyria - - Morphological anomaly - - - - - - 101071 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101071 - Unilateral hemispheric polymicrogyria - - Clinical subtype - - - - - - - - 268947 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268947 - Unilateral focal polymicrogyria - - Clinical subtype - - - - - - - - - - - - 99796 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99796 - Subcortical band heterotopia - - Morphological anomaly - - - - - - - - 268950 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268950 - Cerebral cortical dysplasia - - Clinical group - - - - - - 65683 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65683 - Isolated focal cortical dysplasia - - Disease - - - - - - 268961 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268961 - Isolated focal cortical dysplasia type I - - Clinical subtype - - - - - - 268973 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268973 - Isolated focal cortical dysplasia type Ia - - Histopathological subtype - - - - - - - - 268980 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268980 - Isolated focal cortical dysplasia type Ib - - Histopathological subtype - - - - - - - - 268987 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268987 - Isolated focal cortical dysplasia type Ic - - Histopathological subtype - - - - - - - - - - 268994 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268994 - Isolated focal cortical dysplasia type II - - Clinical subtype - - - - - - 269001 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269001 - Isolated focal cortical dysplasia type IIa - - Histopathological subtype - - - - - - - - 269008 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269008 - Isolated focal cortical dysplasia type IIb - - Histopathological subtype - - - - - - - - - - - - - - 280640 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280640 - Occipital pachygyria and polymicrogyria - - Malformation syndrome - - - - - - - - 300570 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300570 - Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation - - Disease - - - - - - - - 329329 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329329 - Autosomal recessive frontotemporal pachygyria - - Malformation syndrome - - - - - - - - 2798 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2798 - Pachygyria-intellectual disability-epilepsy syndrome - - Malformation syndrome - - - - - - - - - - 199642 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199642 - Isolated congenital microcephaly - - Malformation syndrome - - - - - - 2512 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2512 - Autosomal recessive primary microcephaly - - Etiological subtype - - - - - - - - 2514 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2514 - Autosomal dominant primary microcephaly - - Etiological subtype - - - - - - - - - - 2477 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2477 - Isolated megalencephaly - - Malformation syndrome - - - - - - - - - - 269557 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269557 - Genetic posterior fossa malformation - - Category - - - - - - 98523 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98523 - Non-syndromic pontocerebellar hypoplasia - - Clinical group - - - - - - 2524 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2524 - Pontocerebellar hypoplasia type 2 - - Malformation syndrome - - - - - - - - 2254 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2254 - Pontocerebellar hypoplasia type 1 - - Malformation syndrome - - - - - - - - 97249 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97249 - Pontocerebellar hypoplasia type 3 - - Malformation syndrome - - - - - - - - 166063 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166063 - Pontocerebellar hypoplasia type 4 - - Malformation syndrome - - - - - - - - 166073 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166073 - Pontocerebellar hypoplasia type 6 - - Malformation syndrome - - - - - - - - 284339 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284339 - Pontocerebellar hypoplasia type 7 - - Malformation syndrome - - - - - - - - 324569 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324569 - Pontocerebellar hypoplasia type 8 - - Malformation syndrome - - - - - - - - 369920 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369920 - Pontocerebellar hypoplasia type 9 - - Malformation syndrome - - - - - - - - 411493 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411493 - Pontocerebellar hypoplasia type 10 - - Malformation syndrome - - - - - - - - 611256 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=611256 - Pontocerebellar hypoplasia type 12 - - Malformation syndrome - - - - - - - - 611247 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=611247 - Pontocerebellar hypoplasia type 11 - - Malformation syndrome - - - - - - - - 613267 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=613267 - Pontocerebellar hypoplasia type 13 - - Malformation syndrome - - - - - - - - 613274 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=613274 - Pontocerebellar hypoplasia type 14 - - Malformation syndrome - - - - - - - - - - 269560 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269560 - Genetic cerebellar malformation - - Category - - - - - - 475 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=475 - Isolated Joubert syndrome - - Malformation syndrome - - - - - - - - 1397 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1397 - Hydrocephaly-cerebellar agenesis syndrome - - Malformation syndrome - - - - - - - - - - 217 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217 - Isolated Dandy-Walker malformation - - Morphological anomaly - - - - - - 269212 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269212 - Isolated Dandy-Walker malformation with hydrocephalus - - Clinical subtype - - - - - - - - 269215 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269215 - Isolated Dandy-Walker malformation without hydrocephalus - - Clinical subtype - - - - - - - - - - - - 530033 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=530033 - Dermoid or epidermoid cyst of the central nervous system - - Morphological anomaly - - - - - - - - - - 269564 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269564 - Genetic syndrome with a central nervous system malformation as a major feature - - Category - - - - - - 556955 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=556955 - Pancreatic agenesis-holoprosencephaly syndrome - - Disease - - - - - - - - 544469 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=544469 - PRUNE1-related neurological syndrome - - Malformation syndrome - - - - - - - - 529574 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=529574 - Duane retraction syndrome with congenital deafness - - Malformation syndrome - - - - - - - - 564 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=564 - Meckel syndrome - - Malformation syndrome - - - - - - - - 2744 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2744 - Horizontal gaze palsy with progressive scoliosis - - Disease - - - - - - - - 2189 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2189 - Hydrolethalus - - Malformation syndrome - - - - - - - - 3157 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3157 - Septo-optic dysplasia spectrum - - Malformation syndrome - - - - - - - - 1768 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1768 - Familial caudal dysgenesis - - Malformation syndrome - - - - - - - - 48471 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=48471 - Lissencephaly - - Category - - - - - - 1083 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1083 - Microlissencephaly - - Morphological anomaly - - - - - - 89844 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=89844 - Lissencephaly syndrome, Norman-Roberts type - - Clinical subtype - - - - - - - - - - 51577 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=51577 - Cobblestone lissencephaly - - Clinical group - - - - - - 352682 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352682 - Cobblestone lissencephaly without muscular or ocular involvement - - Disease - - - - - - - - 352687 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352687 - Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies - - Clinical group - - - - - - 272 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=272 - Congenital muscular dystrophy, Fukuyama type - - Malformation syndrome - - - - - - - - 899 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=899 - Walker-Warburg syndrome - - Disease - - - - - - - - 588 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=588 - Muscle-eye-brain disease - - Malformation syndrome - - - - - - - - 370997 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370997 - Muscle-eye-brain disease with bilateral multicystic leucodystrophy - - Disease - - - - - - - - - - - - 86823 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86823 - Lissencephaly with cerebellar hypoplasia - - Clinical group - - - - - - 100011 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100011 - Lissencephaly with cerebellar hypoplasia type A - - Malformation syndrome - - - - - - - - 100012 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100012 - Lissencephaly with cerebellar hypoplasia type B - - Malformation syndrome - - - - - - - - 100013 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100013 - Lissencephaly with cerebellar hypoplasia type C - - Malformation syndrome - - - - - - - - 100014 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100014 - Lissencephaly with cerebellar hypoplasia type D - - Malformation syndrome - - - - - - - - 100015 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100015 - Lissencephaly with cerebellar hypoplasia type E - - Malformation syndrome - - - - - - - - 100016 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100016 - Lissencephaly with cerebellar hypoplasia type F - - Malformation syndrome - - - - - - - - - - 102009 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=102009 - Classic lissencephaly - - Clinical group - - - - - - 572013 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572013 - Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome - - Malformation syndrome - - - - - - - - 2148 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2148 - Lissencephaly type 1 due to doublecortin gene mutation - - Disease - - - - - - - - 531 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=531 - Miller-Dieker syndrome - - Malformation syndrome - - - - - - - - 1084 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1084 - Isolated lissencephaly type 1 without known genetic defects - - Disease - - - - - - - - 95232 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95232 - Lissencephaly due to LIS1 mutation - - Disease - - - - - - - - - - 102010 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=102010 - Other syndrome with lissencephaly as a major feature - - Category - - - - - - 1528 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1528 - Craniotelencephalic dysplasia - - Malformation syndrome - - - - - - - - 2510 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2510 - Micro syndrome - - Malformation syndrome - - - - - - - - 2995 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2995 - Baraitser-Winter cerebrofrontofacial syndrome - - Malformation syndrome - - - - - - - - 452 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=452 - X-linked lissencephaly with abnormal genitalia - - Malformation syndrome - - - - - - - - - - 102011 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=102011 - Lissencephaly type 3 - - Clinical group - - - - - - 2671 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2671 - Neu-Laxova syndrome - - Malformation syndrome - - - - - - 583602 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=583602 - Neu-Laxova syndrome due to phosphoserine aminotransferase deficiency - - Etiological subtype - - - - - - - - 583607 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=583607 - Neu-Laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency - - Etiological subtype - - - - - - - - 583612 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=583612 - Neu-Laxova syndrome due to 3-phosphoserine phosphatase deficiency - - Etiological subtype - - - - - - - - - - 86821 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86821 - Lissencephaly type 3-familial fetal akinesia sequence syndrome - - Malformation syndrome - - - - - - - - 86822 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86822 - Lissencephaly type 3-metacarpal bone dysplasia syndrome - - Malformation syndrome - - - - - - - - - - 171680 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171680 - Lissencephaly due to TUBA1A mutation - - Malformation syndrome - - - - - - - - - - 66625 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66625 - Cerebrooculonasal syndrome - - Malformation syndrome - - - - - - - - 210548 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210548 - Macrocephaly-intellectual disability-autism syndrome - - Disease - - - - - - - - 221126 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221126 - Fowler vasculopathy - - Malformation syndrome - - - - - - - - 247198 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247198 - Progressive cerebello-cerebral atrophy - - Disease - - - - - - - - 250972 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=250972 - Polymicrogyria with optic nerve hypoplasia - - Malformation syndrome - - - - - - - - 251383 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251383 - CK syndrome - - Malformation syndrome - - - - - - - - 269528 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269528 - Syndrome with microcephaly as a major feature - - Category - - - - - - 597743 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=597743 - SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome - - Malformation syndrome - - - - - - - - 572333 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572333 - Blepharophimosis-ptosis-epicanthus inversus syndrome plus - - Malformation syndrome - - - - - - - - 481152 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=481152 - PYCR2-related microcephaly-progressive leukoencephalopathy - - Malformation syndrome - - - - - - - - 2510 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2510 - Micro syndrome - - Malformation syndrome - - - - - - - - 3433 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3433 - Microcephaly-brachydactyly-kyphoscoliosis syndrome - - Malformation syndrome - - - - - - - - 1270 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1270 - Bowen-Conradi syndrome - - Malformation syndrome - - - - - - - - 2515 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2515 - Microcephaly-cardiomyopathy syndrome - - Malformation syndrome - - - - - - - - 2522 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2522 - Microcephaly-cervical spine fusion anomalies syndrome - - Malformation syndrome - - - - - - - - 2523 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2523 - Microcephaly-brain defect-spasticity-hypernatremia syndrome - - Malformation syndrome - - - - - - - - 2526 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2526 - Microcephaly-lymphedema-chorioretinopathy syndrome - - Malformation syndrome - - - - - - - - 2528 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2528 - Microcephaly-microcornea syndrome, Seemanova type - - Malformation syndrome - - - - - - - - 99742 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99742 - Amish lethal microcephaly - - Malformation syndrome - - - - - - - - 293967 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293967 - Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome - - Malformation syndrome - - - - - - - - 294016 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294016 - Microcephaly-capillary malformation syndrome - - Malformation syndrome - - - - - - - - 306558 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306558 - Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome - - Disease - - - - - - - - 313795 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313795 - Jawad syndrome - - Malformation syndrome - - - - - - - - 324761 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324761 - Microcephalic primordial dwarfism - - Clinical group - - - - - - 808 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=808 - Seckel syndrome - - Malformation syndrome - - - - - - - - 2554 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2554 - Ear-patella-short stature syndrome - - Malformation syndrome - - - - - - - - 2643 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2643 - Microcephalic primordial dwarfism, Toriello type - - Malformation syndrome - - - - - - - - 2636 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2636 - Microcephalic osteodysplastic primordial dwarfism types I and III - - Malformation syndrome - - - - - - - - 2637 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2637 - Microcephalic osteodysplastic primordial dwarfism type II - - Malformation syndrome - - - - - - - - 85172 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85172 - Microcephalic osteodysplastic dysplasia, Saul-Wilson type - - Disease - - - - - - - - 319671 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319671 - Alazami syndrome - - Malformation syndrome - - - - - - - - 319675 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319675 - Microcephalic primordial dwarfism, Dauber type - - Malformation syndrome - - - - - - - - 329228 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329228 - Microcephalic primordial dwarfism due to ZNF335 deficiency - - Malformation syndrome - - - - - - - - 468631 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=468631 - Microcephalic cortical malformations-short stature due to RTTN deficiency - - Malformation syndrome - - - - - - - - 658595 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=658595 - DNMT3A-related microcephalic dwarfism - - Malformation syndrome - - - - - - - - 572761 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572761 - DONSON-related microcephaly-short stature-limb abnormalities spectrum - - Malformation syndrome - - - - - - 572768 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572768 - Microcephaly-micromelia syndrome - - Clinical subtype - - - - - - - - 572773 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572773 - Microcephaly-short stature-limb abnormalities syndrome - - Clinical subtype - - - - - - - - - - - - 329332 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329332 - Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome - - Malformation syndrome - - - - - - - - 391408 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391408 - Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome - - Disease - - - - - - - - 402364 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=402364 - Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly - - Malformation syndrome - - - - - - - - 404437 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404437 - Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome - - Malformation syndrome - - - - - - - - 434179 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=434179 - Orofaciodigital syndrome type 14 - - Malformation syndrome - - - - - - - - 439897 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439897 - Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome - - Malformation syndrome - - - - - - - - 443162 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443162 - NDE1-related microhydranencephaly - - Malformation syndrome - - - - - - - - 477814 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477814 - Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome - - Malformation syndrome - - - - - - - - 662762 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662762 - Motor delay-microcephaly-speech impairment-ocular abnormalities syndrome - - Malformation syndrome - - - - - - - - 662179 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662179 - Microcephaly-hearing loss-facial dysmorphism-intellectual disability syndrome - - Malformation syndrome - - - - - - - - 664923 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=664923 - Congenital arthrogryposis-microcephaly-facial dysmorphism-severe neurodevelopmental delay syndrome - - Malformation syndrome - - - - - - - - 659642 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=659642 - Rauch-Steindl syndrome - - Malformation syndrome - - - - - - - - 684240 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=684240 - Neurodevelopmental disorder-spasticity-movement disorder-epileptic syndrome - - Malformation syndrome - - - - - - - - 699844 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699844 - Microcephaly-corpus callosum hypoplasia-simplified gyral pattern-intellectual disability syndrome - - Malformation syndrome - - - - - - - - 633035 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=633035 - Intellectual disability-early-onset cataract-microcephaly syndrome - - Malformation syndrome - - - - - - - - - - 269567 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269567 - Genetic syndrome with a cerebellar malformation as a major feature - - Category - - - - - - 480898 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480898 - Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome - - Disease - - - - - - - - 495875 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=495875 - Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome - - Malformation syndrome - - - - - - - - 1493 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1493 - Vici syndrome - - Malformation syndrome - - - - - - - - 314597 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314597 - Chudley-McCullough syndrome - - Malformation syndrome - - - - - - - - 2318 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2318 - Joubert syndrome with oculorenal defect - - Malformation syndrome - - - - - - - - 1454 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1454 - Joubert syndrome with hepatic defect - - Disease - - - - - - - - 1568 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1568 - X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome - - Malformation syndrome - - - - - - - - 2754 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2754 - Orofaciodigital syndrome type 6 - - Malformation syndrome - - - - - - - - 3322 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3322 - Hoyeraal-Hreidarsson syndrome - - Disease - - - - - - - - 42775 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=42775 - PHACE syndrome - - Malformation syndrome - - - - - - - - 65285 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65285 - Lhermitte-Duclos disease - - Clinical subtype - - - - - - - - 65288 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65288 - Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome - - Malformation syndrome - - - - - - - - 85186 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85186 - Endosteal sclerosis-cerebellar hypoplasia syndrome - - Malformation syndrome - - - - - - - - 137831 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137831 - X-linked intellectual disability-cerebellar hypoplasia syndrome - - Disease - - - - - - - - 163937 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163937 - X-linked intellectual disability, Najm type - - Disease - - - - - - - - 163961 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163961 - X-linked cerebral-cerebellar-coloboma syndrome - - Disease - - - - - - - - 220493 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220493 - Joubert syndrome with ocular defect - - Malformation syndrome - - - - - - - - 220497 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220497 - Joubert syndrome with renal defect - - Malformation syndrome - - - - - - - - 269570 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269570 - Genetic syndrome with a Dandy-Walker malformation as a major feature - - Category - - - - - - 1566 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1566 - Dandy-Walker malformation-postaxial polydactyly syndrome - - Malformation syndrome - - - - - - - - 1538 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1538 - Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome - - Malformation syndrome - - - - - - - - 7 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=7 - 3C syndrome - - Malformation syndrome - - - - - - - - 916 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=916 - Aase-Smith syndrome - - Malformation syndrome - - - - - - - - 1970 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1970 - Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome - - Malformation syndrome - - - - - - - - 2218 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2218 - Cervical hypertrichosis-peripheral neuropathy syndrome - - Disease - - - - - - - - 3032 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3032 - NPHP3-related Meckel-like syndrome - - Malformation syndrome - - - - - - - - 79332 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79332 - B4GALT1-CDG - - Disease - - - - - - - - - - 370022 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370022 - Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome - - Disease - - - - - - - - 397709 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397709 - Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome - - Malformation syndrome - - - - - - - - 401959 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401959 - Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome - - Malformation syndrome - - - - - - - - 439897 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439897 - Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome - - Malformation syndrome - - - - - - - - 444072 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444072 - Cerebellar-facial-dental syndrome - - Malformation syndrome - - - - - - - - 300573 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300573 - Polymicrogyria due to TUBB2B mutation - - Malformation syndrome - - - - - - - - 443162 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443162 - NDE1-related microhydranencephaly - - Malformation syndrome - - - - - - - - 457284 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457284 - Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome - - Malformation syndrome - - - - - - - - 529665 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=529665 - Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome - - Malformation syndrome - - - - - - - - 611223 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=611223 - EN1-related dorsoventral syndrome - - Malformation syndrome - - - - - - - - 467166 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=467166 - Tubulinopathy-associated dysgyria - - Disease - - - - - - - - 2703 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2703 - Port-wine nevi-mega cisterna magna-hydrocephalus syndrome - - Malformation syndrome - - - - - - - - 459070 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=459070 - X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome - - Malformation syndrome - - - - - - - - 466688 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466688 - Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome - - Malformation syndrome - - - - - - - - 468699 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=468699 - SLC39A8-CDG - - Disease - - - - - - - - - - 269573 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269573 - Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature - - Category - - - - - - 2510 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2510 - Micro syndrome - - Malformation syndrome - - - - - - - - 1083 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1083 - Microlissencephaly - - Morphological anomaly - - - - - - 89844 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=89844 - Lissencephaly syndrome, Norman-Roberts type - - Clinical subtype - - - - - - - - - - 83473 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83473 - Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome - - Malformation syndrome - - - - - - - - 50 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50 - Aicardi syndrome - - Disease - - - - - - - - 36 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36 - Acrocallosal syndrome - - Malformation syndrome - - - - - - - - 1496 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1496 - Corpus callosum agenesis-neuronopathy syndrome - - Disease - - - - - - - - 1493 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1493 - Vici syndrome - - Malformation syndrome - - - - - - - - 1495 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1495 - Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome - - Malformation syndrome - - - - - - - - 1777 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1777 - Temtamy syndrome - - Malformation syndrome - - - - - - - - 3338 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3338 - Toriello-Carey syndrome - - Malformation syndrome - - - - - - - - 52055 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52055 - Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome - - Malformation syndrome - - - - - - - - 171703 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171703 - Microcephaly-polymicrogyria-corpus callosum agenesis syndrome - - Malformation syndrome - - - - - - - - 275543 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275543 - L1 syndrome - - Malformation syndrome - - - - - - 2182 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2182 - Hydrocephalus with stenosis of the aqueduct of Sylvius - - Clinical subtype - - - - - - - - 2466 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2466 - MASA syndrome - - Clinical subtype - - - - - - - - 1497 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1497 - X-linked complicated corpus callosum dysgenesis - - Clinical subtype - - - - - - - - 306617 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306617 - X-linked complicated spastic paraplegia type 1 - - Clinical subtype - - - - - - - - - - 423655 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423655 - ARX-related encephalopathy-brain malformation spectrum - - Clinical group - - - - - - 2508 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2508 - Corpus callosum agenesis-abnormal genitalia syndrome - - Malformation syndrome - - - - - - - - 452 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=452 - X-linked lissencephaly with abnormal genitalia - - Malformation syndrome - - - - - - - - - - 467166 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=467166 - Tubulinopathy-associated dysgyria - - Disease - - - - - - - - 694937 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=694937 - Intellectual disability-peripheral neuropathy-corpus callosum abnormalities syndrome due to nudix hydrolase 2 deficiency - - Malformation syndrome - - - - - - - - 466688 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466688 - Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome - - Malformation syndrome - - - - - - - - 459074 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=459074 - Corpus callosum agenesis-macrocephaly-hypertelorism syndrome - - Malformation syndrome - - - - - - - - 447893 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447893 - Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome - - Clinical subtype - - - - - - - - - - 306547 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306547 - Porencephaly-microcephaly-bilateral congenital cataract syndrome - - Malformation syndrome - - - - - - - - 314993 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314993 - Cataract-congenital heart disease-neural tube defect syndrome - - Malformation syndrome - - - - - - - - 356961 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=356961 - SLC35A2-CDG - - Disease - - - - - - - - 444069 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444069 - Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome - - Malformation syndrome - - - - - - - - 480528 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480528 - Lethal hydranencephaly-diaphragmatic hernia syndrome - - Malformation syndrome - - - - - - - - 2184 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2184 - Hydrocephaly-low insertion umbilicus syndrome - - Malformation syndrome - - - - - - - - 2117 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2117 - Hartsfield syndrome - - Malformation syndrome - - - - - - - - 500135 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500135 - Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome - - Malformation syndrome - - - - - - - - 500144 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500144 - Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome - - Malformation syndrome - - - - - - - - 500150 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500150 - Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome - - Malformation syndrome - - - - - - - - 1861 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1861 - Thoracic dysplasia-hydrocephalus syndrome - - Malformation syndrome - - - - - - - - 592570 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=592570 - TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome - - Malformation syndrome - - - - - - - - 610569 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=610569 - KIAA1109-related early lethal congenital brain malformations-arthrogryposis syndrome - - Disease - - - - - - - - 603448 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=603448 - Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome - - Malformation syndrome - - - - - - - - - - - - 183533 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183533 - Genetic multiple congenital anomalies/dysmorphic syndrome - - Category - - - - - - 471383 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=471383 - Genetic lethal multiple congenital anomalies/dysmorphic syndrome - - Category - - - - - - 2570 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2570 - Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome - - Malformation syndrome - - - - - - - - 33108 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33108 - Lethal multiple pterygium syndrome - - Malformation syndrome - - - - - - - - 2547 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2547 - Microphthalmia-microtia-fetal akinesia syndrome - - Malformation syndrome - - - - - - - - 480528 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480528 - Lethal hydranencephaly-diaphragmatic hernia syndrome - - Malformation syndrome - - - - - - - - 527468 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=527468 - Diaphragmatic hernia-short bowel-asplenia syndrome - - Malformation syndrome - - - - - - - - 500135 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500135 - Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome - - Malformation syndrome - - - - - - - - 3376 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3376 - Triploidy syndrome - - Malformation syndrome - - - - - - - - 564 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=564 - Meckel syndrome - - Malformation syndrome - - - - - - - - 1234 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1234 - Bartsocas-Papas syndrome - - Malformation syndrome - - - - - - - - 1780 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1780 - Thakker-Donnai syndrome - - Malformation syndrome - - - - - - - - 1895 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1895 - Edinburgh malformation syndrome - - Malformation syndrome - - - - - - - - 199332 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199332 - Endocrine-cerebro-osteodysplasia syndrome - - Malformation syndrome - - - - - - - - 210144 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210144 - Lethal polymalformative syndrome, Boissel type - - Malformation syndrome - - - - - - - - 444069 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444069 - Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome - - Malformation syndrome - - - - - - - - 2077 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2077 - German syndrome - - Malformation syndrome - - - - - - - - 2432 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2432 - Macrosomia-microphthalmia-cleft palate syndrome - - Malformation syndrome - - - - - - - - 1972 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1972 - Lethal faciocardiomelic dysplasia - - Malformation syndrome - - - - - - - - 615954 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=615954 - Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome - - Clinical syndrome - - - - - - 615983 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=615983 - Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to a point mutation - - Etiological subtype - - - - - - - - 615986 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=615986 - Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to biallelic deletions in the ATAD3 gene cluster - - Etiological subtype - - - - - - - - - - 580933 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=580933 - Lethal brain and heart developmental defects - - Malformation syndrome - - - - - - - - 633099 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=633099 - PAICS deficiency - - Malformation syndrome - - - - - - - - - - 330206 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=330206 - Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability - - Category - - - - - - 1323 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1323 - Camptodactyly-joint contractures-facial skeletal defects syndrome - - Malformation syndrome - - - - - - - - 141132 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141132 - Oculo-auriculo-vertebral spectrum - - Malformation syndrome - - - - - - - - 2104 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2104 - Dysmorphism-pectus carinatum-joint laxity syndrome - - Malformation syndrome - - - - - - - - 643503 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=643503 - Marfanoid habitus-facial dysmorphism-skeletal abnormality-heart defect syndrome - - Disease - - - - - - - - 647811 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=647811 - Cardiac-urogenital syndrome - - Disease - - - - - - - - 567502 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=567502 - B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome - - Disease - - - - - - - - 659873 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=659873 - Wormian bones-micrognathia-abnormal dentition-progeroid syndrome - - Malformation syndrome - - - - - - - - 658805 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=658805 - Greig cephalopolysyndactyly-contiguous gene syndrome - - Malformation syndrome - - - - - - - - 685067 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=685067 - Hypodontia-scalp hypotrichosis-facial dysmorphism syndrome - - Disease - - - - - - - - 688581 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=688581 - Midface hypoplasia-hearing impairment-elliptocytosis-nephrocalcinosis syndrome - - Malformation syndrome - - - - - - - - 689822 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=689822 - Structural heart defects-renal anomalies syndrome - - Malformation syndrome - - - - - - - - 1968 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1968 - Flat face-microstomia-ear anomaly syndrome - - Malformation syndrome - - - - - - - - 1969 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1969 - Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome - - Malformation syndrome - - - - - - - - 71271 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71271 - Split hand-split foot-deafness syndrome - - Malformation syndrome - - - - - - - - 397623 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397623 - Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome - - Malformation syndrome - - - - - - - - 2717 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2717 - Oculotrichoanal syndrome - - Malformation syndrome - - - - - - - - 2703 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2703 - Port-wine nevi-mega cisterna magna-hydrocephalus syndrome - - Malformation syndrome - - - - - - - - 2062 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2062 - Progressive non-infectious anterior vertebral fusion - - Malformation syndrome - - - - - - - - 2250 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2250 - Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome - - Disease - - - - - - - - 508 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508 - Donohue syndrome - - Malformation syndrome - - - - - - - - 857 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=857 - Townes-Brocks syndrome - - Malformation syndrome - - - - - - - - 107 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=107 - BOR syndrome - - Malformation syndrome - - - - - - - - 52 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52 - Alagille syndrome - - Malformation syndrome - - - - - - 261600 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261600 - Alagille syndrome due to 20p12 microdeletion - - Etiological subtype - - - - - - - - 261619 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261619 - Alagille syndrome due to a JAG1 point mutation - - Etiological subtype - - - - - - - - 261629 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261629 - Alagille syndrome due to a NOTCH2 point mutation - - Etiological subtype - - - - - - - - - - 861 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=861 - Treacher-Collins syndrome - - Malformation syndrome - - - - - - - - 245 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=245 - Nager syndrome - - Malformation syndrome - - - - - - - - 1146 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1146 - Distal arthrogryposis type 1 - - Malformation syndrome - - - - - - - - 1406 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1406 - Charlie M syndrome - - Malformation syndrome - - - - - - - - 246 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=246 - Postaxial acrofacial dysostosis - - Malformation syndrome - - - - - - - - 2053 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2053 - Freeman-Sheldon syndrome - - Malformation syndrome - - - - - - - - 560 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=560 - Marshall syndrome - - Malformation syndrome - - - - - - - - 84 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=84 - Fanconi anemia - - Malformation syndrome - - - - - - - - 3440 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3440 - Waardenburg syndrome - - Disease - - - - - - 894 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=894 - Waardenburg syndrome type 1 - - Clinical subtype - - - - - - - - 895 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=895 - Waardenburg syndrome type 2 - - Clinical subtype - - - - - - - - 896 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=896 - Waardenburg syndrome type 3 - - Clinical subtype - - - - - - - - - - 888 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=888 - Van der Woude syndrome - - Malformation syndrome - - - - - - - - 184 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=184 - Cherubism - - Malformation syndrome - - - - - - - - 392 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=392 - Holt-Oram syndrome - - Malformation syndrome - - - - - - - - 500 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500 - Noonan syndrome with multiple lentigines - - Malformation syndrome - - - - - - - - 2052 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2052 - Fraser syndrome - - Malformation syndrome - - - - - - - - 1354 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1354 - Heart defects-limb shortening syndrome - - Malformation syndrome - - - - - - - - 916 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=916 - Aase-Smith syndrome - - Malformation syndrome - - - - - - - - 921 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=921 - Abruzzo-Erickson syndrome - - Malformation syndrome - - - - - - - - 949 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=949 - Acrocraniofacial dysostosis - - Malformation syndrome - - - - - - - - 952 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=952 - Acrofacial dysostosis, Weyers type - - Malformation syndrome - - - - - - - - 958 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=958 - Acro-renal-mandibular syndrome - - Malformation syndrome - - - - - - - - 959 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=959 - Acro-renal-ocular syndrome - - Malformation syndrome - - - - - - - - 971 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=971 - Acrorenal syndrome - - Malformation syndrome - - - - - - - - 991 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=991 - PAGOD syndrome - - Malformation syndrome - - - - - - - - 994 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=994 - Fetal akinesia deformation sequence - - Malformation syndrome - - - - - - - - 1094 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1094 - Anonychia-microcephaly syndrome - - Malformation syndrome - - - - - - - - 1104 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1104 - Anophthalmia plus syndrome - - Malformation syndrome - - - - - - - - 1200 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1200 - Burn-McKeown syndrome - - Malformation syndrome - - - - - - - - 1231 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1231 - Barber-Say syndrome - - Malformation syndrome - - - - - - - - 1237 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1237 - Beemer-Ertbruggen syndrome - - Malformation syndrome - - - - - - - - 1241 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1241 - Bencze syndrome - - Malformation syndrome - - - - - - - - 1248 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1248 - Maxillonasal dysplasia - - Malformation syndrome - - - - - - - - 1253 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1253 - Ascher syndrome - - Malformation syndrome - - - - - - - - 1295 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1295 - Brachytelephalangy-dysmorphism-Kallmann syndrome - - Malformation syndrome - - - - - - - - 1297 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1297 - Branchio-oculo-facial syndrome - - Malformation syndrome - - - - - - - - 1326 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1326 - Camptodactyly syndrome, Guadalajara type 2 - - Malformation syndrome - - - - - - - - 1327 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1327 - Camptodactyly syndrome, Guadalajara type 1 - - Malformation syndrome - - - - - - - - 1335 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1335 - Pentalogy of Cantrell - - Malformation syndrome - - - - - - - - 1338 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1338 - Heart defect-tongue hamartoma-polysyndactyly syndrome - - Malformation syndrome - - - - - - - - 1342 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1342 - Heart-hand syndrome type 3 - - Malformation syndrome - - - - - - - - 1350 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1350 - Heart-hand syndrome type 2 - - Malformation syndrome - - - - - - - - 1352 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1352 - Atrioventricular defect-blepharophimosis-radial and anal defect syndrome - - Malformation syndrome - - - - - - - - 1373 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1373 - Cataract-aberrant oral frenula-growth delay syndrome - - Malformation syndrome - - - - - - - - 1390 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1390 - Night blindness-skeletal anomalies-dysmorphism syndrome - - Malformation syndrome - - - - - - - - 1458 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1458 - CODAS syndrome - - Malformation syndrome - - - - - - - - 1486 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1486 - Lethal congenital contracture syndrome type 1 - - Malformation syndrome - - - - - - - - 1493 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1493 - Vici syndrome - - Malformation syndrome - - - - - - - - 1519 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1519 - SPECC1L-related hypertelorism syndrome - - Malformation syndrome - - - - - - - - 1529 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1529 - Craniofacial-deafness-hand syndrome - - Malformation syndrome - - - - - - - - 1547 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1547 - Cryptomicrotia-brachydactyly-excess fingertip arch syndrome - - Malformation syndrome - - - - - - - - 1555 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1555 - Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome - - Malformation syndrome - - - - - - - - 1563 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1563 - Dahlberg-Borer-Newcomer syndrome - - Malformation syndrome - - - - - - - - 1974 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1974 - Autosomal recessive faciodigitogenital syndrome - - Malformation syndrome - - - - - - - - 1988 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1988 - Femoral-facial syndrome - - Malformation syndrome - - - - - - - - 1995 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1995 - Cleft lip-retinopathy syndrome - - Malformation syndrome - - - - - - - - 1997 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1997 - Blepharo-cheilo-odontic syndrome - - Malformation syndrome - - - - - - - - 2001 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2001 - Cleft lip/palate-intestinal malrotation-cardiopathy syndrome - - Malformation syndrome - - - - - - - - 2007 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2007 - Alar cartilages hypoplasia-coloboma-telecanthus syndrome - - Malformation syndrome - - - - - - - - 2016 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2016 - Cleft palate-lateral synechia syndrome - - Malformation syndrome - - - - - - - - 2025 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2025 - Gingival fibromatosis-facial dysmorphism syndrome - - Malformation syndrome - - - - - - - - 2036 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2036 - Scalp-ear-nipple syndrome - - Malformation syndrome - - - - - - - - 2050 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2050 - Cole-Carpenter syndrome - - Malformation syndrome - - - - - - - - 1791 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1791 - Frontofacionasal dysplasia - - Malformation syndrome - - - - - - - - 2057 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2057 - Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome - - Malformation syndrome - - - - - - - - 2064 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2064 - Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome - - Malformation syndrome - - - - - - - - 2075 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2075 - Genitopalatocardiac syndrome - - Malformation syndrome - - - - - - - - 2091 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2091 - Multinodular goiter-cystic kidney-polydactyly syndrome - - Malformation syndrome - - - - - - - - 376 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=376 - Gordon syndrome - - Malformation syndrome - - - - - - - - 2994 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2994 - Short stature-craniofacial anomalies-genital hypoplasia syndrome - - Malformation syndrome - - - - - - - - 2141 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2141 - Diaphragmatic defect-limb deficiency-skull defect syndrome - - Malformation syndrome - - - - - - - - 2150 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2150 - Hirschsprung disease-type D brachydactyly syndrome - - Malformation syndrome - - - - - - - - 2155 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2155 - Hirschsprung disease-deafness-polydactyly syndrome - - Malformation syndrome - - - - - - - - 2167 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2167 - Holzgreve syndrome - - Malformation syndrome - - - - - - - - 2181 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2181 - Hydrocephaly-tall stature-joint laxity syndrome - - Malformation syndrome - - - - - - - - 2211 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2211 - Hypertelorism-hypospadias-polysyndactyly syndrome - - Malformation syndrome - - - - - - - - 2252 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2252 - Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome - - Malformation syndrome - - - - - - - - 2256 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2256 - Fibulo-ulnar hypoplasia-renal anomalies syndrome - - Malformation syndrome - - - - - - - - 139 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139 - CHILD syndrome - - Disease - - - - - - - - 2272 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2272 - Ichthyosis-oral and digital anomalies syndrome - - Malformation syndrome - - - - - - - - 2319 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2319 - Juberg-Hayward syndrome - - Malformation syndrome - - - - - - - - 2353 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2353 - Schilbach-Rott syndrome - - Malformation syndrome - - - - - - - - 2363 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2363 - Lacrimoauriculodentodigital syndrome - - Malformation syndrome - - - - - - - - 2399 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2399 - Nasopalpebral lipoma-coloboma syndrome - - Malformation syndrome - - - - - - - - 2412 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2412 - Dislocation of the hip-dysmorphism syndrome - - Malformation syndrome - - - - - - - - 2437 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2437 - Czeizel-Losonci syndrome - - Malformation syndrome - - - - - - - - 2438 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2438 - Hand-foot-genital syndrome - - Malformation syndrome - - - - - - - - 2457 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2457 - Mandibuloacral dysplasia - - Malformation syndrome - - - - - - 90153 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90153 - Mandibuloacral dysplasia with type A lipodystrophy - - Clinical subtype - - - - - - - - 90154 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90154 - Mandibuloacral dysplasia with type B lipodystrophy - - Clinical subtype - - - - - - - - - - 2470 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2470 - Matthew-Wood syndrome - - Malformation syndrome - - - - - - - - 2473 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2473 - McKusick-Kaufman syndrome - - Malformation syndrome - - - - - - - - 2475 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2475 - White forelock with malformations - - Malformation syndrome - - - - - - - - 2484 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2484 - Melnick-Needles syndrome - - Malformation syndrome - - - - - - - - 2491 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2491 - Müllerian duct anomalies-limb anomalies syndrome - - Malformation syndrome - - - - - - - - 2513 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2513 - Microcephaly-albinism-digital anomalies syndrome - - Malformation syndrome - - - - - - - - 2516 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2516 - Microcephaly-cardiac defect-lung malsegmentation syndrome - - Malformation syndrome - - - - - - - - 2549 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2549 - Oculoauriculovertebral spectrum with radial defects - - Malformation syndrome - - - - - - - - 2561 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2561 - Pyramidal molars-abnormal upper lip syndrome - - Malformation syndrome - - - - - - - - 2616 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2616 - 3M syndrome - - Malformation syndrome - - - - - - - - 2631 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2631 - Mesomelic dwarfism-cleft palate-camptodactyly syndrome - - Malformation syndrome - - - - - - - - 2662 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2662 - Keipert syndrome - - Malformation syndrome - - - - - - - - 2669 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2669 - Nephrosis-deafness-urinary tract-digital malformations syndrome - - Malformation syndrome - - - - - - - - 2674 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2674 - Cyprus facial-neuromusculoskeletal syndrome - - Malformation syndrome - - - - - - - - 2825 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2825 - PARC syndrome - - Malformation syndrome - - - - - - - - 2832 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2832 - Short tarsus-absence of lower eyelashes syndrome - - Malformation syndrome - - - - - - - - 2868 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2868 - Short stature-valvular heart disease-characteristic facies syndrome - - Malformation syndrome - - - - - - - - 2876 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2876 - PHAVER syndrome - - Malformation syndrome - - - - - - - - 2934 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2934 - Polysyndactyly-cardiac malformation syndrome - - Malformation syndrome - - - - - - - - 2964 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2964 - Autosomal dominant prognathism - - Malformation syndrome - - - - - - - - 2990 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2990 - Autosomal recessive multiple pterygium syndrome - - Malformation syndrome - - - - - - - - 3021 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3021 - RAPADILINO syndrome - - Malformation syndrome - - - - - - - - 3102 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3102 - Richieri Costa-Pereira syndrome - - Malformation syndrome - - - - - - - - 647 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=647 - Nijmegen breakage syndrome - - Malformation syndrome - - - - - - - - 3201 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3201 - Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome - - Malformation syndrome - - - - - - - - 3241 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3241 - Deafness-craniofacial syndrome - - Malformation syndrome - - - - - - - - 3301 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3301 - Tetraamelia-multiple malformations syndrome - - Malformation syndrome - - - - - - - - 3316 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3316 - Thomas syndrome - - Malformation syndrome - - - - - - - - 3326 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3326 - Thymic-renal-anal-lung dysplasia - - Malformation syndrome - - - - - - - - 3328 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3328 - Absent tibia-polydactyly-arachnoid cyst syndrome - - Malformation syndrome - - - - - - - - 3368 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3368 - Trigonocephaly-bifid nose-acral anomalies syndrome - - Malformation syndrome - - - - - - - - 2460 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2460 - Van den Ende-Gupta syndrome - - Malformation syndrome - - - - - - - - 3424 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3424 - Velo-facial-skeletal syndrome - - Malformation syndrome - - - - - - - - 3429 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3429 - Verloove Vanhorick-Brubakk syndrome - - Malformation syndrome - - - - - - - - 3449 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3449 - Weill-Marchesani syndrome - - Malformation syndrome - - - - - - - - 1101 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1101 - Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome - - Malformation syndrome - - - - - - - - 3439 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3439 - Von Voss-Cherstvoy syndrome - - Malformation syndrome - - - - - - - - 782 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=782 - Axenfeld-Rieger syndrome - - Malformation syndrome - - - - - - - - 50814 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50814 - Craniolenticulosutural dysplasia - - Malformation syndrome - - - - - - - - 52047 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52047 - Braddock syndrome - - Malformation syndrome - - - - - - - - 52429 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52429 - Branchiootic syndrome - - Malformation syndrome - - - - - - - - 77300 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77300 - Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome - - Malformation syndrome - - - - - - - - 79094 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79094 - Grange syndrome - - Malformation syndrome - - - - - - - - 79107 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79107 - Developmental malformations-deafness-dystonia syndrome - - Malformation syndrome - - - - - - - - 83619 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83619 - Macrostomia-preauricular tags-external ophthalmoplegia syndrome - - Malformation syndrome - - - - - - - - 83628 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83628 - LUMBAR syndrome - - Malformation syndrome - - - - - - - - 2835 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2835 - Pectus excavatum-macrocephaly-dysplastic nails syndrome - - Malformation syndrome - - - - - - - - 99330 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99330 - 49,XYYYY syndrome - - Malformation syndrome - - - - - - - - 137776 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137776 - Lethal congenital contracture syndrome type 2 - - Malformation syndrome - - - - - - - - 137783 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137783 - Lethal congenital contracture syndrome type 3 - - Malformation syndrome - - - - - - - - 140952 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140952 - Syndactyly-telecanthus-anogenital and renal malformations syndrome - - Malformation syndrome - - - - - - - - 166100 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166100 - Autosomal dominant otospondylomegaepiphyseal dysplasia - - Malformation syndrome - - - - - - - - 178303 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178303 - 8q22.1 microdeletion syndrome - - Malformation syndrome - - - - - - - - 217026 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217026 - Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type - - Malformation syndrome - - - - - - - - 217266 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217266 - BNAR syndrome - - Malformation syndrome - - - - - - - - 240760 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=240760 - Nijmegen breakage syndrome-like disorder - - Malformation syndrome - - - - - - - - 264200 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=264200 - 14q22q23 microdeletion syndrome - - Malformation syndrome - - - - - - - - 280558 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280558 - Warsaw breakage syndrome - - Malformation syndrome - - - - - - - - 314002 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314002 - Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome - - Malformation syndrome - - - - - - - - 380 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=380 - Greig cephalopolysyndactyly syndrome - - Malformation syndrome - - - - - - - - 2793 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2793 - Otoonychoperoneal syndrome - - Malformation syndrome - - - - - - - - 3023 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3023 - External auditory canal atresia-vertical talus-hypertelorism syndrome - - Malformation syndrome - - - - - - - - 508476 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508476 - Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome - - Malformation syndrome - - - - - - - - 521438 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521438 - Congenital vertebral-cardiac-renal anomalies syndrome - - Malformation syndrome - - - - - - - - 496751 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=496751 - EVEN-plus syndrome - - Malformation syndrome - - - - - - - - 488232 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488232 - Split-foot malformation-mesoaxial polydactyly syndrome - - Malformation syndrome - - - - - - - - 3191 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3191 - Subaortic stenosis-short stature syndrome - - Malformation syndrome - - - - - - - - 1655 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1655 - Müllerian derivatives-lymphangiectasia-polydactyly syndrome - - Malformation syndrome - - - - - - - - - - 611327 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=611327 - Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability - - Category - - - - - - 314555 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314555 - Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome - - Malformation syndrome - - - - - - - - 662829 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662829 - Intellectual disability-speech delay-dysmorphic features-T cell abnormalities syndrome - - Disease - - - - - - - - 662189 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662189 - Neurodevelopmental disorder-brain malformation-facial dysmorphism-brachydactyly syndrome - - Malformation syndrome - - - - - - - - 662198 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662198 - Neurodevelopmental delay-intellectual disability-skeletal defects syndrome - - Malformation syndrome - - - - - - - - 662207 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662207 - Neurodevelopmental delay-brain malformations-skeletal defects-intellectual disability syndrome - - Malformation syndrome - - - - - - - - 656130 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=656130 - PBX1-related congenital anomalies of kidney-urinary tract syndrome - - Disease - - - - - - - - 656135 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=656135 - Intellectual disability-cupped ears syndrome - - Disease - - - - - - - - 653712 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=653712 - CHD4-related neurodevelopmental disorder - - Disease - - - - - - - - 653767 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=653767 - Jansen-de Vries syndrome - - Disease - - - - - - - - 658540 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=658540 - 16q22 deletion syndrome - - Malformation syndrome - - - - - - - - 658843 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=658843 - Developmental delay-ataxia-hypotonia-facial dysmorphism syndrome - - Malformation syndrome - - - - - - - - 659702 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=659702 - Intrauterine growth retardation-micrognathia-short stature-facial dysmorphism-rhizomelic shortening syndrome - - Malformation syndrome - - - - - - - - 659975 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=659975 - Sensorineural hearing loss-spastic quadriplegia-intellectual disability syndrome - - Malformation syndrome - - - - - - - - 659904 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=659904 - Multiple congenital anomalies-neurodevelopmental delay-ocular abnormalities syndrome - - Malformation syndrome - - - - - - - - 660021 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=660021 - Orofacial clefting-cardiac anomalies-facial dysmorphism syndrome - - Malformation syndrome - - - - - - - - 662762 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662762 - Motor delay-microcephaly-speech impairment-ocular abnormalities syndrome - - Malformation syndrome - - - - - - - - 662175 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662175 - Macrocephaly-congenital heart disease-facial dysmorphism-intellectual disability syndrome - - Malformation syndrome - - - - - - - - 662179 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662179 - Microcephaly-hearing loss-facial dysmorphism-intellectual disability syndrome - - Malformation syndrome - - - - - - - - 646278 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=646278 - CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome - - Disease - - - - - - - - 675775 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=675775 - Severe congenital myelofibrosis-pancytopenia-intellectual disability-neurologic and ophthalmic abnormalities syndrome - - Disease - - - - - - - - 652519 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=652519 - Cleft palate-congenital heart defect-intellectual disability syndrome - - Disease - - - - - - 652514 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=652514 - Cleft palate-congenital heart defect-intellectual disability syndrome due to MEIS2 mutation - - Clinical subtype - - - - - - - - 261190 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261190 - Cleft palate-congenital heart defect-intellectual disability syndrome due to 15q14 microdeletion - - Clinical subtype - - - - - - - - - - 611201 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=611201 - Oculogastrointestinal-neurodevelopmental syndrome - - Malformation syndrome - - - - - - - - 528 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=528 - Congenital generalized lipodystrophy - - Disease - - - - - - 696289 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=696289 - Congenital generalized lipodystrophy type 2 - - Clinical subtype - - - - - - - - 696242 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=696242 - PPARG-associated congenital generalized lipodystrophy - - Clinical subtype - - - - - - - - 696206 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=696206 - Congenital generalized lipodystrophy type 3 - - Clinical subtype - - - - - - - - 696189 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=696189 - Congenital generalized lipodystrophy type 1 - - Clinical subtype - - - - - - - - 228429 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228429 - Congenital generalized lipodystrophy type 4 - - Clinical subtype - - - - - - - - - - 475 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=475 - Isolated Joubert syndrome - - Malformation syndrome - - - - - - - - 2052 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2052 - Fraser syndrome - - Malformation syndrome - - - - - - - - 251019 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251019 - 2q32q33 deletion syndrome - - Malformation syndrome - - - - - - - - 3472 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3472 - Yunis-Varon syndrome - - Malformation syndrome - - - - - - - - 110 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=110 - Bardet-Biedl syndrome - - Disease - - - - - - - - 50815 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50815 - Branchiogenic deafness syndrome - - Malformation syndrome - - - - - - - - 52022 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52022 - Potocki-Shaffer syndrome - - Malformation syndrome - - - - - - - - 65759 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65759 - Carpenter syndrome - - Malformation syndrome - - - - - - - - 97360 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97360 - Robinow syndrome - - Malformation syndrome - - - - - - 1507 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1507 - Autosomal recessive Robinow syndrome - - Clinical subtype - - - - - - - - 3107 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3107 - Autosomal dominant Robinow syndrome - - Clinical subtype - - - - - - - - - - 99741 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99741 - King-Denborough syndrome - - Malformation syndrome - - - - - - - - 276630 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276630 - Symptomatic form of Coffin-Lowry syndrome in female carriers - - Malformation syndrome - - - - - - - - 280679 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280679 - Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome - - Disease - - - - - - - - 289553 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289553 - Dysmorphism-conductive hearing loss-heart defect syndrome - - Malformation syndrome - - - - - - - - 436003 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436003 - Contractures-developmental delay-Pierre Robin syndrome - - Malformation syndrome - - - - - - - - 494439 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=494439 - Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome - - Malformation syndrome - - - - - - - - 496693 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=496693 - Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome - - Malformation syndrome - - - - - - - - 502430 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=502430 - Weiss-Kruszka Syndrome - - Malformation syndrome - - - - - - - - 502437 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=502437 - 4q25 proximal deletion syndrome - - Malformation syndrome - - - - - - - - 589856 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589856 - Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome - - Malformation syndrome - - - - - - - - 99812 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99812 - LIG4 syndrome - - Disease - - - - - - - - 610569 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=610569 - KIAA1109-related early lethal congenital brain malformations-arthrogryposis syndrome - - Disease - - - - - - - - 611207 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=611207 - Spondyloepiphyseal dysplasia-sensorineural hearing loss-intellectual disability-Leber congenital amaurosis syndrome - - Clinical syndrome - - - - - - - - 576 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=576 - Mucolipidosis type II - - Disease - - - - - - - - 137634 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137634 - Overgrowth-macrocephaly-facial dysmorphism syndrome - - Malformation syndrome - - - - - - - - 93473 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93473 - Hurler syndrome - - Clinical subtype - - - - - - - - 60040 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=60040 - Megalencephaly-capillary malformation-polymicrogyria syndrome - - Malformation syndrome - - - - - - - - 1458 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1458 - CODAS syndrome - - Malformation syndrome - - - - - - - - 664410 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=664410 - Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome - - Malformation syndrome - - - - - - 228384 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228384 - 5q14.3 microdeletion syndrome - - Etiological subtype - - - - - - - - 664416 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=664416 - Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome due to MEF2C mutation - - Etiological subtype - - - - - - - - - - 664438 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=664438 - Gingival fibromatosis-aortic root dilatation-facial dysmorphism-intellectual disability syndrome - - Malformation syndrome - - - - - - - - 664430 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=664430 - Neurodevelopmental disorder-slit-like lateral ventricles-intellectual disability syndrome - - Malformation syndrome - - - - - - - - 664923 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=664923 - Congenital arthrogryposis-microcephaly-facial dysmorphism-severe neurodevelopmental delay syndrome - - Malformation syndrome - - - - - - - - 2502 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2502 - Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome - - Malformation syndrome - - - - - - - - 2715 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2715 - Severe oculo-renal-cerebellar syndrome - - Malformation syndrome - - - - - - - - 2751 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2751 - Orofaciodigital syndrome type 2 - - Malformation syndrome - - - - - - - - 2753 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2753 - Orofaciodigital syndrome type 4 - - Malformation syndrome - - - - - - - - 2754 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2754 - Orofaciodigital syndrome type 6 - - Malformation syndrome - - - - - - - - 2776 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2776 - Autosomal recessive distal osteolysis syndrome - - Malformation syndrome - - - - - - - - 2788 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2788 - Osteoporosis-pseudoglioma syndrome - - Disease - - - - - - - - 2798 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2798 - Pachygyria-intellectual disability-epilepsy syndrome - - Malformation syndrome - - - - - - - - 2919 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2919 - Orofaciodigital syndrome type 5 - - Malformation syndrome - - - - - - - - 2928 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2928 - Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome - - Malformation syndrome - - - - - - - - 2962 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2962 - De Barsy syndrome - - Disease - - - - - - 35664 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35664 - ALDH18A1-related De Barsy syndrome - - Etiological subtype - - - - - - - - 293633 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293633 - PYCR1-related De Barsy syndrome - - Etiological subtype - - - - - - - - - - 3042 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3042 - Intellectual disability-cataracts-calcified pinnae-myopathy syndrome - - Malformation syndrome - - - - - - - - 3177 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3177 - Spinocerebellar degeneration-corneal dystrophy syndrome - - Malformation syndrome - - - - - - - - 3231 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3231 - Deafness-onychodystrophy syndrome - - Clinical group - - - - - - 79499 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79499 - Autosomal dominant deafness-onychodystrophy syndrome - - Malformation syndrome - - - - - - - - 79500 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79500 - DOORS syndrome - - Malformation syndrome - - - - - - - - - - 85282 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85282 - MEHMO syndrome - - Malformation syndrome - - - - - - - - 85285 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85285 - X-linked intellectual disability, Schimke type - - Malformation syndrome - - - - - - - - 85288 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85288 - X-linked intellectual disability, Stocco Dos Santos type - - Malformation syndrome - - - - - - - - 85297 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85297 - X-linked spinocerebellar ataxia type 3 - - Malformation syndrome - - - - - - - - 85320 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85320 - X-linked intellectual disability-macrocephaly-macroorchidism syndrome - - Malformation syndrome - - - - - - - - 85323 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85323 - X-linked intellectual disability, Seemanova type - - Disease - - - - - - - - 85324 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85324 - X-linked intellectual disability, Shrimpton type - - Malformation syndrome - - - - - - - - 85327 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85327 - X-linked intellectual disability-acromegaly-hyperactivity syndrome - - Disease - - - - - - - - 137831 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137831 - X-linked intellectual disability-cerebellar hypoplasia syndrome - - Disease - - - - - - - - 163937 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163937 - X-linked intellectual disability, Najm type - - Disease - - - - - - - - 163956 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163956 - X-linked intellectual disability, Nascimento type - - Disease - - - - - - - - 163961 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163961 - X-linked cerebral-cerebellar-coloboma syndrome - - Disease - - - - - - - - 163966 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163966 - X-linked dominant chondrodysplasia, Chassaing-Lacombe type - - Disease - - - - - - - - 163971 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163971 - X-linked intellectual disability, Cilliers type - - Disease - - - - - - - - 163976 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163976 - X-linked intellectual disability, Van Esch type - - Malformation syndrome - - - - - - - - 163979 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163979 - X-linked intellectual disability-craniofacioskeletal syndrome - - Disease - - - - - - - - 99329 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99329 - 48,XYYY syndrome - - Malformation syndrome - - - - - - - - 139474 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139474 - 17q11.2 microduplication syndrome - - Malformation syndrome - - - - - - - - 163649 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163649 - Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome - - Disease - - - - - - - - 163665 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163665 - Spondyloepiphyseal dysplasia tarda, Kohn type - - Disease - - - - - - - - 171703 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171703 - Microcephaly-polymicrogyria-corpus callosum agenesis syndrome - - Malformation syndrome - - - - - - - - 210548 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210548 - Macrocephaly-intellectual disability-autism syndrome - - Disease - - - - - - - - 247262 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247262 - Hyperphosphatasia-intellectual disability syndrome - - Disease - - - - - - - - 250972 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=250972 - Polymicrogyria with optic nerve hypoplasia - - Malformation syndrome - - - - - - - - 254516 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254516 - Temple syndrome - - Malformation syndrome - - - - - - 96184 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96184 - Temple syndrome due to maternal uniparental disomy of chromosome 14 - - Etiological subtype - - - - - - - - 254525 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254525 - Temple syndrome due to paternal 14q32.2 microdeletion - - Etiological subtype - - - - - - - - 254531 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254531 - Temple syndrome due to paternal 14q32.2 hypomethylation - - Etiological subtype - - - - - - - - - - 313947 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313947 - 2q23.1 microduplication syndrome - - Malformation syndrome - - - - - - - - 324313 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324313 - 9p13 microdeletion syndrome - - Malformation syndrome - - - - - - - - 2152 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2152 - Mowat-Wilson syndrome - - Malformation syndrome - - - - - - 261537 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261537 - Mowat-Wilson syndrome due to monosomy 2q22 - - Etiological subtype - - - - - - - - 261552 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261552 - Mowat-Wilson syndrome due to a ZEB2 point mutation - - Etiological subtype - - - - - - - - - - 2166 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2166 - Holoprosencephaly-postaxial polydactyly syndrome - - Malformation syndrome - - - - - - - - 2172 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2172 - Microcephaly-glomerulonephritis-marfanoid habitus syndrome - - Malformation syndrome - - - - - - - - 2213 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2213 - Hypertelorism-microtia-facial clefting syndrome - - Malformation syndrome - - - - - - - - 1051 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1051 - Ramos-Arroyo syndrome - - Malformation syndrome - - - - - - - - 2234 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2234 - Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome - - Malformation syndrome - - - - - - - - 2249 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2249 - Ulna hypoplasia-intellectual disability syndrome - - Malformation syndrome - - - - - - - - 2261 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2261 - Hypospadias-intellectual disability, Goldblatt type syndrome - - Malformation syndrome - - - - - - - - 2409 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2409 - Lowry-MacLean syndrome - - Malformation syndrome - - - - - - - - 2429 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2429 - Macrocephaly-spastic paraplegia-dysmorphism syndrome - - Malformation syndrome - - - - - - - - 2461 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2461 - Marden-Walker syndrome - - Malformation syndrome - - - - - - - - 2462 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2462 - Shprintzen-Goldberg syndrome - - Malformation syndrome - - - - - - - - 2463 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2463 - Marfanoid habitus-autosomal recessive intellectual disability syndrome - - Malformation syndrome - - - - - - - - 2471 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2471 - McDonough syndrome - - Malformation syndrome - - - - - - - - 2511 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2511 - Microbrachycephaly-ptosis-cleft lip syndrome - - Malformation syndrome - - - - - - - - 2515 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2515 - Microcephaly-cardiomyopathy syndrome - - Malformation syndrome - - - - - - - - 2518 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2518 - Autosomal recessive chorioretinopathy-microcephaly syndrome - - Malformation syndrome - - - - - - - - 2521 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2521 - Microcephaly-cleft palate-abnormal retinal pigmentation syndrome - - Malformation syndrome - - - - - - - - 2522 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2522 - Microcephaly-cervical spine fusion anomalies syndrome - - Malformation syndrome - - - - - - - - 2523 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2523 - Microcephaly-brain defect-spasticity-hypernatremia syndrome - - Malformation syndrome - - - - - - - - 2528 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2528 - Microcephaly-microcornea syndrome, Seemanova type - - Malformation syndrome - - - - - - - - 2533 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2533 - Microcephaly-deafness-intellectual disability syndrome - - Malformation syndrome - - - - - - - - 2588 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2588 - Myhre syndrome - - Malformation syndrome - - - - - - - - 2608 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2608 - N syndrome - - Malformation syndrome - - - - - - - - 2617 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2617 - Microcephalic primordial dwarfism, Montreal type - - Malformation syndrome - - - - - - - - 2658 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2658 - Lenz-Majewski hyperostotic dwarfism - - Malformation syndrome - - - - - - - - 2673 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2673 - Neurofaciodigitorenal syndrome - - Malformation syndrome - - - - - - - - 2707 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2707 - Oculocerebrofacial syndrome, Kaufman type - - Malformation syndrome - - - - - - - - 35981 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35981 - Polymicrogyria - - Clinical group - - - - - - 268940 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268940 - Bilateral polymicrogyria - - Morphological anomaly - - - - - - 98889 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98889 - Bilateral perisylvian polymicrogyria - - Clinical subtype - - - - - - - - 101070 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101070 - Bilateral frontoparietal polymicrogyria - - Clinical subtype - - - - - - - - 208441 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=208441 - Bilateral parasagittal parieto-occipital polymicrogyria - - Clinical subtype - - - - - - - - 208444 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=208444 - Bilateral frontal polymicrogyria - - Clinical subtype - - - - - - - - 208447 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=208447 - Bilateral generalized polymicrogyria - - Clinical subtype - - - - - - - - - - 268943 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268943 - Unilateral polymicrogyria - - Morphological anomaly - - - - - - 101071 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101071 - Unilateral hemispheric polymicrogyria - - Clinical subtype - - - - - - - - 268947 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268947 - Unilateral focal polymicrogyria - - Clinical subtype - - - - - - - - - - - - 48471 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=48471 - Lissencephaly - - Category - - - - - - 1083 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1083 - Microlissencephaly - - Morphological anomaly - - - - - - 89844 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=89844 - Lissencephaly syndrome, Norman-Roberts type - - Clinical subtype - - - - - - - - - - 51577 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=51577 - Cobblestone lissencephaly - - Clinical group - - - - - - 352682 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352682 - Cobblestone lissencephaly without muscular or ocular involvement - - Disease - - - - - - - - 352687 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352687 - Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies - - Clinical group - - - - - - 272 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=272 - Congenital muscular dystrophy, Fukuyama type - - Malformation syndrome - - - - - - - - 899 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=899 - Walker-Warburg syndrome - - Disease - - - - - - - - 588 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=588 - Muscle-eye-brain disease - - Malformation syndrome - - - - - - - - 370997 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370997 - Muscle-eye-brain disease with bilateral multicystic leucodystrophy - - Disease - - - - - - - - - - - - 86823 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86823 - Lissencephaly with cerebellar hypoplasia - - Clinical group - - - - - - 100011 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100011 - Lissencephaly with cerebellar hypoplasia type A - - Malformation syndrome - - - - - - - - 100012 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100012 - Lissencephaly with cerebellar hypoplasia type B - - Malformation syndrome - - - - - - - - 100013 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100013 - Lissencephaly with cerebellar hypoplasia type C - - Malformation syndrome - - - - - - - - 100014 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100014 - Lissencephaly with cerebellar hypoplasia type D - - Malformation syndrome - - - - - - - - 100015 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100015 - Lissencephaly with cerebellar hypoplasia type E - - Malformation syndrome - - - - - - - - 100016 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100016 - Lissencephaly with cerebellar hypoplasia type F - - Malformation syndrome - - - - - - - - - - 102009 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=102009 - Classic lissencephaly - - Clinical group - - - - - - 572013 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572013 - Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome - - Malformation syndrome - - - - - - - - 2148 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2148 - Lissencephaly type 1 due to doublecortin gene mutation - - Disease - - - - - - - - 531 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=531 - Miller-Dieker syndrome - - Malformation syndrome - - - - - - - - 1084 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1084 - Isolated lissencephaly type 1 without known genetic defects - - Disease - - - - - - - - 95232 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95232 - Lissencephaly due to LIS1 mutation - - Disease - - - - - - - - - - 102010 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=102010 - Other syndrome with lissencephaly as a major feature - - Category - - - - - - 1528 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1528 - Craniotelencephalic dysplasia - - Malformation syndrome - - - - - - - - 2510 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2510 - Micro syndrome - - Malformation syndrome - - - - - - - - 2995 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2995 - Baraitser-Winter cerebrofrontofacial syndrome - - Malformation syndrome - - - - - - - - 452 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=452 - X-linked lissencephaly with abnormal genitalia - - Malformation syndrome - - - - - - - - - - 102011 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=102011 - Lissencephaly type 3 - - Clinical group - - - - - - 2671 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2671 - Neu-Laxova syndrome - - Malformation syndrome - - - - - - 583602 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=583602 - Neu-Laxova syndrome due to phosphoserine aminotransferase deficiency - - Etiological subtype - - - - - - - - 583607 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=583607 - Neu-Laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency - - Etiological subtype - - - - - - - - 583612 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=583612 - Neu-Laxova syndrome due to 3-phosphoserine phosphatase deficiency - - Etiological subtype - - - - - - - - - - 86821 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86821 - Lissencephaly type 3-familial fetal akinesia sequence syndrome - - Malformation syndrome - - - - - - - - 86822 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86822 - Lissencephaly type 3-metacarpal bone dysplasia syndrome - - Malformation syndrome - - - - - - - - - - 171680 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171680 - Lissencephaly due to TUBA1A mutation - - Malformation syndrome - - - - - - - - - - 48652 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=48652 - Phelan-McDermid syndrome - - Malformation syndrome - - - - - - 662172 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662172 - Phelan-McDermid syndrome due to SHANK3 mutation - - Etiological subtype - - - - - - - - 662169 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662169 - Phelan-McDermid syndrome due to 22q13.3 deletion - - Etiological subtype - - - - - - - - - - 50810 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50810 - Microlissencephaly-micromelia syndrome - - Malformation syndrome - - - - - - - - 50811 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50811 - Lipodystrophy-intellectual disability-deafness syndrome - - Disease - - - - - - - - 73223 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73223 - Global developmental delay-osteopenia-ectodermal defect syndrome - - Malformation syndrome - - - - - - - - 73230 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73230 - Ossification anomalies-psychomotor developmental delay syndrome - - Disease - - - - - - - - 75496 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75496 - B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome - - Clinical subtype - - - - - - - - 77299 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77299 - Microphthalmia-brain atrophy syndrome - - Malformation syndrome - - - - - - - - 83472 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83472 - CAMOS syndrome - - Malformation syndrome - - - - - - - - 94063 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94063 - 12q14 microdeletion syndrome - - Malformation syndrome - - - - - - - - 96263 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96263 - 48,XXXY syndrome - - Malformation syndrome - - - - - - - - 96264 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96264 - 49,XXXXY syndrome - - Malformation syndrome - - - - - - - - 1436 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1436 - X-linked skeletal dysplasia-intellectual disability syndrome - - Malformation syndrome - - - - - - - - 79156 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79156 - Seizures-intellectual disability due to hydroxylysinuria syndrome - - Disease - - - - - - - - 88618 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88618 - S-adenosylhomocysteine hydrolase deficiency - - Disease - - - - - - - - 2339 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2339 - Keratosis follicularis-dwarfism-cerebral atrophy syndrome - - Malformation syndrome - - - - - - - - 2556 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2556 - Microphthalmia with linear skin defects syndrome - - Malformation syndrome - - - - - - - - 2750 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2750 - Orofaciodigital syndrome type 1 - - Malformation syndrome - - - - - - - - 2958 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2958 - X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome - - Malformation syndrome - - - - - - - - 3052 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3052 - X-linked intellectual disability-seizures-psoriasis syndrome - - Disease - - - - - - - - 83473 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83473 - Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome - - Malformation syndrome - - - - - - - - 79333 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79333 - COG7-CDG - - Disease - - - - - - - - 2470 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2470 - Matthew-Wood syndrome - - Malformation syndrome - - - - - - - - 36367 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36367 - Distal deletion 1q syndrome - - Malformation syndrome - - - - - - - - 139471 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139471 - Microphthalmia with brain and digit anomalies - - Malformation syndrome - - - - - - - - 79094 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79094 - Grange syndrome - - Malformation syndrome - - - - - - - - 2792 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2792 - Otofaciocervical syndrome - - Malformation syndrome - - - - - - - - 2886 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2886 - TARP syndrome - - Malformation syndrome - - - - - - - - 2662 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2662 - Keipert syndrome - - Malformation syndrome - - - - - - - - 300305 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300305 - 11p15.4 microduplication syndrome - - Malformation syndrome - - - - - - - - 300496 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300496 - Multiple congenital anomalies-hypotonia-seizures syndrome type 2 - - Malformation syndrome - - - - - - - - 300573 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300573 - Polymicrogyria due to TUBB2B mutation - - Malformation syndrome - - - - - - - - 313781 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313781 - 20p13 microdeletion syndrome - - Malformation syndrome - - - - - - - - 313795 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313795 - Jawad syndrome - - Malformation syndrome - - - - - - - - 314034 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314034 - 7p22.1 microduplication syndrome - - Malformation syndrome - - - - - - - - 314575 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314575 - Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome - - Malformation syndrome - - - - - - - - 314585 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314585 - 15q overgrowth syndrome - - Malformation syndrome - - - - - - 1707 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1707 - Distal duplication 15q syndrome - - Etiological subtype - - - - - - - - 314588 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314588 - Distal triplication 15q syndrome - - Etiological subtype - - - - - - - - - - 314679 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314679 - Cerebrofacioarticular syndrome - - Malformation syndrome - - - - - - - - 319171 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319171 - Distal 17p13.1 microdeletion syndrome - - Malformation syndrome - - - - - - - - 319182 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319182 - Wiedemann-Steiner syndrome - - Malformation syndrome - - - - - - - - 431140 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=431140 - X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome - - Malformation syndrome - - - - - - - - 434179 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=434179 - Orofaciodigital syndrome type 14 - - Malformation syndrome - - - - - - - - 435938 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435938 - X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome - - Malformation syndrome - - - - - - - - 436141 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436141 - HIDEA syndrome - - Malformation syndrome - - - - - - - - 438213 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=438213 - PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome - - Disease - - - - - - 314655 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314655 - Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion - - Etiological subtype - - - - - - - - 438216 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=438216 - PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation - - Etiological subtype - - - - - - - - - - 439822 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439822 - PDE4D haploinsufficiency syndrome - - Malformation syndrome - - - - - - - - 444002 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444002 - 11q22.2q22.3 microdeletion syndrome - - Malformation syndrome - - - - - - - - 444051 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444051 - 20q11.2 microdeletion syndrome - - Malformation syndrome - - - - - - - - 444072 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444072 - Cerebellar-facial-dental syndrome - - Malformation syndrome - - - - - - - - 444077 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444077 - Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome - - Malformation syndrome - - - - - - - - 447980 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447980 - 19p13.3 microduplication syndrome - - Malformation syndrome - - - - - - - - 453499 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=453499 - Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome - - Malformation syndrome - - - - - - 352665 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352665 - Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion - - Etiological subtype - - - - - - - - 453504 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=453504 - Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation - - Etiological subtype - - - - - - - - - - 456298 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=456298 - 1p35.2 microdeletion syndrome - - Malformation syndrome - - - - - - - - 456312 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=456312 - Infantile multisystem neurologic-endocrine-pancreatic disease - - Disease - - - - - - - - 457193 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457193 - KAT6-related intellectual disability-craniofacial anomalies-cardiac defects syndrome - - Malformation syndrome - - - - - - - - 457240 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457240 - X-linked intellectual disability-short stature-overweight syndrome - - Malformation syndrome - - - - - - - - 457279 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457279 - Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome - - Malformation syndrome - - - - - - - - 457284 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457284 - Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome - - Malformation syndrome - - - - - - - - 457359 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457359 - Megalencephaly-severe kyphoscoliosis-overgrowth syndrome - - Malformation syndrome - - - - - - - - 457365 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457365 - Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome - - Malformation syndrome - - - - - - - - 457395 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457395 - Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome - - Malformation syndrome - - - - - - - - 457485 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457485 - Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome - - Malformation syndrome - - - - - - - - 459061 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=459061 - Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome - - Malformation syndrome - - - - - - - - 459070 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=459070 - X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome - - Malformation syndrome - - - - - - - - 459074 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=459074 - Corpus callosum agenesis-macrocephaly-hypertelorism syndrome - - Malformation syndrome - - - - - - - - 464282 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464282 - Spastic paraplegia-severe developmental delay-epilepsy syndrome - - Disease - - - - - - - - 464288 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464288 - Short stature-brachydactyly-obesity-global developmental delay syndrome - - Malformation syndrome - - - - - - - - 464306 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464306 - DYRK1A-related intellectual disability syndrome - - Malformation syndrome - - - - - - 268261 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268261 - DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion - - Etiological subtype - - - - - - - - 464311 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464311 - Intellectual disability syndrome due to a DYRK1A point mutation - - Etiological subtype - - - - - - - - - - 464738 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464738 - Basel-Vanagaite-Smirin-Yosef syndrome - - Malformation syndrome - - - - - - - - 466688 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466688 - Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome - - Malformation syndrome - - - - - - - - 466791 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466791 - Macrocephaly-intellectual disability-left ventricular non compaction syndrome - - Malformation syndrome - - - - - - - - 466943 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466943 - WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome - - Malformation syndrome - - - - - - 284169 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284169 - Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion - - Clinical subtype - - - - - - - - 466950 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466950 - Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation - - Clinical subtype - - - - - - - - - - 468678 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=468678 - White-Sutton syndrome - - Disease - - - - - - - - 468699 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=468699 - SLC39A8-CDG - - Disease - - - - - - - - 476126 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=476126 - Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome - - Malformation syndrome - - - - - - - - 477993 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477993 - Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome - - Malformation syndrome - - - - - - - - 480880 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480880 - X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability - - Malformation syndrome - - - - - - - - 480898 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480898 - Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome - - Disease - - - - - - - - 480907 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480907 - X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome - - Malformation syndrome - - - - - - - - 481152 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=481152 - PYCR2-related microcephaly-progressive leukoencephalopathy - - Malformation syndrome - - - - - - - - 485405 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=485405 - 16p12.1p12.3 triplication syndrome - - Malformation syndrome - - - - - - - - 487796 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=487796 - Takenouchi-Kosaki syndrome - - Malformation syndrome - - - - - - - - 487825 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=487825 - Pierpont syndrome - - Malformation syndrome - - - - - - - - 488434 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488434 - Camptodactyly syndrome, Guadalajara type 3 - - Malformation syndrome - - - - - - - - 488618 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488618 - Transketolase deficiency - - Malformation syndrome - - - - - - - - 488627 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488627 - Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome - - Malformation syndrome - - - - - - - - 488632 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488632 - TBCK-related encephalopathy-severe hypotonia-craniofacial dysmorphism syndrome - - Malformation syndrome - - - - - - - - 488642 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488642 - TELO2-related intellectual disability-neurodevelopmental disorder - - Malformation syndrome - - - - - - - - 494344 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=494344 - RERE-related neurodevelopmental syndrome - - Malformation syndrome - - - - - - - - 495818 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=495818 - 9q33.3q34.11 microdeletion syndrome - - Malformation syndrome - - - - - - - - 495875 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=495875 - Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome - - Malformation syndrome - - - - - - - - 496641 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=496641 - Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome - - Malformation syndrome - - - - - - - - 500095 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500095 - Tall stature-intellectual disability-renal anomalies syndrome - - Malformation syndrome - - - - - - - - 500144 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500144 - Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome - - Malformation syndrome - - - - - - - - 500150 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500150 - Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome - - Malformation syndrome - - - - - - - - 500159 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500159 - Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom - - Malformation syndrome - - - - - - - - 500163 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500163 - Witteveen-Kolk syndrome - - Malformation syndrome - - - - - - 94065 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94065 - 15q24 microdeletion syndrome - - Etiological subtype - - - - - - - - 500166 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500166 - SIN3-related intellectual disability syndrome due to a point mutation - - Etiological subtype - - - - - - - - - - 263508 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263508 - COG1-CDG - - Disease - - - - - - - - 1495 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1495 - Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome - - Malformation syndrome - - - - - - - - 1512 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1512 - Crane-Heise syndrome - - Malformation syndrome - - - - - - - - 1514 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1514 - Craniodigital-intellectual disability syndrome - - Malformation syndrome - - - - - - - - 1812 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1812 - Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome - - Malformation syndrome - - - - - - - - 1825 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1825 - Epiphyseal dysplasia-hearing loss-dysmorphism syndrome - - Malformation syndrome - - - - - - - - 2824 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2824 - Paraplegia-intellectual disability-hyperkeratosis syndrome - - Malformation syndrome - - - - - - - - 2044 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2044 - Floating-Harbor syndrome - - Malformation syndrome - - - - - - - - 2059 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2059 - Fryns syndrome - - Malformation syndrome - - - - - - - - 52055 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52055 - Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome - - Malformation syndrome - - - - - - - - 52503 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52503 - X-linked creatine transporter deficiency - - Disease - - - - - - - - 56304 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=56304 - Atelosteogenesis type II - - Malformation syndrome - - - - - - - - 56305 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=56305 - Atelosteogenesis type III - - Malformation syndrome - - - - - - - - 66625 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66625 - Cerebrooculonasal syndrome - - Malformation syndrome - - - - - - - - 66629 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66629 - Goldberg-Shprintzen megacolon syndrome - - Malformation syndrome - - - - - - - - 71267 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71267 - Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome - - Malformation syndrome - - - - - - - - 79113 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79113 - Mandibulofacial dysostosis-microcephaly syndrome - - Malformation syndrome - - - - - - - - 83617 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83617 - Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome - - Malformation syndrome - - - - - - - - 85202 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85202 - Keutel syndrome - - Malformation syndrome - - - - - - - - 85273 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85273 - X-linked intellectual disability, Abidi type - - Malformation syndrome - - - - - - - - 85274 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85274 - Syndromic X-linked intellectual disability 7 - - Malformation syndrome - - - - - - - - 85275 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85275 - Microphthalmia-ankyloblepharon-intellectual disability syndrome - - Malformation syndrome - - - - - - - - 85276 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85276 - X-linked intellectual disability, Armfield type - - Malformation syndrome - - - - - - - - 85278 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85278 - Christianson syndrome - - Malformation syndrome - - - - - - - - 85279 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85279 - KDM5C-related syndromic X-linked intellectual disability - - Malformation syndrome - - - - - - - - 85280 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85280 - X-linked intellectual disability-cubitus valgus-dysmorphism syndrome - - Malformation syndrome - - - - - - - - 85325 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85325 - X-linked intellectual disability, Stevenson type - - Malformation syndrome - - - - - - - - 3063 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3063 - X-linked intellectual disability, Snyder type - - Disease - - - - - - - - 3078 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3078 - Severe X-linked intellectual disability, Gustavson type - - Malformation syndrome - - - - - - - - 3417 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3417 - Van den Bosch syndrome - - Malformation syndrome - - - - - - - - 3454 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3454 - Wieacker-Wolff syndrome - - Malformation syndrome - - - - - - - - 3459 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3459 - Wilson-Turner syndrome - - Malformation syndrome - - - - - - - - 423655 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423655 - ARX-related encephalopathy-brain malformation spectrum - - Clinical group - - - - - - 2508 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2508 - Corpus callosum agenesis-abnormal genitalia syndrome - - Malformation syndrome - - - - - - - - 452 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=452 - X-linked lissencephaly with abnormal genitalia - - Malformation syndrome - - - - - - - - - - 435628 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435628 - Keppen-Lubinsky syndrome - - Malformation syndrome - - - - - - - - 436245 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436245 - Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome - - Disease - - - - - - - - 457205 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457205 - Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome - - Disease - - - - - - - - 457212 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457212 - Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome - - Disease - - - - - - - - 477817 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477817 - PMP22-RAI1 contiguous gene duplication syndrome - - Malformation syndrome - - - - - - - - 500533 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500533 - Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome - - Disease - - - - - - - - 530983 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=530983 - Lamb-Shaffer syndrome - - Disease - - - - - - 313892 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313892 - Developmental and speech delay due to SOX5 deficiency - - Clinical subtype - - - - - - - - 313884 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313884 - 12p12.1 microdeletion syndrome - - Clinical subtype - - - - - - - - - - 544469 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=544469 - PRUNE1-related neurological syndrome - - Malformation syndrome - - - - - - - - 544488 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=544488 - Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome - - Disease - - - - - - - - 1308 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1308 - C syndrome - - Malformation syndrome - - - - - - - - 3055 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3055 - X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome - - Malformation syndrome - - - - - - - - 3079 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3079 - Intellectual disability, Buenos-Aires type - - Malformation syndrome - - - - - - - - 3080 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3080 - Intellectual disability, Wolff type - - Malformation syndrome - - - - - - - - 3101 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3101 - Richieri Costa-da Silva syndrome - - Malformation syndrome - - - - - - - - 3121 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3121 - Ruvalcaba syndrome - - Malformation syndrome - - - - - - - - 3132 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3132 - Say-Barber-Miller syndrome - - Malformation syndrome - - - - - - - - 3134 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3134 - SCARF syndrome - - Malformation syndrome - - - - - - - - 3164 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3164 - Omphalocele syndrome, Shprintzen-Goldberg type - - Malformation syndrome - - - - - - - - 3433 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3433 - Microcephaly-brachydactyly-kyphoscoliosis syndrome - - Malformation syndrome - - - - - - - - 3434 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3434 - MMEP syndrome - - Malformation syndrome - - - - - - - - 3448 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3448 - Weaver-Williams syndrome - - Malformation syndrome - - - - - - - - 3455 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3455 - Wiedemann-Rautenstrauch syndrome - - Malformation syndrome - - - - - - - - 3473 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3473 - Zimmermann-Laband syndrome - - Malformation syndrome - - - - - - - - 1277 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1277 - Brachydactyly-mesomelia-intellectual disability-heart defects syndrome - - Malformation syndrome - - - - - - - - 1778 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1778 - Facial dysmorphism-shawl scrotum-joint laxity syndrome - - Malformation syndrome - - - - - - - - 3074 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3074 - Intellectual disability-short stature-hypertelorism syndrome - - Malformation syndrome - - - - - - - - 2519 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2519 - Microcephaly-seizures-intellectual disability-heart disease syndrome - - Malformation syndrome - - - - - - - - 2898 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2898 - X-linked intellectual disability-plagiocephaly syndrome - - Malformation syndrome - - - - - - - - 2015 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2015 - Cleft palate-short stature-vertebral anomalies syndrome - - Malformation syndrome - - - - - - - - 2427 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2427 - Macrocephaly-short stature-paraplegia syndrome - - Malformation syndrome - - - - - - - - 2058 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2058 - Fryns-Smeets-Thiry syndrome - - Malformation syndrome - - - - - - - - 3207 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3207 - White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome - - Malformation syndrome - - - - - - - - 1130 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1130 - Arachnodactyly-intellectual disability-dysmorphism syndrome - - Malformation syndrome - - - - - - - - 85321 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85321 - Deafness-intellectual disability syndrome, Martin-Probst type - - Malformation syndrome - - - - - - - - 85322 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85322 - X-linked intellectual disability, Pai type - - Malformation syndrome - - - - - - - - 85326 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85326 - X-linked intellectual disability, Stoll type - - Malformation syndrome - - - - - - - - 166035 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166035 - Brachydactyly-short stature-retinitis pigmentosa syndrome - - Malformation syndrome - - - - - - - - 168624 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168624 - Familial scaphocephaly syndrome, McGillivray type - - Malformation syndrome - - - - - - - - 254519 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254519 - Kagami-Ogata syndrome - - Malformation syndrome - - - - - - 96334 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96334 - Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 - - Etiological subtype - - - - - - - - 254528 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254528 - Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion - - Etiological subtype - - - - - - - - 254534 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254534 - Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation - - Etiological subtype - - - - - - - - - - 261323 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261323 - 21q22.11q22.12 microdeletion syndrome - - Malformation syndrome - - - - - - - - 261494 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261494 - Kleefstra syndrome - - Malformation syndrome - - - - - - 96147 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96147 - Kleefstra syndrome due to 9q34 microdeletion - - Etiological subtype - - - - - - - - 261652 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261652 - Kleefstra syndrome due to a point mutation - - Etiological subtype - - - - - - - - - - 280633 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280633 - Multiple congenital anomalies-hypotonia-seizures syndrome - - Malformation syndrome - - - - - - - - 284160 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284160 - 8q21.11 microdeletion syndrome - - Malformation syndrome - - - - - - - - 284180 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284180 - Xp22.13p22.2 duplication syndrome - - Malformation syndrome - - - - - - - - 289522 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289522 - Microtriplication 11q24.1 syndrome - - Malformation syndrome - - - - - - - - 293642 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293642 - Blepharophimosis-intellectual disability syndrome - - Clinical group - - - - - - 1620 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1620 - Distal deletion 3p syndrome - - Malformation syndrome - - - - - - - - 2728 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2728 - Blepharophimosis-intellectual disability syndrome, Ohdo type - - Malformation syndrome - - - - - - - - 3047 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3047 - Blepharophimosis-intellectual disability syndrome, SBBYS type - - Malformation syndrome - - - - - - - - 293707 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293707 - Blepharophimosis-intellectual disability syndrome, MKB type - - Malformation syndrome - - - - - - - - 293725 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293725 - Blepharophimosis-intellectual disability syndrome, Verloes type - - Malformation syndrome - - - - - - - - 637013 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=637013 - SMARCA2-related blepharophimosis-intellectual disability syndrome - - Malformation syndrome - - - - - - - - 700160 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700160 - ADNP-related blepharophimosis-intellectual disability syndrome - - Disease - - - - - - - - - - 293843 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293843 - 3MC syndrome - - Malformation syndrome - - - - - - - - 261584 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261584 - 5q22 microdeletion syndrome - - Disease - - - - - - - - 611247 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=611247 - Pontocerebellar hypoplasia type 11 - - Malformation syndrome - - - - - - - - 53271 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53271 - Muenke syndrome - - Malformation syndrome - - - - - - - - 276432 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276432 - Ogden syndrome - - Malformation syndrome - - - - - - - - 1827 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1827 - Acromelic frontonasal dysplasia - - Malformation syndrome - - - - - - - - 284339 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284339 - Pontocerebellar hypoplasia type 7 - - Malformation syndrome - - - - - - - - 300570 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300570 - Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation - - Disease - - - - - - - - 85194 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85194 - Spondylo-ocular syndrome - - Malformation syndrome - - - - - - - - 642763 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642763 - Autosomal dominant intellectual disability-craniofacial dysmorphism-macrocephaly-hypotonia syndrome due to H1-4 mutation - - Malformation syndrome - - - - - - - - 2067 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2067 - GAPO syndrome - - Malformation syndrome - - - - - - - - 2083 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2083 - Prominent glabella-microcephaly-hypogenitalism syndrome - - Malformation syndrome - - - - - - - - 2712 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2712 - Oculofaciocardiodental syndrome - - Malformation syndrome - - - - - - - - 2714 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2714 - Oculo-palato-cerebral syndrome - - Malformation syndrome - - - - - - - - 2719 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2719 - Oculocerebral hypopigmentation syndrome, Cross type - - Malformation syndrome - - - - - - - - 2720 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2720 - Oculocerebral hypopigmentation syndrome, Preus type - - Malformation syndrome - - - - - - - - 2736 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2736 - Lethal omphalocele-cleft palate syndrome - - Malformation syndrome - - - - - - - - 2743 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2743 - Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome - - Malformation syndrome - - - - - - - - 2920 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2920 - Oliver syndrome - - Malformation syndrome - - - - - - - - 2921 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2921 - Preaxial polydactyly-colobomata-intellectual disability syndrome - - Malformation syndrome - - - - - - - - 3051 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3051 - Nicolaides-Baraitser syndrome - - Malformation syndrome - - - - - - - - 1272 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1272 - Aymé-Gripp syndrome - - Malformation syndrome - - - - - - - - 1129 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1129 - Arachnodactyly-abnormal ossification-intellectual disability syndrome - - Malformation syndrome - - - - - - - - 1383 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1383 - Cataract-deafness-hypogonadism syndrome - - Malformation syndrome - - - - - - - - 1123 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1123 - Caudal appendage-deafness syndrome - - Malformation syndrome - - - - - - - - 2745 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2745 - Opitz GBBB syndrome - - Malformation syndrome - - - - - - - - 3082 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3082 - Intellectual disability-polydactyly-uncombable hair syndrome - - Malformation syndrome - - - - - - - - 3474 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3474 - CHIME syndrome - - Malformation syndrome - - - - - - - - 1246 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1246 - Brachydactyly-nystagmus-cerebellar ataxia syndrome - - Malformation syndrome - - - - - - - - 818 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=818 - Smith-Lemli-Opitz syndrome - - Malformation syndrome - - - - - - - - 48431 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=48431 - Congenital cataracts-facial dysmorphism-neuropathy syndrome - - Malformation syndrome - - - - - - - - 85283 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85283 - X-linked intellectual disability, Miles-Carpenter type - - Malformation syndrome - - - - - - - - 85284 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85284 - BRESEK syndrome - - Malformation syndrome - - - - - - - - 85317 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85317 - X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome - - Malformation syndrome - - - - - - - - 85319 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85319 - X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome - - Malformation syndrome - - - - - - - - 85329 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85329 - X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome - - Malformation syndrome - - - - - - - - 85335 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85335 - Fried syndrome - - Malformation syndrome - - - - - - - - 86818 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86818 - Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome - - Disease - - - - - - - - 87876 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=87876 - Sialidosis type 2 - - Disease - - - - - - 93399 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93399 - Juvenile sialidosis type 2 - - Clinical subtype - - - - - - - - 93400 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93400 - Congenital sialidosis type 2 - - Clinical subtype - - - - - - - - - - 90650 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90650 - Otopalatodigital syndrome type 1 - - Malformation syndrome - - - - - - - - 90652 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90652 - Otopalatodigital syndrome type 2 - - Malformation syndrome - - - - - - - - 93932 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93932 - FG syndrome type 1 - - Disease - - - - - - - - 502434 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=502434 - STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome - - Malformation syndrome - - - - - - - - 505237 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=505237 - Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome - - Malformation syndrome - - - - - - - - 505248 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=505248 - Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders - - Malformation syndrome - - - - - - - - 506307 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=506307 - Stromme syndrome - - Malformation syndrome - - - - - - - - 506358 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=506358 - Gabriele-de Vries syndrome - - Malformation syndrome - - - - - - - - 508488 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508488 - 8q24.3 microdeletion syndrome - - Malformation syndrome - - - - - - - - 508498 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508498 - Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome - - Malformation syndrome - - - - - - - - 508533 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508533 - Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome - - Disease - - - - - - - - 508542 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508542 - Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome - - Disease - - - - - - - - 513456 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=513456 - Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome - - Disease - - - - - - - - 521258 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521258 - Xq25 microduplication syndrome - - Malformation syndrome - - - - - - - - 521426 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521426 - PLAA-associated neurodevelopmental disorder - - Malformation syndrome - - - - - - - - 529665 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=529665 - Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome - - Malformation syndrome - - - - - - - - 529962 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=529962 - 17q24.2 microdeletion syndrome - - Malformation syndrome - - - - - - - - 529965 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=529965 - Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome - - Malformation syndrome - - - - - - - - 544503 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=544503 - RNF13-related severe early-onset epileptic encephalopathy - - Disease - - - - - - - - 556955 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=556955 - Pancreatic agenesis-holoprosencephaly syndrome - - Disease - - - - - - - - 557003 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=557003 - Oculoskeletodental syndrome - - Disease - - - - - - - - 562528 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=562528 - Congenital limbs-face contractures-hypotonia-developmental delay syndrome - - Malformation syndrome - - - - - - - - 562559 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=562559 - Anterior maxillary protrusion-strabismus-intellectual disability syndrome - - Malformation syndrome - - - - - - - - 562569 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=562569 - TMEM94-associated congenital heart defect-facial dysmorphism-developmental delay syndrome - - Malformation syndrome - - - - - - - - 565858 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=565858 - Craniosynostosis-microretrognathia-severe intellectual disability syndrome - - Malformation syndrome - - - - - - - - 572333 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572333 - Blepharophimosis-ptosis-epicanthus inversus syndrome plus - - Malformation syndrome - - - - - - - - 576278 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=576278 - SATB2-associated syndrome - - Malformation syndrome - - - - - - 251028 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251028 - SATB2-associated syndrome due to a chromosomal rearrangement - - Etiological subtype - - - - - - - - 576283 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=576283 - SATB2-associated syndrome due to a pathogenic variant - - Etiological subtype - - - - - - - - - - 580940 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=580940 - QRICH1-related intellectual disability-chondrodysplasia syndrome - - Malformation syndrome - - - - - - - - 589435 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589435 - Spondylometaphyseal dysplasia-corneal dystrophy syndrome - - Malformation syndrome - - - - - - - - 589442 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589442 - Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome - - Malformation syndrome - - - - - - - - 589905 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589905 - PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome - - Disease - - - - - - - - 592570 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=592570 - TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome - - Malformation syndrome - - - - - - - - 592574 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=592574 - Menke-Hennekam syndrome - - Malformation syndrome - - - - - - - - 597738 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=597738 - Luscan-Lumish syndrome - - Malformation syndrome - - - - - - - - 597743 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=597743 - SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome - - Malformation syndrome - - - - - - - - 597749 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=597749 - KAT6B-related multiple congenital anomalies syndrome - - Clinical group - - - - - - 3047 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3047 - Blepharophimosis-intellectual disability syndrome, SBBYS type - - Malformation syndrome - - - - - - - - 85201 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85201 - Genitopatellar syndrome - - Malformation syndrome - - - - - - - - 597746 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=597746 - Blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome - - Malformation syndrome - - - - - - - - - - 598603 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=598603 - Facial dysmorphism-hypertrichosis-epilepsy-intellectual disability/developmental delay-gingival overgrowth syndrome - - Malformation syndrome - - - - - - - - 599082 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=599082 - CHD3-related developmental delay-speech delay-intellectual disability-abnormalities of vision-facial dysmorphism syndrome - - Malformation syndrome - - - - - - - - 600668 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=600668 - CCNK-related neurodevelopmental disorder-severe intellectual disability-facial dysmorphism syndrome - - Disease - - - - - - - - 600731 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=600731 - Clark-Baraitser syndrome - - Malformation syndrome - - - - - - - - 603448 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=603448 - Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome - - Malformation syndrome - - - - - - - - 603684 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=603684 - KLHL7-related Bohring-Opitz-like and Crisponi/Cold-induced sweating-like overlap syndrome - - Malformation syndrome - - - - - - - - 603689 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=603689 - KLHL7-related Bohring-Opitz-like syndrome - - Malformation syndrome - - - - - - - - 138 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=138 - CHARGE syndrome - - Malformation syndrome - - - - - - - - 1358 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1358 - Carey-Fineman-Ziter syndrome - - Malformation syndrome - - - - - - - - 1300 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1300 - Autosomal dominant popliteal pterygium syndrome - - Malformation syndrome - - - - - - - - 1393 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1393 - Cerebrocostomandibular syndrome - - Malformation syndrome - - - - - - - - 1454 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1454 - Joubert syndrome with hepatic defect - - Disease - - - - - - - - 1517 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1517 - Cantú syndrome - - Malformation syndrome - - - - - - - - 1553 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1553 - Curry-Jones syndrome - - Malformation syndrome - - - - - - - - 1662 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1662 - Restrictive dermopathy - - Disease - - - - - - - - 1790 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1790 - Hypomandibular faciocranial dysostosis - - Malformation syndrome - - - - - - - - 1826 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1826 - Frontometaphyseal dysplasia - - Disease - - - - - - - - 2092 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2092 - Focal dermal hypoplasia - - Malformation syndrome - - - - - - - - 672 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=672 - Pallister-Hall syndrome - - Malformation syndrome - - - - - - - - 561 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=561 - Marshall-Smith syndrome - - Malformation syndrome - - - - - - - - 2557 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2557 - Mietens syndrome - - Malformation syndrome - - - - - - - - 2710 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2710 - Oculodentodigital dysplasia - - Malformation syndrome - - - - - - - - 2863 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2863 - Short stature-wormian bones-dextrocardia syndrome - - Malformation syndrome - - - - - - - - 798 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=798 - Schinzel-Giedion syndrome - - Malformation syndrome - - - - - - - - 3138 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3138 - Ulnar-mammary syndrome - - Malformation syndrome - - - - - - - - 675782 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=675782 - Progressive hypotonia-intellectual disability-facial dysmorphism syndrome due to FYVE-defective RBSN - - Disease - - - - - - - - 659387 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=659387 - PRC-2 complex-related overgrowth spectrum - - Clinical group - - - - - - 3447 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3447 - Weaver syndrome - - Malformation syndrome - - - - - - - - 659396 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=659396 - Cohen-Gibson syndrome - - Malformation syndrome - - - - - - - - 659463 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=659463 - Imagawa-Matsumoto syndrome - - Malformation syndrome - - - - - - - - - - 659642 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=659642 - Rauch-Steindl syndrome - - Malformation syndrome - - - - - - - - 659609 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=659609 - Facial dysmorphism-global developmental delay-hypotonia-polymicrogyria syndrome - - Malformation syndrome - - - - - - - - 684305 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=684305 - Neurooculocardiogenitourinary syndrome - - Disease - - - - - - - - 684232 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=684232 - Intellectual disability-épilepsy-dental anomalies-facial dysmorphism syndrome - - Malformation syndrome - - - - - - - - 684216 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=684216 - Intellectual disability-facial dysmorphism-joint hypermobility-hearing loss syndrome - - Malformation syndrome - - - - - - - - 684226 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=684226 - Intellectual disability-hypotonia-facial dysmorphism-macrocephaly syndrome - - Malformation syndrome - - - - - - - - 684742 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=684742 - 2q13 microdeletion syndrome - - Malformation syndrome - - - - - - - - 687695 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=687695 - 10p13-p14 deletion syndrome - - Malformation syndrome - - - - - - - - 686482 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=686482 - BPTF-related intellectual disability-facial dysmorphism-skeletal anomalies syndrome - - Malformation syndrome - - - - - - - - 686488 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=686488 - RNU4-2-related neurodevelopmental disorder-facial dysmorphism-white matter abnormalities-short stature syndrome - - Malformation syndrome - - - - - - - - 686495 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=686495 - MADD-related developmental delay-endocrine dysfunction-hypohemoglobinemia syndrome - - Disease - - - - - - - - 685017 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=685017 - Combined immunodeficiency due to TBX1 deficiency - - Disease - - - - - - - - 688642 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=688642 - Turnpenny-Fry syndrome - - Malformation syndrome - - - - - - - - 689422 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=689422 - Okur-Chung neurodevelopmental syndrome - - Malformation syndrome - - - - - - - - 689397 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=689397 - Poirier-Bienvenu neurodevelopmental syndrome - - Malformation syndrome - - - - - - - - 689829 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=689829 - Microphthalmia-motor delay-language delay-brain anomalies-diaphragmatic hernia syndrome - - Disease - - - - - - - - 689408 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=689408 - Shashi-Pena syndrome - - Malformation syndrome - - - - - - - - 695611 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=695611 - 3q26q28 deletion syndrome - - Malformation syndrome - - - - - - - - 692193 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=692193 - CHAMP1-related intellectual disability-facial dysmorphism-behavioral abnormalities syndrome - - Malformation syndrome - - - - - - - - 694304 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=694304 - ZMYND11-related developmental delay-speech delay-seizures-behavioral abnormalities-craniofacial dysmorphism syndrome - - Disease - - - - - - 687424 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=687424 - ZMYND11-related developmental delay-speech delay-seizures-behavioral abnormalities-craniofacial dysmorphism syndrome due to 10p15.3 microdeletion - - Etiological subtype - - - - - - - - 694308 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=694308 - ZMYND11-related developmental delay-speech delay-seizures-behavioral abnormalities-craniofacial dysmorphism syndrome due to a point mutation - - Etiological subtype - - - - - - - - - - 693549 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=693549 - Facial dysmorphism-Intellectual disability-rhombencephalosynapsis syndrome - - Malformation syndrome - - - - - - - - 694956 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=694956 - Intellectual disability-lymphoid hypertrophy-macrocephaly syndrome - - Malformation syndrome - - - - - - - - 694946 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=694946 - Alazami-Yuan syndrome - - Malformation syndrome - - - - - - - - 694937 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=694937 - Intellectual disability-peripheral neuropathy-corpus callosum abnormalities syndrome due to nudix hydrolase 2 deficiency - - Malformation syndrome - - - - - - - - 697760 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=697760 - Intellectual disability-nasal speech-craniofacial dysmorphism syndrome - - Malformation syndrome - - - - - - 289513 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289513 - 12q15q21 microdeletion syndrome - - Etiological subtype - - - - - - - - 697764 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=697764 - Intellectual disability-nasal speech-craniofacial dysmorphism syndrome due to CNOT2 mutation - - Etiological subtype - - - - - - - - - - 697067 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=697067 - Global developmental delay-intellectual disability-microcephaly-short stature-brain iron accumulation syndrome - - Malformation syndrome - - - - - - - - 698085 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=698085 - Global developmental delay-intellectual disability-facial dysmorphism-pseudo-Pelger-Huët anomaly syndrome - - Malformation syndrome - - - - - - - - 698090 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=698090 - Ophthalmological abnormalities-facial dysmorphism-intellectual disability syndrome - - Malformation syndrome - - - - - - - - 699835 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699835 - Cataract-combined malonic and methylmalonic aciduria-intellectual disability syndrome - - Malformation syndrome - - - - - - - - 699844 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699844 - Microcephaly-corpus callosum hypoplasia-simplified gyral pattern-intellectual disability syndrome - - Malformation syndrome - - - - - - - - 700325 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700325 - NKAP-related intellectual disability-facial dysmorphism-marfanoid habitus-scoliosis syndrome - - Malformation syndrome - - - - - - - - 1014 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1014 - Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome - - Disease - - - - - - - - 1064 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1064 - Aniridia-renal agenesis-psychomotor retardation syndrome - - Malformation syndrome - - - - - - - - 1891 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1891 - Intellectual disability-spasticity-ectrodactyly syndrome - - Malformation syndrome - - - - - - - - 1964 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1964 - Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome - - Malformation syndrome - - - - - - - - 1970 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1970 - Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome - - Malformation syndrome - - - - - - - - 1973 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1973 - Faciocardiorenal syndrome - - Malformation syndrome - - - - - - - - 2008 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2008 - Acrocardiofacial syndrome - - Malformation syndrome - - - - - - - - 2328 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2328 - Kapur-Toriello syndrome - - Malformation syndrome - - - - - - - - 2332 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2332 - KBG syndrome - - Malformation syndrome - - - - - - - - 2985 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2985 - Pseudoprogeria syndrome - - Malformation syndrome - - - - - - - - 2988 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2988 - Pterygium colli-intellectual disability-digital anomalies syndrome - - Malformation syndrome - - - - - - - - 3010 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3010 - Qazi-Markouizos syndrome - - Disease - - - - - - - - 3019 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3019 - Ramon syndrome - - Malformation syndrome - - - - - - - - 3038 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3038 - Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome - - Malformation syndrome - - - - - - - - 3041 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3041 - Intellectual disability-balding-patella luxation-acromicria syndrome - - Malformation syndrome - - - - - - - - 3270 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3270 - Radioulnar synostosis-developmental delay-hypotonia syndrome - - Malformation syndrome - - - - - - - - 3293 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3293 - Telecanthus-hypertelorism-strabismus-pes cavus syndrome - - Malformation syndrome - - - - - - - - 3304 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3304 - Fallot complex-intellectual disability-growth delay syndrome - - Malformation syndrome - - - - - - - - 3363 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3363 - Trichomegaly-retina pigmentary degeneration-dwarfism syndrome - - Malformation syndrome - - - - - - - - 3369 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3369 - Trigonocephaly-short stature-developmental delay syndrome - - Malformation syndrome - - - - - - - - 3404 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3404 - Ulbright-Hodes syndrome - - Malformation syndrome - - - - - - - - 3409 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3409 - Urban-Rogers-Meyer syndrome - - Malformation syndrome - - - - - - - - 3412 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3412 - VACTERL with hydrocephalus - - Malformation syndrome - - - - - - - - 73246 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73246 - Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome - - Malformation syndrome - - - - - - - - 75389 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75389 - Brain malformation-congenital heart disease-postaxial polydactyly syndrome - - Malformation syndrome - - - - - - - - 94066 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94066 - Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia - - Malformation syndrome - - - - - - - - 141333 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141333 - Biemond syndrome type 2 - - Disease - - - - - - - - 217017 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217017 - Zechi-Ceide syndrome - - Malformation syndrome - - - - - - - - 217340 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217340 - 17q21.31 microduplication syndrome - - Malformation syndrome - - - - - - - - 217346 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217346 - 19q13.11 microdeletion syndrome - - Malformation syndrome - - - - - - - - 217377 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217377 - Microduplication Xp11.22p11.23 syndrome - - Malformation syndrome - - - - - - - - 217385 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217385 - 17p13.3 microduplication syndrome - - Malformation syndrome - - - - - - - - 221120 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221120 - Pseudoaminopterin syndrome - - Malformation syndrome - - - - - - - - 228402 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228402 - 2q23.1 microdeletion syndrome - - Malformation syndrome - - - - - - - - 228426 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228426 - Syndromic multisystem autoimmune disease due to Itch deficiency - - Disease - - - - - - - - 324416 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324416 - Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome - - Malformation syndrome - - - - - - - - 324540 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324540 - Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome - - Malformation syndrome - - - - - - - - 324761 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324761 - Microcephalic primordial dwarfism - - Clinical group - - - - - - 808 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=808 - Seckel syndrome - - Malformation syndrome - - - - - - - - 2554 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2554 - Ear-patella-short stature syndrome - - Malformation syndrome - - - - - - - - 2643 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2643 - Microcephalic primordial dwarfism, Toriello type - - Malformation syndrome - - - - - - - - 2636 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2636 - Microcephalic osteodysplastic primordial dwarfism types I and III - - Malformation syndrome - - - - - - - - 2637 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2637 - Microcephalic osteodysplastic primordial dwarfism type II - - Malformation syndrome - - - - - - - - 85172 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85172 - Microcephalic osteodysplastic dysplasia, Saul-Wilson type - - Disease - - - - - - - - 319671 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319671 - Alazami syndrome - - Malformation syndrome - - - - - - - - 319675 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319675 - Microcephalic primordial dwarfism, Dauber type - - Malformation syndrome - - - - - - - - 329228 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329228 - Microcephalic primordial dwarfism due to ZNF335 deficiency - - Malformation syndrome - - - - - - - - 468631 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=468631 - Microcephalic cortical malformations-short stature due to RTTN deficiency - - Malformation syndrome - - - - - - - - 658595 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=658595 - DNMT3A-related microcephalic dwarfism - - Malformation syndrome - - - - - - - - 572761 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572761 - DONSON-related microcephaly-short stature-limb abnormalities spectrum - - Malformation syndrome - - - - - - 572768 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572768 - Microcephaly-micromelia syndrome - - Clinical subtype - - - - - - - - 572773 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572773 - Microcephaly-short stature-limb abnormalities syndrome - - Clinical subtype - - - - - - - - - - - - 329224 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329224 - Schuurs-Hoeijmakers syndrome - - Malformation syndrome - - - - - - - - 329332 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329332 - Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome - - Malformation syndrome - - - - - - - - 329802 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329802 - 5p13 microduplication syndrome - - Malformation syndrome - - - - - - - - 352490 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352490 - Autism spectrum disorder due to AUTS2 deficiency - - Disease - - - - - - - - 352577 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352577 - Bainbridge-Ropers syndrome - - Disease - - - - - - - - 352587 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352587 - Focal epilepsy-intellectual disability-cerebro-cerebellar malformation - - Disease - - - - - - - - 357001 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357001 - 19p13.13 microdeletion syndrome - - Malformation syndrome - - - - - - - - 357175 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357175 - Short ulna-dysmorphism-hypotonia-intellectual disability syndrome - - Malformation syndrome - - - - - - - - 363444 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363444 - THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome - - Malformation syndrome - - - - - - - - 352530 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352530 - Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome - - Disease - - - - - - - - 363528 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363528 - Intellectual disability-strabismus syndrome - - Disease - - - - - - - - 369939 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369939 - Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome - - Malformation syndrome - - - - - - - - 391372 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391372 - FOXP1 Syndrome - - Malformation syndrome - - - - - - - - 391408 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391408 - Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome - - Disease - - - - - - - - 401973 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401973 - MEND syndrome - - Malformation syndrome - - - - - - - - 870 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=870 - Down syndrome - - Malformation syndrome - - - - - - - - 908 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=908 - Fragile X syndrome - - Malformation syndrome - - - - - - - - 904 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=904 - Williams syndrome - - Malformation syndrome - - - - - - - - 280 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280 - Wolf-Hirschhorn syndrome - - Malformation syndrome - - - - - - - - 783 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=783 - Rubinstein-Taybi syndrome - - Malformation syndrome - - - - - - 353277 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353277 - Rubinstein-Taybi syndrome due to CREBBP mutations - - Etiological subtype - - - - - - - - 353281 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353281 - Rubinstein-Taybi syndrome due to 16p13.3 microdeletion - - Etiological subtype - - - - - - - - 353284 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353284 - Rubinstein-Taybi syndrome due to EP300 haploinsufficiency - - Etiological subtype - - - - - - - - - - 893 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=893 - WAGR syndrome - - Malformation syndrome - - - - - - - - 192 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=192 - Coffin-Lowry syndrome - - Malformation syndrome - - - - - - - - 199 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199 - Cornelia de Lange syndrome - - Malformation syndrome - - - - - - - - 2162 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2162 - Holoprosencephaly - - Malformation syndrome - - - - - - 93924 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93924 - Lobar holoprosencephaly - - Clinical subtype - - - - - - - - 93925 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93925 - Alobar holoprosencephaly - - Clinical subtype - - - - - - - - 93926 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93926 - Midline interhemispheric variant of holoprosencephaly - - Clinical subtype - - - - - - - - 220386 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220386 - Semilobar holoprosencephaly - - Clinical subtype - - - - - - - - 280195 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280195 - Septopreoptic holoprosencephaly - - Clinical subtype - - - - - - - - - - 1465 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1465 - Coffin-Siris syndrome - - Malformation syndrome - - - - - - - - 1947 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1947 - Northern epilepsy - - Clinical subtype - - - - - - - - 2773 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2773 - Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome - - Malformation syndrome - - - - - - - - 3085 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3085 - Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome - - Malformation syndrome - - - - - - - - 819 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=819 - Smith-Magenis syndrome - - Malformation syndrome - - - - - - - - 36 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36 - Acrocallosal syndrome - - Malformation syndrome - - - - - - - - 193 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=193 - Cohen syndrome - - Malformation syndrome - - - - - - - - 1488 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1488 - Cooper-Jabs syndrome - - Malformation syndrome - - - - - - - - 235 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=235 - Dubowitz syndrome - - Malformation syndrome - - - - - - - - 2233 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2233 - Hypogonadism-mitral valve prolapse-intellectual disability syndrome - - Disease - - - - - - - - 502 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=502 - Trichorhinophalangeal syndrome type 2 - - Malformation syndrome - - - - - - - - 2377 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2377 - Laurence-Moon syndrome - - Malformation syndrome - - - - - - - - 3071 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3071 - Costello syndrome - - Malformation syndrome - - - - - - - - 1762 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1762 - Proximal Xq28 duplication syndrome - - Malformation syndrome - - - - - - - - 1948 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1948 - Epilepsy-microcephaly-skeletal dysplasia syndrome - - Malformation syndrome - - - - - - - - 1951 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1951 - Epilepsy-telangiectasia syndrome - - Disease - - - - - - - - 7 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=7 - 3C syndrome - - Malformation syndrome - - - - - - - - 990 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=990 - Agnathia-holoprosencephaly-situs inversus syndrome - - Malformation syndrome - - - - - - - - 2107 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2107 - Hall-Riggs syndrome - - Malformation syndrome - - - - - - - - 2115 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2115 - Harrod syndrome - - Malformation syndrome - - - - - - - - 2117 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2117 - Hartsfield syndrome - - Malformation syndrome - - - - - - - - 2136 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2136 - Hennekam syndrome - - Malformation syndrome - - - - - - - - 2139 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2139 - Hernández-Aguirre Negrete syndrome - - Malformation syndrome - - - - - - - - 2278 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2278 - Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome - - Malformation syndrome - - - - - - - - 2282 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2282 - Dysmorphism-short stature-deafness-difference of sex development syndrome - - Malformation syndrome - - - - - - - - 2315 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2315 - Johanson-Blizzard syndrome - - Malformation syndrome - - - - - - - - 2316 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2316 - Johnson neuroectodermal syndrome - - Malformation syndrome - - - - - - - - 2322 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2322 - Kabuki syndrome - - Malformation syndrome - - - - - - - - 2323 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2323 - Sanjad-Sakati syndrome - - Malformation syndrome - - - - - - - - 2489 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2489 - Upper limb defect-eye and ear abnormalities syndrome - - Malformation syndrome - - - - - - - - 3044 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3044 - Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome - - Malformation syndrome - - - - - - - - 3186 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3186 - Holoprosencephaly-radial heart renal anomalies syndrome - - Malformation syndrome - - - - - - - - 3199 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3199 - Stimmler syndrome - - Malformation syndrome - - - - - - - - 3219 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3219 - Fountain syndrome - - Malformation syndrome - - - - - - - - 3224 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3224 - Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome - - Malformation syndrome - - - - - - - - 3242 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3242 - Renpenning syndrome - - Malformation syndrome - - - - - - 93945 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93945 - X-linked intellectual disability, Porteous type - - Clinical subtype - - - - - - - - 93946 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93946 - Hamel cerebro-palato-cardiac syndrome - - Clinical subtype - - - - - - - - 93947 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93947 - X-linked intellectual disability, Golabi-Ito-Hall type - - Clinical subtype - - - - - - - - 93950 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93950 - X-linked intellectual disability, Sutherland-Haan type - - Clinical subtype - - - - - - - - - - 3255 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3255 - Filippi syndrome - - Malformation syndrome - - - - - - - - 363611 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363611 - CTCF-related neurodevelopmental disorder - - Disease - - - - - - - - 363659 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363659 - 20q11.2 microduplication syndrome - - Malformation syndrome - - - - - - - - 363680 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363680 - 2p13.2 microdeletion syndrome - - Malformation syndrome - - - - - - - - 363686 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363686 - Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome - - Disease - - - - - - - - 363705 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363705 - Craniofaciofrontodigital syndrome - - Disease - - - - - - - - 363741 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363741 - Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome - - Disease - - - - - - - - 364028 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=364028 - X-linked intellectual disability due to GRIA3 mutations - - Disease - - - - - - - - 364577 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=364577 - Intellectual disability-brachydactyly-Pierre Robin syndrome - - Malformation syndrome - - - - - - - - 369837 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369837 - Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome - - Malformation syndrome - - - - - - - - 369891 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369891 - Developmental delay-facial dysmorphism syndrome due to MED13L deficiency - - Malformation syndrome - - - - - - - - 369950 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369950 - Intellectual disability-seizures-macrocephaly-obesity syndrome - - Disease - - - - - - - - 370010 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370010 - Intellectual disability-facial dysmorphism-hand anomalies syndrome - - Malformation syndrome - - - - - - - - 370927 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370927 - SSR4-CDG - - Disease - - - - - - - - 370930 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370930 - XYLT1-CDG - - Disease - - - - - - - - 371364 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=371364 - Hypotonia-speech impairment-severe cognitive delay syndrome - - Disease - - - - - - 700333 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700333 - Hypotonia-speech impairment-severe cognitive delay syndrome due to UNC80 deficiency - - Clinical subtype - - - - - - - - 700336 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700336 - Hypotonia-speech impairment-severe cognitive delay syndrome due to NALCN deficiency - - Clinical subtype - - - - - - - - - - 391307 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391307 - Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome - - Malformation syndrome - - - - - - - - 397612 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397612 - Macrocephaly-developmental delay syndrome - - Malformation syndrome - - - - - - - - 397709 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397709 - Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome - - Malformation syndrome - - - - - - - - 397951 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397951 - Microcephaly-thin corpus callosum-intellectual disability syndrome - - Disease - - - - - - - - 397973 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397973 - Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome - - Disease - - - - - - - - 401923 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401923 - 9q31.1q31.3 microdeletion syndrome - - Malformation syndrome - - - - - - - - 401935 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401935 - 14q24.1q24.3 microdeletion syndrome - - Malformation syndrome - - - - - - - - 404443 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404443 - Tatton-Brown-Rahman syndrome - - Malformation syndrome - - - - - - - - 404448 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404448 - ADNP syndrome - - Malformation syndrome - - - - - - - - 404451 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404451 - FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome - - Malformation syndrome - - - - - - - - 404473 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404473 - Intellectual disability-peripheral spasticity-exudative vitreoretinopathy syndrome - - Malformation syndrome - - - - - - - - 411986 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411986 - Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome - - Malformation syndrome - - - - - - - - 412035 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=412035 - 13q12.3 microdeletion syndrome - - Malformation syndrome - - - - - - - - 420561 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420561 - Temple-Baraitser syndrome - - Disease - - - - - - - - 420794 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420794 - Cono-spondylar dysplasia - - Malformation syndrome - - - - - - - - 423306 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423306 - Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome - - Malformation syndrome - - - - - - - - 567 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=567 - 22q11.2 deletion syndrome - - Malformation syndrome - - - - - - - - 739 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=739 - Prader-Willi syndrome - - Disease - - - - - - 98754 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98754 - Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 - - Etiological subtype - - - - - - - - 98793 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98793 - Prader-Willi syndrome due to paternal 15q11q13 deletion - - Etiological subtype - - - - - - 177901 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=177901 - Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 - - Etiological subtype - - - - - - - - 177904 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=177904 - Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 - - Etiological subtype - - - - - - - - - - 177907 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=177907 - Prader-Willi syndrome due to translocation - - Etiological subtype - - - - - - - - 177910 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=177910 - Prader-Willi syndrome due to imprinting mutation - - Etiological subtype - - - - - - - - - - 648 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=648 - Noonan syndrome - - Malformation syndrome - - - - - - - - 568 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=568 - Microphthalmia, Lenz type - - Malformation syndrome - - - - - - - - 915 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=915 - Aarskog-Scott syndrome - - Malformation syndrome - - - - - - - - 2135 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2135 - Cutaneous mastocytosis-deafness-microtia syndrome - - Malformation syndrome - - - - - - - - 570 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=570 - Moebius syndrome - - Disease - - - - - - - - 813 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=813 - Silver-Russell syndrome - - Disease - - - - - - 96182 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96182 - Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 - - Etiological subtype - - - - - - - - 231137 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231137 - Silver-Russell syndrome due to 7p11.2p13 microduplication - - Etiological subtype - - - - - - - - 231140 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231140 - Silver-Russell syndrome due to an imprinting defect of 11p15 - - Etiological subtype - - - - - - - - 231144 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231144 - Silver-Russell syndrome due to 11p15 microduplication - - Etiological subtype - - - - - - - - 231147 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231147 - Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 - - Etiological subtype - - - - - - - - 397590 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397590 - Silver-Russell syndrome due to a point mutation - - Etiological subtype - - - - - - - - - - 821 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=821 - Sotos syndrome - - Disease - - - - - - - - 920 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=920 - Ablepharon macrostomia syndrome - - Malformation syndrome - - - - - - - - 989 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=989 - Hypoglossia-hypodactyly syndrome - - Malformation syndrome - - - - - - - - 1307 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1307 - Distal limb deficiencies-micrognathia syndrome - - Malformation syndrome - - - - - - - - 1318 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1318 - Campomelia, Cumming type - - Malformation syndrome - - - - - - - - 2108 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2108 - Hallermann-Streiff syndrome - - Malformation syndrome - - - - - - - - 2109 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2109 - Hallermann-Streiff-like syndrome - - Malformation syndrome - - - - - - - - 2143 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2143 - Donnai-Barrow syndrome - - Malformation syndrome - - - - - - - - 2180 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2180 - Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome - - Malformation syndrome - - - - - - - - 2306 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2306 - Isotretinoin-like syndrome - - Malformation syndrome - - - - - - - - 2514 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2514 - Autosomal dominant primary microcephaly - - Etiological subtype - - - - - - - - 2701 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2701 - Noonan syndrome-like disorder with loose anagen hair - - Malformation syndrome - - - - - - - - 3163 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3163 - SHORT syndrome - - Malformation syndrome - - - - - - - - 3338 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3338 - Toriello-Carey syndrome - - Malformation syndrome - - - - - - - - 2326 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2326 - Kallmann syndrome-heart disease syndrome - - Malformation syndrome - - - - - - - - 198 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=198 - Occipital horn syndrome - - Disease - - - - - - - - 42775 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=42775 - PHACE syndrome - - Malformation syndrome - - - - - - - - 46627 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=46627 - Char syndrome - - Malformation syndrome - - - - - - - - 69737 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69737 - Bosley-Salih-Alorainy syndrome - - Malformation syndrome - - - - - - - - 77298 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77298 - Anophthalmia/microphthalmia-esophageal atresia syndrome - - Malformation syndrome - - - - - - - - 221139 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221139 - Combined immunodeficiency with facio-oculo-skeletal anomalies - - Disease - - - - - - - - 228410 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228410 - Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome - - Malformation syndrome - - - - - - 664404 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=664404 - 6q25.1 microdeletion syndrome - - Etiological subtype - - - - - - - - 664401 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=664401 - Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome due to TAB2 mutation - - Etiological subtype - - - - - - - - - - 353298 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353298 - Roifman syndrome - - Disease - - - - - - - - 398073 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398073 - Prader-Willi-like syndrome - - Clinical group - - - - - - 633028 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=633028 - CPE-related Prader-Willi-like syndrome - - Disease - - - - - - - - 171829 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171829 - 6q16 microdeletion syndrome - - Disease - - - - - - - - 398079 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398079 - SIM1-related Prader-Willi-like syndrome - - Disease - - - - - - - - 398069 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398069 - Schaaf-Yang syndrome - - Disease - - - - - - - - - - 401986 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401986 - 1p31p32 microdeletion syndrome - - Malformation syndrome - - - - - - - - 420179 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420179 - Malan overgrowth syndrome - - Malformation syndrome - - - - - - - - 950 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=950 - Acrodysostosis - - Malformation syndrome - - - - - - - - 337 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=337 - Fibrodysplasia ossificans progressiva - - Disease - - - - - - - - 220493 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220493 - Joubert syndrome with ocular defect - - Malformation syndrome - - - - - - - - 2512 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2512 - Autosomal recessive primary microcephaly - - Etiological subtype - - - - - - - - 1052 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1052 - Mosaic variegated aneuploidy syndrome - - Malformation syndrome - - - - - - - - 2318 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2318 - Joubert syndrome with oculorenal defect - - Malformation syndrome - - - - - - - - 35107 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35107 - Desmosterolosis - - Disease - - - - - - - - 239 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=239 - Dyggve-Melchior-Clausen disease - - Disease - - - - - - - - 1493 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1493 - Vici syndrome - - Malformation syndrome - - - - - - - - 84 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=84 - Fanconi anemia - - Malformation syndrome - - - - - - - - 87 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=87 - Apert syndrome - - Malformation syndrome - - - - - - - - 647 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=647 - Nijmegen breakage syndrome - - Malformation syndrome - - - - - - - - 220497 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220497 - Joubert syndrome with renal defect - - Malformation syndrome - - - - - - - - 912 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=912 - Zellweger syndrome - - Disease - - - - - - - - 46059 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=46059 - Lathosterolosis - - Disease - - - - - - - - 1496 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1496 - Corpus callosum agenesis-neuronopathy syndrome - - Disease - - - - - - - - 2209 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2209 - Maternal phenylketonuria syndrome - - Malformation syndrome - - - - - - - - 411493 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411493 - Pontocerebellar hypoplasia type 10 - - Malformation syndrome - - - - - - - - 217335 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217335 - RIN2 syndrome - - Malformation syndrome - - - - - - - - 974 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=974 - Adams-Oliver syndrome - - Malformation syndrome - - - - - - - - 228390 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228390 - Frontonasal dysplasia-alopecia-genital anomalies syndrome - - Malformation syndrome - - - - - - - - 1667 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1667 - Wolcott-Rallison syndrome - - Disease - - - - - - - - 3103 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3103 - Roberts syndrome - - Malformation syndrome - - - - - - - - 811 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=811 - Shwachman-Diamond syndrome - - Disease - - - - - - - - 613267 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=613267 - Pontocerebellar hypoplasia type 13 - - Malformation syndrome - - - - - - - - 613274 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=613274 - Pontocerebellar hypoplasia type 14 - - Malformation syndrome - - - - - - - - 619233 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=619233 - Hereditary persistence of fetal hemoglobin-intellectual disability syndrome - - Disease - - - - - - - - 633004 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=633004 - KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome - - Disease - - - - - - - - 633035 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=633035 - Intellectual disability-early-onset cataract-microcephaly syndrome - - Malformation syndrome - - - - - - - - 632603 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=632603 - Mesomelic dysplasia-digital anomalies-intellectual disability syndrome - - Malformation syndrome - - - - - - - - 642675 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642675 - CHD8 overgrowth syndrome - - Disease - - - - - - - - 662234 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662234 - Neurodevelopmental delay-congenital heart defects-intellectual disability syndrome - - Malformation syndrome - - - - - - - - 1520 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1520 - Craniofrontonasal dysplasia - - Malformation syndrome - - - - - - - - 1568 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1568 - X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome - - Malformation syndrome - - - - - - - - 847 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=847 - X-linked alpha-thalassemia-intellectual disability syndrome - - Malformation syndrome - - - - - - - - 373 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=373 - Simpson-Golabi-Behmel syndrome - - Malformation syndrome - - - - - - - - 709 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=709 - Peters plus syndrome - - Malformation syndrome - - - - - - - - 776 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=776 - Lujan-Fryns syndrome - - Malformation syndrome - - - - - - - - 1473 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1473 - Uveal coloboma-cleft lip and palate-intellectual disability - - Malformation syndrome - - - - - - - - 1078 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1078 - Thumb stiffness-brachydactyly-intellectual disability syndrome - - Malformation syndrome - - - - - - - - 1110 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1110 - Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome - - Malformation syndrome - - - - - - - - 1131 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1131 - X-linked mandibulofacial dysostosis - - Malformation syndrome - - - - - - - - 1184 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1184 - Ataxia-photosensitivity-short stature syndrome - - Malformation syndrome - - - - - - - - 1193 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1193 - Atkin-Flaitz syndrome - - Malformation syndrome - - - - - - - - 109 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=109 - Bannayan-Riley-Ruvalcaba syndrome - - Clinical subtype - - - - - - - - 1229 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1229 - Congenital intrauterine infection-like syndrome - - Malformation syndrome - - - - - - - - 1236 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1236 - Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome - - Malformation syndrome - - - - - - - - 1252 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1252 - Blepharonasofacial malformation syndrome - - Malformation syndrome - - - - - - - - 1261 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1261 - Bonnemann-Meinecke-Reich syndrome - - Malformation syndrome - - - - - - - - 127 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=127 - Borjeson-Forssman-Lehmann syndrome - - Malformation syndrome - - - - - - - - 1270 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1270 - Bowen-Conradi syndrome - - Malformation syndrome - - - - - - - - 1296 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1296 - Lambert syndrome - - Malformation syndrome - - - - - - - - 1299 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1299 - Branchioskeletogenital syndrome - - Malformation syndrome - - - - - - - - 1305 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1305 - Feingold syndrome - - Malformation syndrome - - - - - - 391641 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391641 - Feingold syndrome type 1 - - Clinical subtype - - - - - - - - 391646 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391646 - Feingold syndrome type 2 - - Clinical subtype - - - - - - - - - - 1321 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1321 - Camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome - - Malformation syndrome - - - - - - - - 1340 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1340 - Cardiofaciocutaneous syndrome - - Malformation syndrome - - - - - - - - 1355 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1355 - Congenital heart defect-round face-developmental delay syndrome - - Malformation syndrome - - - - - - - - 1381 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1381 - Cataract-intellectual disability-anal atresia-urinary defects syndrome - - Malformation syndrome - - - - - - - - 1387 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1387 - Cataract-intellectual disability-hypogonadism syndrome - - Malformation syndrome - - - - - - - - 1388 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1388 - Catel-Manzke syndrome - - Malformation syndrome - - - - - - - - 1389 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1389 - Cortical blindness-intellectual disability-polydactyly syndrome - - Malformation syndrome - - - - - - - - 1394 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1394 - Cerebrofaciothoracic dysplasia - - Malformation syndrome - - - - - - - - 1399 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1399 - Richards-Rundle syndrome - - Malformation syndrome - - - - - - - - 1548 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1548 - Cryptorchidism-arachnodactyly-intellectual disability syndrome - - Malformation syndrome - - - - - - - - 1777 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1777 - Temtamy syndrome - - Malformation syndrome - - - - - - - - 1786 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1786 - Acrofacial dysostosis, Catania type - - Malformation syndrome - - - - - - - - 1788 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1788 - Acrofacial dysostosis, Rodríguez type - - Malformation syndrome - - - - - - - - 2804 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2804 - W syndrome - - Malformation syndrome - - - - - - - - 2865 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2865 - Short stature-webbed neck-heart disease syndrome - - Malformation syndrome - - - - - - - - 2871 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2871 - Pfeiffer-Palm-Teller syndrome - - Malformation syndrome - - - - - - - - 2872 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2872 - Cardiocranial syndrome, Pfeiffer type - - Malformation syndrome - - - - - - - - 2896 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2896 - Pitt-Hopkins syndrome - - Malformation syndrome - - - - - - - - 85286 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85286 - X-linked intellectual disability, Shashi type - - Malformation syndrome - - - - - - - - 85287 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85287 - X-linked intellectual disability, Siderius type - - Malformation syndrome - - - - - - - - 85293 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85293 - X-linked intellectual disability, Cabezas type - - Malformation syndrome - - - - - - - - 96125 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96125 - Distal deletion 6p syndrome - - Malformation syndrome - - - - - - - - 96169 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96169 - Koolen-De Vries syndrome - - Malformation syndrome - - - - - - 363958 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363958 - 17q21.31 microdeletion syndrome - - Etiological subtype - - - - - - - - 363965 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363965 - Koolen-De Vries syndrome due to a point mutation - - Etiological subtype - - - - - - - - - - 97297 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97297 - Bohring-Opitz syndrome - - Malformation syndrome - - - - - - - - 199318 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199318 - 15q13.3 microdeletion syndrome - - Malformation syndrome - - - - - - - - 1239 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1239 - Behr syndrome - - Malformation syndrome - - - - - - - - 627 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=627 - Nance-Horan syndrome - - Malformation syndrome - - - - - - - - 140 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140 - Campomelic dysplasia - - Malformation syndrome - - - - - - - - 1106 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1106 - Microphthalmia with limb anomalies - - Malformation syndrome - - - - - - - - 83 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83 - Antley-Bixler syndrome - - Malformation syndrome - - - - - - 63269 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=63269 - Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis - - Clinical subtype - - - - - - - - 596008 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=596008 - Antley-Bixler syndrome without genital anomaly or disorder of steroidogenesis - - Clinical subtype - - - - - - - - - - 1292 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1292 - Brachymorphism-onychodysplasia-dysphalangism syndrome - - Malformation syndrome - - - - - - - - 72 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=72 - Angelman syndrome - - Malformation syndrome - - - - - - 98794 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98794 - Angelman syndrome due to maternal 15q11q13 deletion - - Etiological subtype - - - - - - - - 98795 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98795 - Angelman syndrome due to paternal uniparental disomy of chromosome 15 - - Etiological subtype - - - - - - - - 411511 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411511 - Angelman syndrome due to a point mutation - - Etiological subtype - - - - - - - - 411515 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411515 - Angelman syndrome due to imprinting defect in 15q11-q13 - - Etiological subtype - - - - - - - - - - 2983 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2983 - Difference of sex development-intellectual disability syndrome - - Disease - - - - - - - - 191 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=191 - Cockayne syndrome - - Disease - - - - - - 1466 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1466 - COFS syndrome - - Clinical subtype - - - - - - - - 90321 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90321 - Cockayne syndrome type 1 - - Clinical subtype - - - - - - - - 90322 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90322 - Cockayne syndrome type 2 - - Clinical subtype - - - - - - - - 90324 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90324 - Cockayne syndrome type 3 - - Clinical subtype - - - - - - - - - - 10 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=10 - 48,XXYY syndrome - - Malformation syndrome - - - - - - - - 1438 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1438 - Ring chromosome 10 syndrome - - Malformation syndrome - - - - - - - - 1713 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1713 - 17p11.2 microduplication syndrome - - Malformation syndrome - - - - - - - - 1001 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1001 - 2q37 microdeletion syndrome - - Malformation syndrome - - - - - - - - 1005 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1005 - Alopecia-contractures-dwarfism-intellectual disability syndrome - - Malformation syndrome - - - - - - - - 1067 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1067 - Aniridia-ptosis-intellectual disability-familial obesity syndrome - - Malformation syndrome - - - - - - - - 1068 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1068 - Aniridia-intellectual disability syndrome - - Malformation syndrome - - - - - - - - 1484 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1484 - Contractures-ectodermal dysplasia-cleft lip/palate syndrome - - Malformation syndrome - - - - - - - - 1809 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1809 - Hidrotic ectodermal dysplasia, Halal type - - Malformation syndrome - - - - - - - - 1858 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1858 - Skeletal dysplasia-epilepsy-short stature syndrome - - Malformation syndrome - - - - - - - - 1816 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1816 - Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome - - Malformation syndrome - - - - - - - - 2031 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2031 - Hepatic fibrosis-renal cysts-intellectual disability syndrome - - Malformation syndrome - - - - - - - - 2065 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2065 - Galloway-Mowat syndrome - - Malformation syndrome - - - - - - - - 2090 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2090 - GMS syndrome - - Malformation syndrome - - - - - - - - 2101 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2101 - Grubben-de Cock-Borghgraef syndrome - - Malformation syndrome - - - - - - - - 2149 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2149 - Nodular neuronal heterotopia - - Morphological anomaly - - - - - - 98892 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98892 - Periventricular nodular heterotopia - - Clinical subtype - - - - - - - - 101029 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101029 - Sub-cortical nodular heterotopia - - Clinical subtype - - - - - - - - 101030 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101030 - Subependymal nodular heterotopia - - Clinical subtype - - - - - - - - - - 2266 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2266 - Hypotrichosis-intellectual disability, Lopes type - - Disease - - - - - - - - 2324 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2324 - Osteopenia-intellectual disability-sparse hair syndrome - - Malformation syndrome - - - - - - - - 2479 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2479 - Megalocornea-intellectual disability syndrome - - Malformation syndrome - - - - - - - - - - - - 183536 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183536 - Genetic congenital limb malformation - - Category - - - - - - 109011 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=109011 - Non-syndromic limb malformation - - Category - - - - - - 86789 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86789 - Isolated patella aplasia/hypoplasia - - Morphological anomaly - - - - - - - - 93457 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93457 - Non-syndromic limb reduction defect - - Category - - - - - - 498457 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498457 - Non-syndromic longitudinal limb defect - - Category - - - - - - 2130 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2130 - Non-syndromic hemimelia - - Clinical group - - - - - - 93320 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93320 - Isolated ulnar hemimelia - - Morphological anomaly - - - - - - - - 93321 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93321 - Isolated radial hemimelia - - Morphological anomaly - - - - - - - - 93322 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93322 - Isolated tibial hemimelia - - Morphological anomaly - - - - - - - - 93323 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93323 - Isolated fibular hemimelia - - Morphological anomaly - - - - - - - - - - 294988 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294988 - Isolated hypoplasia of thumb - - Morphological anomaly - - - - - - - - - - 498461 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498461 - Non-syndromic terminal transverse limb defect - - Category - - - - - - 498491 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498491 - Non-syndromic complete hemimelia - - Category - - - - - - 294979 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294979 - Isolated absence of both forearm and hand - - Morphological anomaly - - - - - - - - 294981 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294981 - Isolated absence of both lower leg and foot - - Morphological anomaly - - - - - - - - - - 294983 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294983 - Isolated acheiria - - Morphological anomaly - - - - - - - - 294986 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294986 - Isolated apodia - - Morphological anomaly - - - - - - - - 294925 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294925 - Non-syndromic amelia - - Clinical group - - - - - - 294967 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294967 - Isolated amelia of upper limb - - Morphological anomaly - - - - - - - - 294969 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294969 - Isolated amelia of lower limb - - Morphological anomaly - - - - - - - - 294971 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294971 - Isolated tetra-amelia - - Morphological anomaly - - - - - - - - - - 973 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=973 - Isolated absence/hypoplasia of fingers excluding thumb, unilateral - - Morphological anomaly - - - - - - - - 931 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=931 - Isolated acheiropodia - - Morphological anomaly - - - - - - - - - - 294927 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294927 - Non-syndromic intercalary limb defects - - Clinical group - - - - - - 294973 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294973 - Isolated humeral agenesis/hypoplasia - - Morphological anomaly - - - - - - - - 294975 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294975 - Isolated absence of upper arm and forearm with hand present - - Morphological anomaly - - - - - - - - 294977 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294977 - Isolated absence of thigh and lower leg with foot present - - Morphological anomaly - - - - - - - - 1987 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1987 - Isolated femoral agenesis/hypoplasia - - Morphological anomaly - - - - - - - - 633228 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=633228 - Isolated proximal femoral focal deficiency - - Morphological anomaly - - - - - - - - 667589 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=667589 - Isolated congenital femoral bifurcation - - Morphological anomaly - - - - - - - - - - - - 93458 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93458 - Non-syndromic polydactyly, syndactyly and/or hyperphalangy - - Category - - - - - - 2913 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2913 - Non-syndromic polydactyly - - Category - - - - - - 498464 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498464 - Non-syndromic preaxial polydactyly - - Category - - - - - - 93336 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93336 - Polydactyly of a triphalangeal thumb - - Morphological anomaly - - - - - - - - 93337 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93337 - Polydactyly of an index finger - - Morphological anomaly - - - - - - - - 93338 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93338 - Polysyndactyly - - Morphological anomaly - - - - - - - - 93339 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93339 - Polydactyly of a biphalangeal thumb and/or hallux - - Morphological anomaly - - - - - - - - - - 498467 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498467 - Non-syndromic postaxial polydactyly - - Category - - - - - - 93334 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93334 - Postaxial polydactyly type A - - Morphological anomaly - - - - - - - - 93335 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93335 - Postaxial polydactyly type B - - Morphological anomaly - - - - - - - - - - 498470 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498470 - Non-syndromic complex polydactyly - - Category - - - - - - 498494 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498494 - Mirror-image polydactyly - - Morphological anomaly - - - - - - - - 295004 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295004 - Central polydactyly - - Morphological anomaly - - - - - - - - - - - - 90025 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90025 - Non-syndromic syndactyly - - Category - - - - - - 2498 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2498 - Syndactyly type 8 - - Morphological anomaly - - - - - - - - 93402 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93402 - Syndactyly type 1 - - Morphological anomaly - - - - - - 295187 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295187 - Zygodactyly type 1 - - Clinical subtype - - - - - - - - 295189 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295189 - Zygodactyly type 2 - - Clinical subtype - - - - - - - - 295191 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295191 - Zygodactyly type 3 - - Clinical subtype - - - - - - - - 295193 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295193 - Zygodactyly type 4 - - Clinical subtype - - - - - - - - - - 93403 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93403 - Syndactyly type 2 - - Morphological anomaly - - - - - - 295195 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295195 - Synpolydactyly type 1 - - Clinical subtype - - - - - - - - 295197 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295197 - Synpolydactyly type 2 - - Clinical subtype - - - - - - - - 295199 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295199 - Synpolydactyly type 3 - - Clinical subtype - - - - - - - - - - 93404 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93404 - Syndactyly type 3 - - Morphological anomaly - - - - - - - - 93405 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93405 - Syndactyly type 4 - - Morphological anomaly - - - - - - - - 93406 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93406 - Syndactyly type 5 - - Morphological anomaly - - - - - - - - 157801 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157801 - Mesoaxial synostotic syndactyly with phalangeal reduction - - Morphological anomaly - - - - - - - - 295012 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295012 - Syndactyly type 6 - - Morphological anomaly - - - - - - - - - - 295002 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295002 - Isolated hyperphalangy - - Morphological anomaly - - - - - - - - - - 157808 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157808 - Isolated pseudoarthrosis of the limbs - - Morphological anomaly - - - - - - 295018 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295018 - Congenital pseudoarthrosis of the tibia - - Clinical subtype - - - - - - - - 295020 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295020 - Congenital pseudoarthrosis of the femur - - Clinical subtype - - - - - - - - 295022 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295022 - Congenital pseudoarthrosis of the fibula - - Clinical subtype - - - - - - - - 295024 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295024 - Congenital pseudoarthrosis of the radius - - Clinical subtype - - - - - - - - 295026 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295026 - Congenital pseudoarthrosis of the ulna - - Clinical subtype - - - - - - - - - - 294944 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294944 - Congenital deformities of limbs - - Category - - - - - - 178382 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178382 - Congenital vertical talus - - Morphological anomaly - - - - - - 295201 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295201 - Congenital vertical talus, unilateral - - Clinical subtype - - - - - - - - 295203 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295203 - Congenital vertical talus, bilateral - - Clinical subtype - - - - - - - - - - 294947 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294947 - Congenital deformities of fingers - - Category - - - - - - 295014 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295014 - Familial isolated clinodactyly of fingers - - Morphological anomaly - - - - - - - - 295016 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295016 - Camptodactyly of fingers - - Morphological anomaly - - - - - - - - - - - - 294949 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294949 - Non-syndromic joint formation defects - - Category - - - - - - 3248 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3248 - Isolated distal symphalangism - - Morphological anomaly - - - - - - - - 3265 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3265 - Isolated humero-radial synostosis - - Morphological anomaly - - - - - - - - 3266 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3266 - Isolated humero-radio-ulnar synostosis - - Morphological anomaly - - - - - - - - 3269 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3269 - Isolated radio-ulnar synostosis - - Morphological anomaly - - - - - - - - 94056 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94056 - Isolated humero-ulnar synostosis - - Morphological anomaly - - - - - - - - 295028 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295028 - Isolated tibio-fibular synostosis - - Morphological anomaly - - - - - - - - - - 294951 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294951 - Congenital joint dislocations - - Category - - - - - - 295030 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295030 - True congenital shoulder dislocation - - Morphological anomaly - - - - - - - - 295032 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295032 - Isolated congenital radial head dislocation - - Morphological anomaly - - - - - - 295225 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295225 - Congenital elbow dislocation, unilateral - - Clinical subtype - - - - - - - - 295227 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295227 - Congenital elbow dislocation, bilateral - - Clinical subtype - - - - - - - - - - 295034 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295034 - Congenital knee dislocation - - Morphological anomaly - - - - - - 295229 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295229 - Congenital genu recurvatum - - Clinical subtype - - - - - - - - 295232 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295232 - Congenital genu flexum - - Clinical subtype - - - - - - - - - - 295036 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295036 - Congenital patella dislocation - - Morphological anomaly - - - - - - - - - - 294953 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294953 - Non-syndromic limb overgrowth - - Category - - - - - - 295044 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295044 - Macrodactyly of fingers - - Morphological anomaly - - - - - - 295239 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295239 - Macrodactyly of fingers, unilateral - - Clinical subtype - - - - - - - - 295241 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295241 - Macrodactyly of fingers, bilateral - - Clinical subtype - - - - - - - - - - 295047 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295047 - Macrodactyly of toes - - Morphological anomaly - - - - - - 295243 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295243 - Macrodactyly of toes, unilateral - - Clinical subtype - - - - - - - - 295245 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295245 - Macrodactyly of toes, bilateral - - Clinical subtype - - - - - - - - - - 295049 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295049 - Upper limb hypertrophy - - Morphological anomaly - - - - - - - - 295051 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295051 - Lower limb hypertrophy - - Morphological anomaly - - - - - - - - - - 364198 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=364198 - Bipartite talus - - Morphological anomaly - - - - - - - - - - 404577 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404577 - Genetic syndrome with limb malformations as a major feature - - Category - - - - - - 465824 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=465824 - Fetal encasement syndrome - - Malformation syndrome - - - - - - - - 1325 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1325 - Camptodactyly-taurinuria syndrome - - Malformation syndrome - - - - - - - - 1927 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1927 - Emery-Nelson syndrome - - Malformation syndrome - - - - - - - - 2251 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2251 - Thumb deformity-alopecia-pigmentation anomaly syndrome - - Malformation syndrome - - - - - - - - 3294 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3294 - Extensor tendons of finger anomalies - - Malformation syndrome - - - - - - - - 69028 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69028 - Dysostosis with brachydactyly - - Category - - - - - - 498451 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498451 - Dysostosis with brachydactyly without extraskeletal manifestations - - Category - - - - - - 1570 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1570 - Symbrachydactyly of hands and feet - - Malformation syndrome - - - - - - - - 1275 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1275 - Brachydactyly-elbow wrist dysplasia syndrome - - Malformation syndrome - - - - - - - - 633211 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=633211 - Preaxial digit brachydactyly-webbed fingers - - Malformation syndrome - - - - - - - - 93396 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93396 - Brachydactyly type A2 - - Malformation syndrome - - - - - - - - 93394 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93394 - Brachydactyly type A4 - - Malformation syndrome - - - - - - - - 93382 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93382 - Brachydactyly type A6 - - Malformation syndrome - - - - - - - - 93397 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93397 - Brachydactyly type A7 - - Malformation syndrome - - - - - - - - 93383 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93383 - Brachydactyly type B - - Malformation syndrome - - - - - - 140908 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140908 - Brachydactyly type B2 - - Clinical subtype - - - - - - - - 572385 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572385 - Brachydactyly type B1 - - Clinical subtype - - - - - - - - - - 498602 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498602 - Sugarman brachydactyly - - Morphological anomaly - - - - - - - - 2565 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2565 - Mononen-Karnes-Senac syndrome - - Malformation syndrome - - - - - - - - 85169 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85169 - Familial digital arthropathy-brachydactyly - - Malformation syndrome - - - - - - - - 93388 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93388 - Brachydactyly type A1 - - Malformation syndrome - - - - - - - - 93384 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93384 - Brachydactyly type C - - Malformation syndrome - - - - - - - - 93387 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93387 - Brachydactyly type E - - Malformation syndrome - - - - - - - - 1487 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1487 - Cooks syndrome - - Malformation syndrome - - - - - - - - 1319 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1319 - Camptobrachydactyly - - Malformation syndrome - - - - - - - - - - 498454 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498454 - Dysostosis with brachydactyly with extraskeletal manifestations - - Category - - - - - - 1278 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1278 - Brachydactyly-preaxial hallux varus syndrome - - Malformation syndrome - - - - - - - - 589608 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589608 - Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies - - Disease - - - - - - - - 166035 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166035 - Brachydactyly-short stature-retinitis pigmentosa syndrome - - Malformation syndrome - - - - - - - - 238744 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238744 - Mammary-digital-nail syndrome - - Malformation syndrome - - - - - - - - 783 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=783 - Rubinstein-Taybi syndrome - - Malformation syndrome - - - - - - 353277 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353277 - Rubinstein-Taybi syndrome due to CREBBP mutations - - Etiological subtype - - - - - - - - 353281 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353281 - Rubinstein-Taybi syndrome due to 16p13.3 microdeletion - - Etiological subtype - - - - - - - - 353284 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353284 - Rubinstein-Taybi syndrome due to EP300 haploinsufficiency - - Etiological subtype - - - - - - - - - - 1465 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1465 - Coffin-Siris syndrome - - Malformation syndrome - - - - - - - - 1001 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1001 - 2q37 microdeletion syndrome - - Malformation syndrome - - - - - - - - 247262 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247262 - Hyperphosphatasia-intellectual disability syndrome - - Disease - - - - - - - - 1276 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1276 - Brachydactyly-arterial hypertension syndrome - - Malformation syndrome - - - - - - - - 363417 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363417 - Temtamy preaxial brachydactyly syndrome - - Malformation syndrome - - - - - - - - 1078 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1078 - Thumb stiffness-brachydactyly-intellectual disability syndrome - - Malformation syndrome - - - - - - - - 1292 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1292 - Brachymorphism-onychodysplasia-dysphalangism syndrome - - Malformation syndrome - - - - - - - - 3433 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3433 - Microcephaly-brachydactyly-kyphoscoliosis syndrome - - Malformation syndrome - - - - - - - - 1305 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1305 - Feingold syndrome - - Malformation syndrome - - - - - - 391641 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391641 - Feingold syndrome type 1 - - Clinical subtype - - - - - - - - 391646 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391646 - Feingold syndrome type 2 - - Clinical subtype - - - - - - - - - - 2438 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2438 - Hand-foot-genital syndrome - - Malformation syndrome - - - - - - - - 974 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=974 - Adams-Oliver syndrome - - Malformation syndrome - - - - - - - - 1295 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1295 - Brachytelephalangy-dysmorphism-Kallmann syndrome - - Malformation syndrome - - - - - - - - 2911 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2911 - Poland syndrome - - Malformation syndrome - - - - - - - - 2956 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2956 - Acrodysplasia scoliosis - - Malformation syndrome - - - - - - - - 52056 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52056 - Ulnar/fibula ray defect-brachydactyly syndrome - - Malformation syndrome - - - - - - - - 1858 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1858 - Skeletal dysplasia-epilepsy-short stature syndrome - - Malformation syndrome - - - - - - - - 2946 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2946 - Brachydactyly-long thumb syndrome - - Malformation syndrome - - - - - - - - - - - - 93459 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93459 - Syndrome with synostosis or other joint formation defect - - Category - - - - - - 75496 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75496 - B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome - - Clinical subtype - - - - - - - - 1228 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1228 - Banki syndrome - - Malformation syndrome - - - - - - - - 1275 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1275 - Brachydactyly-elbow wrist dysplasia syndrome - - Malformation syndrome - - - - - - - - 1412 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1412 - Tarsal-carpal coalition syndrome - - Malformation syndrome - - - - - - - - 2760 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2760 - OSLAM syndrome - - Malformation syndrome - - - - - - - - 2900 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2900 - Leri pleonosteosis - - Malformation syndrome - - - - - - - - 3237 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3237 - Multiple synostoses syndrome - - Malformation syndrome - - - - - - - - 3246 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3246 - Symphalangism with multiple anomalies of hands and feet - - Malformation syndrome - - - - - - - - 3250 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3250 - Proximal symphalangism - - Malformation syndrome - - - - - - - - 3268 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3268 - Radioulnar synostosis-microcephaly-scoliosis syndrome - - Malformation syndrome - - - - - - - - 3270 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3270 - Radioulnar synostosis-developmental delay-hypotonia syndrome - - Malformation syndrome - - - - - - - - 71289 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71289 - Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome - - Malformation syndrome - - - - - - - - 3466 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3466 - WT limb-blood syndrome - - Disease - - - - - - - - - - 109007 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=109007 - Arthrogryposis syndrome - - Category - - - - - - 97120 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97120 - Distal arthrogryposis - - Clinical group - - - - - - 3200 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3200 - Arthrogryposis-ectodermal dysplasia syndrome - - Malformation syndrome - - - - - - - - 562528 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=562528 - Congenital limbs-face contractures-hypotonia-developmental delay syndrome - - Malformation syndrome - - - - - - - - 2840 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2840 - Pelvic dysplasia-arthrogryposis of lower limbs syndrome - - Malformation syndrome - - - - - - - - 1146 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1146 - Distal arthrogryposis type 1 - - Malformation syndrome - - - - - - - - 1147 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1147 - Sheldon-Hall syndrome - - Malformation syndrome - - - - - - - - 1154 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1154 - Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome - - Malformation syndrome - - - - - - - - 2053 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2053 - Freeman-Sheldon syndrome - - Malformation syndrome - - - - - - - - 1144 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1144 - Arthrogryposis-like hand anomaly-sensorineural deafness syndrome - - Malformation syndrome - - - - - - - - 115 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=115 - Congenital contractural arachnodactyly - - Malformation syndrome - - - - - - - - 376 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=376 - Gordon syndrome - - Malformation syndrome - - - - - - - - 3377 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3377 - Trismus-pseudocamptodactyly syndrome - - Malformation syndrome - - - - - - - - 2953 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2953 - Musculocontractural Ehlers-Danlos syndrome - - Disease - - - - - - - - 65720 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65720 - Arthrogryposis-severe scoliosis syndrome - - Malformation syndrome - - - - - - - - 251515 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251515 - Distal arthrogryposis type 10 - - Malformation syndrome - - - - - - - - 329457 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329457 - Distal arthrogryposis type 5D - - Disease - - - - - - - - 370943 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370943 - Autism spectrum disorder-epilepsy-arthrogryposis syndrome - - Disease - - - - - - - - 65743 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65743 - Autosomal dominant multiple pterygium syndrome - - Malformation syndrome - - - - - - - - - - 294060 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294060 - Multiple pterygium syndrome - - Clinical group - - - - - - 2990 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2990 - Autosomal recessive multiple pterygium syndrome - - Malformation syndrome - - - - - - - - 33108 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33108 - Lethal multiple pterygium syndrome - - Malformation syndrome - - - - - - - - 65743 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65743 - Autosomal dominant multiple pterygium syndrome - - Malformation syndrome - - - - - - - - 79447 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79447 - X-linked lethal multiple pterygium syndrome - - Malformation syndrome - - - - - - - - - - 294963 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294963 - Popliteal pterygium syndrome - - Clinical group - - - - - - 1234 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1234 - Bartsocas-Papas syndrome - - Malformation syndrome - - - - - - - - 1300 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1300 - Autosomal dominant popliteal pterygium syndrome - - Malformation syndrome - - - - - - - - - - 294965 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294965 - Lethal congenital contracture syndrome - - Clinical group - - - - - - 1486 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1486 - Lethal congenital contracture syndrome type 1 - - Malformation syndrome - - - - - - - - 137776 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137776 - Lethal congenital contracture syndrome type 2 - - Malformation syndrome - - - - - - - - 137783 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137783 - Lethal congenital contracture syndrome type 3 - - Malformation syndrome - - - - - - - - - - 2077 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2077 - German syndrome - - Malformation syndrome - - - - - - - - 1037 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1037 - Arthrogryposis multiplex congenita - - Clinical group - - - - - - 2547 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2547 - Microphthalmia-microtia-fetal akinesia syndrome - - Malformation syndrome - - - - - - - - 1143 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1143 - Neurogenic arthrogryposis multiplex congenita - - Disease - - - - - - - - 1145 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1145 - Infantile-onset X-linked spinal muscular atrophy - - Disease - - - - - - - - 1149 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1149 - Kuskokwim syndrome - - Malformation syndrome - - - - - - - - 1150 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1150 - Arthrogryposis multiplex congenita-whistling face syndrome - - Malformation syndrome - - - - - - - - 2215 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2215 - Multiple pterygium-malignant hyperthermia syndrome - - Malformation syndrome - - - - - - - - 2461 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2461 - Marden-Walker syndrome - - Malformation syndrome - - - - - - - - 2697 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2697 - Arthrogryposis-renal dysfunction-cholestasis syndrome - - Malformation syndrome - - - - - - - - 2952 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2952 - Adducted thumbs-arthrogryposis syndrome, Christian type - - Malformation syndrome - - - - - - - - 2460 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2460 - Van den Ende-Gupta syndrome - - Malformation syndrome - - - - - - - - 3454 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3454 - Wieacker-Wolff syndrome - - Malformation syndrome - - - - - - - - 1485 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1485 - Arthrogryposis-hyperkeratosis syndrome, lethal form - - Malformation syndrome - - - - - - - - 2680 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2680 - Hypomyelination neuropathy-arthrogryposis syndrome - - Malformation syndrome - - - - - - - - 53696 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53696 - Arthrogryposis-anterior horn cell disease syndrome - - Malformation syndrome - - - - - - - - 319332 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319332 - Autosomal recessive myogenic arthrogryposis multiplex congenita - - Disease - - - - - - - - 439897 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439897 - Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome - - Malformation syndrome - - - - - - - - 994 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=994 - Fetal akinesia deformation sequence - - Malformation syndrome - - - - - - - - 210163 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210163 - Congenital lethal myopathy, Compton-North type - - Disease - - - - - - - - 611256 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=611256 - Pontocerebellar hypoplasia type 12 - - Malformation syndrome - - - - - - - - 498693 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498693 - MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome - - Disease - - - - - - - - 610569 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=610569 - KIAA1109-related early lethal congenital brain malformations-arthrogryposis syndrome - - Disease - - - - - - - - 664923 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=664923 - Congenital arthrogryposis-microcephaly-facial dysmorphism-severe neurodevelopmental delay syndrome - - Malformation syndrome - - - - - - - - 486811 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=486811 - Prenatal-onset spinal muscular atrophy with congenital bone fractures - - Disease - - - - - - - - - - - - 199315 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199315 - Familial clubfoot with or without associated lower limb anomalies - - Malformation syndrome - - - - - - 238578 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238578 - Familial clubfoot due to 17q23.1q23.2 microduplication - - Etiological subtype - - - - - - - - 293144 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293144 - Familial clubfoot due to 5q31 microdeletion - - Etiological subtype - - - - - - - - 293150 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293150 - Familial clubfoot due to PITX1 point mutation - - Etiological subtype - - - - - - - - - - 228184 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228184 - Heart-hand syndrome - - Category - - - - - - 392 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=392 - Holt-Oram syndrome - - Malformation syndrome - - - - - - - - 1342 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1342 - Heart-hand syndrome type 3 - - Malformation syndrome - - - - - - - - 1350 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1350 - Heart-hand syndrome type 2 - - Malformation syndrome - - - - - - - - 2946 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2946 - Brachydactyly-long thumb syndrome - - Malformation syndrome - - - - - - - - 168796 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168796 - Heart-hand syndrome, Slovenian type - - Malformation syndrome - - - - - - - - 228190 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228190 - Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome - - Malformation syndrome - - - - - - - - 319340 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319340 - Carney complex-trismus-pseudocamptodactyly syndrome - - Disease - - - - - - - - - - 294957 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294957 - Dysostosis with combined reduction defects of upper and lower limbs - - Category - - - - - - 1118 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1118 - Fibular aplasia-ectrodactyly syndrome - - Malformation syndrome - - - - - - - - 1121 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1121 - Radial deficiency-tibial hypoplasia syndrome - - Malformation syndrome - - - - - - - - 1122 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1122 - Ulnar hypoplasia-split foot syndrome - - Malformation syndrome - - - - - - - - 1986 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1986 - Gollop-Wolfgang complex - - Malformation syndrome - - - - - - - - 2019 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2019 - Femur-fibula-ulna complex - - Malformation syndrome - - - - - - - - 3329 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3329 - Tibial aplasia-ectrodactyly syndrome - - Malformation syndrome - - - - - - - - - - 294959 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294959 - Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy - - Category - - - - - - 658805 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=658805 - Greig cephalopolysyndactyly-contiguous gene syndrome - - Malformation syndrome - - - - - - - - 567502 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=567502 - B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome - - Disease - - - - - - - - 85203 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85203 - Acropectoral syndrome - - Malformation syndrome - - - - - - - - 93409 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93409 - Brachydactyly-syndactyly, Zhao type - - Malformation syndrome - - - - - - - - 140952 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140952 - Syndactyly-telecanthus-anogenital and renal malformations syndrome - - Malformation syndrome - - - - - - - - 140997 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140997 - Orofaciodigital syndrome - - Clinical group - - - - - - 2750 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2750 - Orofaciodigital syndrome type 1 - - Malformation syndrome - - - - - - - - 2751 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2751 - Orofaciodigital syndrome type 2 - - Malformation syndrome - - - - - - - - 2753 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2753 - Orofaciodigital syndrome type 4 - - Malformation syndrome - - - - - - - - 2754 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2754 - Orofaciodigital syndrome type 6 - - Malformation syndrome - - - - - - - - 2755 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2755 - Orofaciodigital syndrome type 8 - - Malformation syndrome - - - - - - - - 2919 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2919 - Orofaciodigital syndrome type 5 - - Malformation syndrome - - - - - - - - 141000 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141000 - Orofaciodigital syndrome type 11 - - Malformation syndrome - - - - - - - - 141007 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141007 - Orofaciodigital syndrome type 9 - - Malformation syndrome - - - - - - - - 434179 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=434179 - Orofaciodigital syndrome type 14 - - Malformation syndrome - - - - - - - - 508501 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508501 - Oral-facial-digital syndrome with short stature and brachymesophalangy - - Malformation syndrome - - - - - - - - - - 357332 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357332 - Syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome - - Malformation syndrome - - - - - - - - 369979 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369979 - Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome - - Malformation syndrome - - - - - - - - 420584 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420584 - Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome - - Malformation syndrome - - - - - - - - 857 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=857 - Townes-Brocks syndrome - - Malformation syndrome - - - - - - - - 564 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=564 - Meckel syndrome - - Malformation syndrome - - - - - - - - 36 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36 - Acrocallosal syndrome - - Malformation syndrome - - - - - - - - 957 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=957 - Acropectorovertebral dysplasia - - Malformation syndrome - - - - - - - - 1003 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1003 - Scalp defects-postaxial polydactyly syndrome - - Malformation syndrome - - - - - - - - 1113 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1113 - Aphalangy-syndactyly-microcephaly syndrome - - Malformation syndrome - - - - - - - - 1388 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1388 - Catel-Manzke syndrome - - Malformation syndrome - - - - - - - - 1527 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1527 - Craniosynostosis, Philadelphia type - - Malformation syndrome - - - - - - - - 1566 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1566 - Dandy-Walker malformation-postaxial polydactyly syndrome - - Malformation syndrome - - - - - - - - 1757 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1757 - Fibular dimelia-diplopodia syndrome - - Malformation syndrome - - - - - - - - 1892 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1892 - Ectrodactyly-polydactyly syndrome - - Malformation syndrome - - - - - - - - 1986 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1986 - Gollop-Wolfgang complex - - Malformation syndrome - - - - - - - - 380 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=380 - Greig cephalopolysyndactyly syndrome - - Malformation syndrome - - - - - - - - 2110 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2110 - Hallux varus-preaxial polysyndactyly syndrome - - Malformation syndrome - - - - - - - - 672 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=672 - Pallister-Hall syndrome - - Malformation syndrome - - - - - - - - 2363 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2363 - Lacrimoauriculodentodigital syndrome - - Malformation syndrome - - - - - - - - 2378 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2378 - Laurin-Sandrow syndrome - - Malformation syndrome - - - - - - - - 2854 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2854 - Fuhrmann syndrome - - Malformation syndrome - - - - - - - - 2917 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2917 - Polydactyly-myopia syndrome - - Malformation syndrome - - - - - - - - 2920 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2920 - Oliver syndrome - - Malformation syndrome - - - - - - - - 2935 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2935 - Crossed polysyndactyly - - Malformation syndrome - - - - - - - - 2947 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2947 - Triphalangeal thumbs-brachyectrodactyly syndrome - - Malformation syndrome - - - - - - - - 2957 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2957 - Guttmacher syndrome - - Malformation syndrome - - - - - - - - 3004 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3004 - Mirror polydactyly-vertebral segmentation-limbs defects syndrome - - Malformation syndrome - - - - - - - - 3168 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3168 - Sillence syndrome - - Malformation syndrome - - - - - - - - 3172 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3172 - Eyebrow duplication-syndactyly syndrome - - Malformation syndrome - - - - - - - - 3246 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3246 - Symphalangism with multiple anomalies of hands and feet - - Malformation syndrome - - - - - - - - 3255 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3255 - Filippi syndrome - - Malformation syndrome - - - - - - - - 3258 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3258 - Cenani-Lenz syndrome - - Malformation syndrome - - - - - - - - 3328 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3328 - Absent tibia-polydactyly-arachnoid cyst syndrome - - Malformation syndrome - - - - - - - - 3259 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3259 - Syndactyly-polydactyly-ear lobe syndrome - - Malformation syndrome - - - - - - - - 818 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=818 - Smith-Lemli-Opitz syndrome - - Malformation syndrome - - - - - - - - 71271 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71271 - Split hand-split foot-deafness syndrome - - Malformation syndrome - - - - - - - - 2492 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2492 - FATCO syndrome - - Malformation syndrome - - - - - - - - 476119 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=476119 - Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome - - Malformation syndrome - - - - - - - - 488232 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488232 - Split-foot malformation-mesoaxial polydactyly syndrome - - Malformation syndrome - - - - - - - - - - 404574 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404574 - Genetic syndrome with limb reduction defects - - Category - - - - - - 1891 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1891 - Intellectual disability-spasticity-ectrodactyly syndrome - - Malformation syndrome - - - - - - - - 392 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=392 - Holt-Oram syndrome - - Malformation syndrome - - - - - - - - 1326 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1326 - Camptodactyly syndrome, Guadalajara type 2 - - Malformation syndrome - - - - - - - - 2492 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2492 - FATCO syndrome - - Malformation syndrome - - - - - - - - 238744 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238744 - Mammary-digital-nail syndrome - - Malformation syndrome - - - - - - - - 329319 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329319 - Thrombocythemia with distal limb defects - - Disease - - - - - - - - 199 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199 - Cornelia de Lange syndrome - - Malformation syndrome - - - - - - - - 3320 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3320 - Thrombocytopenia-absent radius syndrome - - Malformation syndrome - - - - - - - - 84 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=84 - Fanconi anemia - - Malformation syndrome - - - - - - - - 3103 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3103 - Roberts syndrome - - Malformation syndrome - - - - - - - - 974 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=974 - Adams-Oliver syndrome - - Malformation syndrome - - - - - - - - 978 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=978 - ADULT syndrome - - Malformation syndrome - - - - - - - - 988 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=988 - Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome - - Malformation syndrome - - - - - - - - 989 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=989 - Hypoglossia-hypodactyly syndrome - - Malformation syndrome - - - - - - - - 1071 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1071 - Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome - - Malformation syndrome - - - - - - 1072 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1072 - Ankyloblepharon filiforme adnatum-cleft palate syndrome - - Clinical subtype - - - - - - - - 1074 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1074 - Ankyloblepharon filiforme adnatum-imperforate anus syndrome - - Clinical subtype - - - - - - - - - - 1112 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1112 - Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome - - Malformation syndrome - - - - - - - - 1113 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1113 - Aphalangy-syndactyly-microcephaly syndrome - - Malformation syndrome - - - - - - - - 1972 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1972 - Lethal faciocardiomelic dysplasia - - Malformation syndrome - - - - - - - - 1986 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1986 - Gollop-Wolfgang complex - - Malformation syndrome - - - - - - - - 1988 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1988 - Femoral-facial syndrome - - Malformation syndrome - - - - - - - - 2063 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2063 - Splenogonadal fusion-limb defects-micrognathia syndrome - - Malformation syndrome - - - - - - - - 2249 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2249 - Ulna hypoplasia-intellectual disability syndrome - - Malformation syndrome - - - - - - - - 2307 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2307 - IVIC syndrome - - Malformation syndrome - - - - - - - - 2310 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2310 - Absence deformity of leg-cataract syndrome - - Malformation syndrome - - - - - - - - 2329 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2329 - Karsch-Neugebauer syndrome - - Malformation syndrome - - - - - - - - 2564 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2564 - Tetramelic monodactyly - - Malformation syndrome - - - - - - - - 2639 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2639 - Fibular aplasia-complex brachydactyly syndrome - - Malformation syndrome - - - - - - - - 2730 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2730 - Postaxial tetramelic oligodactyly - - Malformation syndrome - - - - - - - - 2839 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2839 - Pelvis-shoulder dysplasia - - Malformation syndrome - - - - - - - - 2854 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2854 - Fuhrmann syndrome - - Malformation syndrome - - - - - - - - 2879 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2879 - Phocomelia, Schinzel type - - Malformation syndrome - - - - - - - - 3015 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3015 - Radio-renal syndrome - - Malformation syndrome - - - - - - - - 3016 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3016 - Absent radius-anogenital anomalies syndrome - - Malformation syndrome - - - - - - - - 3021 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3021 - RAPADILINO syndrome - - Malformation syndrome - - - - - - - - 3138 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3138 - Ulnar-mammary syndrome - - Malformation syndrome - - - - - - - - 3301 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3301 - Tetraamelia-multiple malformations syndrome - - Malformation syndrome - - - - - - - - 3328 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3328 - Absent tibia-polydactyly-arachnoid cyst syndrome - - Malformation syndrome - - - - - - - - 3329 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3329 - Tibial aplasia-ectrodactyly syndrome - - Malformation syndrome - - - - - - - - 3383 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3383 - Humerus trochlea aplasia - - Malformation syndrome - - - - - - - - 71271 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71271 - Split hand-split foot-deafness syndrome - - Malformation syndrome - - - - - - - - 93293 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93293 - Okihiro syndrome - - Malformation syndrome - - - - - - 261638 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261638 - Okihiro syndrome due to 20q13 microdeletion - - Etiological subtype - - - - - - - - 261647 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261647 - Okihiro syndrome due to a point mutation - - Etiological subtype - - - - - - - - - - 93333 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93333 - Pelviscapular dysplasia - - Malformation syndrome - - - - - - - - 1354 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1354 - Heart defects-limb shortening syndrome - - Malformation syndrome - - - - - - - - 221139 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221139 - Combined immunodeficiency with facio-oculo-skeletal anomalies - - Disease - - - - - - - - 496693 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=496693 - Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome - - Malformation syndrome - - - - - - - - 508542 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508542 - Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome - - Disease - - - - - - - - 488232 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488232 - Split-foot malformation-mesoaxial polydactyly syndrome - - Malformation syndrome - - - - - - - - - - 444941 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444941 - Caudal regression-sirenomelia spectrum - - Clinical group - - - - - - 3169 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3169 - Sirenomelia - - Malformation syndrome - - - - - - - - 3027 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3027 - Caudal regression syndrome - - Malformation syndrome - - - - - - - - 1768 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1768 - Familial caudal dysgenesis - - Malformation syndrome - - - - - - - - - - 592570 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=592570 - TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome - - Malformation syndrome - - - - - - - - - - - - 183539 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183539 - Genetic renal or urinary tract malformation - - Category - - - - - - 93547 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93547 - Syndromic renal or urinary tract malformation - - Category - - - - - - 138 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=138 - CHARGE syndrome - - Malformation syndrome - - - - - - - - 783 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=783 - Rubinstein-Taybi syndrome - - Malformation syndrome - - - - - - 353277 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353277 - Rubinstein-Taybi syndrome due to CREBBP mutations - - Etiological subtype - - - - - - - - 353281 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353281 - Rubinstein-Taybi syndrome due to 16p13.3 microdeletion - - Etiological subtype - - - - - - - - 353284 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353284 - Rubinstein-Taybi syndrome due to EP300 haploinsufficiency - - Etiological subtype - - - - - - - - - - 648 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=648 - Noonan syndrome - - Malformation syndrome - - - - - - - - 893 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=893 - WAGR syndrome - - Malformation syndrome - - - - - - - - 107 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=107 - BOR syndrome - - Malformation syndrome - - - - - - - - 195 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=195 - Cat-eye syndrome - - Malformation syndrome - - - - - - - - 52 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52 - Alagille syndrome - - Malformation syndrome - - - - - - 261600 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261600 - Alagille syndrome due to 20p12 microdeletion - - Etiological subtype - - - - - - - - 261619 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261619 - Alagille syndrome due to a JAG1 point mutation - - Etiological subtype - - - - - - - - 261629 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261629 - Alagille syndrome due to a NOTCH2 point mutation - - Etiological subtype - - - - - - - - - - 116 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=116 - Beckwith-Wiedemann syndrome - - Malformation syndrome - - - - - - 96076 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96076 - Beckwith-Wiedemann syndrome due to 11p15 microduplication - - Etiological subtype - - - - - - - - 96193 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96193 - Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11 - - Etiological subtype - - - - - - - - 231117 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231117 - Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 - - Etiological subtype - - - - - - - - 231120 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231120 - Beckwith-Wiedemann syndrome due to CDKN1C mutation - - Etiological subtype - - - - - - - - 231127 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231127 - Beckwith-Wiedemann syndrome due to 11p15 microdeletion - - Etiological subtype - - - - - - - - 231130 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231130 - Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion - - Etiological subtype - - - - - - - - 238613 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238613 - Beckwith-Wiedemann syndrome due to NSD1 mutation - - Etiological subtype - - - - - - - - - - 564 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=564 - Meckel syndrome - - Malformation syndrome - - - - - - - - 289 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289 - Ellis Van Creveld syndrome - - Malformation syndrome - - - - - - - - 373 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=373 - Simpson-Golabi-Behmel syndrome - - Malformation syndrome - - - - - - - - 3027 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3027 - Caudal regression syndrome - - Malformation syndrome - - - - - - - - 2052 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2052 - Fraser syndrome - - Malformation syndrome - - - - - - - - 955 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=955 - Hajdu-Cheney syndrome - - Malformation syndrome - - - - - - - - 971 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=971 - Acrorenal syndrome - - Malformation syndrome - - - - - - - - 1064 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1064 - Aniridia-renal agenesis-psychomotor retardation syndrome - - Malformation syndrome - - - - - - - - 1133 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1133 - AREDYLD syndrome - - Malformation syndrome - - - - - - - - 1834 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1834 - Axial mesodermal dysplasia spectrum - - Malformation syndrome - - - - - - - - 1896 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1896 - EEC syndrome - - Malformation syndrome - - - - - - - - 1973 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1973 - Faciocardiorenal syndrome - - Malformation syndrome - - - - - - - - 2186 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2186 - Hydrocephalus-blue sclerae-nephropathy syndrome - - Malformation syndrome - - - - - - - - 2237 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2237 - Hypoparathyroidism-sensorineural deafness-renal disease syndrome - - Malformation syndrome - - - - - - - - 2241 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2241 - Megacystis-microcolon-intestinal hypoperistalsis syndrome - - Malformation syndrome - - - - - - - - 2256 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2256 - Fibulo-ulnar hypoplasia-renal anomalies syndrome - - Malformation syndrome - - - - - - - - 672 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=672 - Pallister-Hall syndrome - - Malformation syndrome - - - - - - - - 2278 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2278 - Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome - - Malformation syndrome - - - - - - - - 2669 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2669 - Nephrosis-deafness-urinary tract-digital malformations syndrome - - Malformation syndrome - - - - - - - - 1475 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1475 - Renal coloboma syndrome - - Malformation syndrome - - - - - - - - 2673 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2673 - Neurofaciodigitorenal syndrome - - Malformation syndrome - - - - - - - - 2697 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2697 - Arthrogryposis-renal dysfunction-cholestasis syndrome - - Malformation syndrome - - - - - - - - 2704 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2704 - Urofacial syndrome - - Malformation syndrome - - - - - - - - 2750 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2750 - Orofaciodigital syndrome type 1 - - Malformation syndrome - - - - - - - - 2774 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2774 - Multicentric carpo-tarsal osteolysis with or without nephropathy - - Malformation syndrome - - - - - - - - 2820 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2820 - Spastic paraplegia-nephritis-deafness syndrome - - Clinical syndrome - - - - - - - - 3032 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3032 - NPHP3-related Meckel-like syndrome - - Malformation syndrome - - - - - - - - 3109 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3109 - Mayer-Rokitansky-Küster-Hauser syndrome - - Malformation syndrome - - - - - - 2578 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2578 - Mayer-Rokitansky-Küster-Hauser syndrome type 2 - - Clinical subtype - - - - - - - - 247775 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247775 - Mayer-Rokitansky-Küster-Hauser syndrome type 1 - - Clinical subtype - - - - - - - - - - 798 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=798 - Schinzel-Giedion syndrome - - Malformation syndrome - - - - - - - - 3186 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3186 - Holoprosencephaly-radial heart renal anomalies syndrome - - Malformation syndrome - - - - - - - - 3316 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3316 - Thomas syndrome - - Malformation syndrome - - - - - - - - 3326 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3326 - Thymic-renal-anal-lung dysplasia - - Malformation syndrome - - - - - - - - 3327 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3327 - Thyrocerebrorenal syndrome - - Malformation syndrome - - - - - - - - 3404 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3404 - Ulbright-Hodes syndrome - - Malformation syndrome - - - - - - - - 1192 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1192 - Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome - - Malformation syndrome - - - - - - - - 818 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=818 - Smith-Lemli-Opitz syndrome - - Malformation syndrome - - - - - - - - 567 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=567 - 22q11.2 deletion syndrome - - Malformation syndrome - - - - - - - - 93111 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93111 - HNF1B-related autosomal dominant tubulointerstitial kidney disease - - Clinical subtype - - - - - - - - 217266 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217266 - BNAR syndrome - - Malformation syndrome - - - - - - - - 444069 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444069 - Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome - - Malformation syndrome - - - - - - - - 3378 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3378 - Trisomy 13 syndrome - - Malformation syndrome - - - - - - - - 3380 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3380 - Trisomy 18 syndrome - - Malformation syndrome - - - - - - - - 887 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=887 - VACTERL/VATER association - - Malformation syndrome - - - - - - - - 439897 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439897 - Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome - - Malformation syndrome - - - - - - - - 881 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=881 - Turner syndrome - - Malformation syndrome - - - - - - 99226 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99226 - Monosomy X syndrome - - Etiological subtype - - - - - - - - 99228 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99228 - Mosaic monosomy X syndrome - - Etiological subtype - - - - - - - - 99413 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99413 - Turner syndrome due to structural X chromosome anomalies - - Etiological subtype - - - - - - - - - - 3015 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3015 - Radio-renal syndrome - - Malformation syndrome - - - - - - - - 500135 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500135 - Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome - - Malformation syndrome - - - - - - - - 1756 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1756 - Caudal duplication - - Malformation syndrome - - - - - - - - 500095 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500095 - Tall stature-intellectual disability-renal anomalies syndrome - - Malformation syndrome - - - - - - - - 521438 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521438 - Congenital vertebral-cardiac-renal anomalies syndrome - - Malformation syndrome - - - - - - - - 508488 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508488 - 8q24.3 microdeletion syndrome - - Malformation syndrome - - - - - - - - 592574 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=592574 - Menke-Hennekam syndrome - - Malformation syndrome - - - - - - - - 597743 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=597743 - SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome - - Malformation syndrome - - - - - - - - 656130 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=656130 - PBX1-related congenital anomalies of kidney-urinary tract syndrome - - Disease - - - - - - - - 689822 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=689822 - Structural heart defects-renal anomalies syndrome - - Malformation syndrome - - - - - - - - - - 357506 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357506 - Genetic non-syndromic renal or urinary tract malformation - - Category - - - - - - 1851 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1851 - Multicystic dysplastic kidney - - Morphological anomaly - - - - - - 97363 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97363 - Unilateral multicystic dysplastic kidney - - Clinical subtype - - - - - - - - 97364 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97364 - Bilateral multicystic dysplastic kidney - - Clinical subtype - - - - - - - - - - 322 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=322 - Exstrophy-epispadias complex - - Malformation syndrome - - - - - - 93928 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93928 - Isolated epispadias - - Clinical subtype - - - - - - - - 93929 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93929 - Cloacal exstrophy - - Clinical subtype - - - - - - - - 93930 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93930 - Classic bladder exstrophy - - Clinical subtype - - - - - - - - - - 1309 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1309 - Medullary sponge kidney - - Morphological anomaly - - - - - - - - 237 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=237 - Duplication of urethra - - Morphological anomaly - - - - - - - - 617 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=617 - Congenital primary megaureter - - Morphological anomaly - - - - - - 238642 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238642 - Primary megaureter, adult-onset form - - Clinical subtype - - - - - - - - 238646 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238646 - Congenital primary megaureter, obstructed form - - Clinical subtype - - - - - - - - 238650 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238650 - Congenital primary megaureter, refluxing form - - Clinical subtype - - - - - - - - 238654 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238654 - Congenital primary megaureter, nonrefluxing and unobstructed form - - Clinical subtype - - - - - - - - 544578 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=544578 - Congenital primary megaureter, refluxing and obstructed form - - Clinical subtype - - - - - - - - - - 93101 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93101 - Renal hypoplasia - - Morphological anomaly - - - - - - 97361 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97361 - Renal hypoplasia, unilateral - - Clinical subtype - - - - - - - - 97362 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97362 - Renal hypoplasia, bilateral - - Clinical subtype - - - - - - - - - - 93108 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93108 - Renal dysplasia - - Morphological anomaly - - - - - - 93172 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93172 - Renal dysplasia, unilateral - - Clinical subtype - - - - - - - - 93173 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93173 - Renal dysplasia, bilateral - - Clinical subtype - - - - - - - - - - 97369 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97369 - Renal tubular dysgenesis of genetic origin - - Etiological subtype - - - - - - - - 411709 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411709 - Renal agenesis - - Morphological anomaly - - - - - - 1848 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1848 - Renal agenesis, bilateral - - Clinical subtype - - - - - - - - 93100 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93100 - Renal agenesis, unilateral - - Clinical subtype - - - - - - - - - - 435365 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435365 - Fetal lower urinary tract obstruction - - Clinical group - - - - - - 2970 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2970 - Prune belly syndrome - - Malformation syndrome - - - - - - - - 105 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=105 - Atresia of urethra - - Morphological anomaly - - - - - - - - 93110 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93110 - Posterior urethral valve - - Morphological anomaly - - - - - - - - 435372 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435372 - Anterior urethral valve - - Morphological anomaly - - - - - - - - - - - - - - 183542 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183542 - Genetic cranial malformation - - Category - - - - - - 974 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=974 - Adams-Oliver syndrome - - Malformation syndrome - - - - - - - - 1790 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1790 - Hypomandibular faciocranial dysostosis - - Malformation syndrome - - - - - - - - 3034 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3034 - Delayed membranous cranial ossification - - Malformation syndrome - - - - - - - - 60015 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=60015 - Enlarged parietal foramina - - Malformation syndrome - - - - - - - - 77296 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77296 - Morgagni-Stewart-Morel syndrome - - Malformation syndrome - - - - - - - - 1114 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1114 - Aplasia cutis congenita - - Malformation syndrome - - - - - - - - 1452 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1452 - Cleidocranial dysplasia - - Malformation syndrome - - - - - - - - 1531 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1531 - Craniosynostosis - - Category - - - - - - 139390 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139390 - Non-syndromic craniosynostosis - - Clinical group - - - - - - 620096 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=620096 - Non-syndromic unisutural craniosynostosis - - Clinical group - - - - - - 620102 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=620102 - Non-syndromic unicoronal craniosynostosis - - Morphological anomaly - - - - - - - - 620113 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=620113 - Non-syndromic unilambdoid craniosynostosis - - Morphological anomaly - - - - - - - - 620139 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=620139 - Non-syndromic unifrontosphenoidal craniosynostosis - - Morphological anomaly - - - - - - - - 620146 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=620146 - Non-syndromic unisquamosal craniosynostosis - - Morphological anomaly - - - - - - - - 3366 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3366 - Non-syndromic metopic craniosynostosis - - Morphological anomaly - - - - - - - - 35093 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35093 - Non-syndromic sagittal craniosynostosis - - Morphological anomaly - - - - - - - - - - 620152 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=620152 - Non-syndromic multisutural craniosynostosis - - Clinical group - - - - - - 620158 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=620158 - Non-syndromic non-specific multisutural craniosynostosis - - Morphological anomaly - - - - - - - - 620178 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=620178 - Non-syndromic bilambdoid craniosynostosis - - Morphological anomaly - - - - - - - - 620186 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=620186 - Non-syndromic unicoronal and sagittal craniosynostosis - - Morphological anomaly - - - - - - - - 620192 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=620192 - Non-syndromic metopic and sagittal craniosynostosis - - Morphological anomaly - - - - - - - - 620198 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=620198 - Non-syndromic bicoronal and metopic craniosynostosis - - Morphological anomaly - - - - - - - - 620205 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=620205 - Non-syndromic bicoronal and sagittal craniosynostosis - - Morphological anomaly - - - - - - - - 620212 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=620212 - Non-syndromic pansynostosis - - Morphological anomaly - - - - - - - - 35099 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35099 - Non-syndromic bicoronal craniosynostosis - - Morphological anomaly - - - - - - - - 1516 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1516 - Non-syndromic bilambdoid and sagittal craniosynostosis - - Malformation syndrome - - - - - - - - - - - - 139393 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139393 - Syndromic craniosynostosis - - Category - - - - - - 207 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=207 - Crouzon syndrome - - Malformation syndrome - - - - - - - - 1308 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1308 - C syndrome - - Malformation syndrome - - - - - - - - 87 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=87 - Apert syndrome - - Malformation syndrome - - - - - - - - 83 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83 - Antley-Bixler syndrome - - Malformation syndrome - - - - - - 63269 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=63269 - Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis - - Clinical subtype - - - - - - - - 596008 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=596008 - Antley-Bixler syndrome without genital anomaly or disorder of steroidogenesis - - Clinical subtype - - - - - - - - - - 1225 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1225 - Baller-Gerold syndrome - - Malformation syndrome - - - - - - - - 1515 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1515 - Cranioectodermal dysplasia - - Malformation syndrome - - - - - - - - 1527 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1527 - Craniosynostosis, Philadelphia type - - Malformation syndrome - - - - - - - - 1528 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1528 - Craniotelencephalic dysplasia - - Malformation syndrome - - - - - - - - 1540 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1540 - Jackson-Weiss syndrome - - Malformation syndrome - - - - - - - - 1553 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1553 - Curry-Jones syndrome - - Malformation syndrome - - - - - - - - 1555 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1555 - Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome - - Malformation syndrome - - - - - - - - 2145 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2145 - Craniosynostosis, Herrmann-Opitz type - - Malformation syndrome - - - - - - - - 2163 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2163 - Holoprosencephaly-craniosynostosis syndrome - - Malformation syndrome - - - - - - - - 2409 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2409 - Lowry-MacLean syndrome - - Malformation syndrome - - - - - - - - 2462 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2462 - Shprintzen-Goldberg syndrome - - Malformation syndrome - - - - - - - - 2872 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2872 - Cardiocranial syndrome, Pfeiffer type - - Malformation syndrome - - - - - - - - 3134 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3134 - SCARF syndrome - - Malformation syndrome - - - - - - - - 313855 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313855 - FGFR2-related bent bone dysplasia - - Disease - - - - - - - - 3365 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3365 - Trigonocephaly-broad thumbs syndrome - - Malformation syndrome - - - - - - - - 3369 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3369 - Trigonocephaly-short stature-developmental delay syndrome - - Malformation syndrome - - - - - - - - 2898 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2898 - X-linked intellectual disability-plagiocephaly syndrome - - Malformation syndrome - - - - - - - - 1541 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1541 - Craniosynostosis, Boston type - - Malformation syndrome - - - - - - - - 1524 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1524 - Craniomicromelic syndrome - - Malformation syndrome - - - - - - - - 52054 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52054 - Craniosynostosis-intracranial calcifications syndrome - - Malformation syndrome - - - - - - - - 53271 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53271 - Muenke syndrome - - Malformation syndrome - - - - - - - - 247651 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247651 - Infantile hypophosphatasia - - Clinical subtype - - - - - - - - 85199 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85199 - Craniosynostosis-anal anomalies-porokeratosis syndrome - - Malformation syndrome - - - - - - - - 93262 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93262 - Crouzon syndrome-acanthosis nigricans syndrome - - Malformation syndrome - - - - - - - - 93267 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93267 - Cloverleaf skull-multiple congenital anomalies syndrome - - Malformation syndrome - - - - - - - - 247638 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247638 - Prenatal benign hypophosphatasia - - Clinical subtype - - - - - - - - 100978 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100978 - Cloverleaf skull-asphyxiating thoracic dysplasia syndrome - - Malformation syndrome - - - - - - - - 169163 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=169163 - Familial scaphocephaly syndrome - - Category - - - - - - 1538 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1538 - Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome - - Malformation syndrome - - - - - - - - 168624 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168624 - Familial scaphocephaly syndrome, McGillivray type - - Malformation syndrome - - - - - - - - - - 171839 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171839 - Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome - - Malformation syndrome - - - - - - - - 178377 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178377 - Osteosclerosis-developmental delay-craniosynostosis syndrome - - Malformation syndrome - - - - - - - - 221054 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221054 - Acrocephalopolydactyly - - Malformation syndrome - - - - - - - - 284149 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284149 - Craniosynostosis-dental anomalies - - Malformation syndrome - - - - - - - - 293925 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293925 - Lethal occipital encephalocele-skeletal dysplasia syndrome - - Malformation syndrome - - - - - - - - 247667 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247667 - Childhood-onset hypophosphatasia - - Clinical subtype - - - - - - - - 648 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=648 - Noonan syndrome - - Malformation syndrome - - - - - - - - 79213 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79213 - Mucopolysaccharidosis - - Category - - - - - - 67041 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=67041 - Hyaluronidase deficiency - - Disease - - - - - - - - 583 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=583 - Mucopolysaccharidosis type 6 - - Disease - - - - - - 276212 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276212 - Mucopolysaccharidosis type 6, rapidly progressing - - Clinical subtype - - - - - - - - 276223 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276223 - Mucopolysaccharidosis type 6, slowly progressing - - Clinical subtype - - - - - - - - - - 584 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=584 - Mucopolysaccharidosis type 7 - - Disease - - - - - - - - 580 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=580 - Mucopolysaccharidosis type 2 - - Disease - - - - - - 217085 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217085 - Mucopolysaccharidosis type 2, severe form - - Clinical subtype - - - - - - - - 217093 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217093 - Mucopolysaccharidosis type 2, attenuated form - - Clinical subtype - - - - - - - - - - 579 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=579 - Mucopolysaccharidosis type 1 - - Disease - - - - - - 93473 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93473 - Hurler syndrome - - Clinical subtype - - - - - - - - 93474 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93474 - Scheie syndrome - - Clinical subtype - - - - - - - - 93476 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93476 - Hurler-Scheie syndrome - - Clinical subtype - - - - - - - - - - 581 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=581 - Mucopolysaccharidosis type 3 - - Disease - - - - - - 79269 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79269 - Sanfilippo syndrome type A - - Etiological subtype - - - - - - - - 79270 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79270 - Sanfilippo syndrome type B - - Etiological subtype - - - - - - - - 79271 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79271 - Sanfilippo syndrome type C - - Etiological subtype - - - - - - - - 79272 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79272 - Sanfilippo syndrome type D - - Etiological subtype - - - - - - - - - - 582 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=582 - Mucopolysaccharidosis type 4 - - Disease - - - - - - 309297 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309297 - Mucopolysaccharidosis type 4A - - Clinical subtype - - - - - - - - 309310 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309310 - Mucopolysaccharidosis type 4B - - Clinical subtype - - - - - - - - - - 662216 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662216 - Mucopolysaccharidosis type 10 - - Disease - - - - - - - - - - 2645 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2645 - Osteoglosphonic dysplasia - - Malformation syndrome - - - - - - - - 904 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=904 - Williams syndrome - - Malformation syndrome - - - - - - - - 3270 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3270 - Radioulnar synostosis-developmental delay-hypotonia syndrome - - Malformation syndrome - - - - - - - - 369837 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369837 - Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome - - Malformation syndrome - - - - - - - - 1520 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1520 - Craniofrontonasal dysplasia - - Malformation syndrome - - - - - - - - 293843 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293843 - 3MC syndrome - - Malformation syndrome - - - - - - - - 2655 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2655 - Thanatophoric dysplasia - - Disease - - - - - - 1860 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1860 - Thanatophoric dysplasia type 1 - - Clinical subtype - - - - - - - - 93274 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93274 - Thanatophoric dysplasia type 2 - - Clinical subtype - - - - - - - - - - 763 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=763 - Pycnodysostosis - - Disease - - - - - - - - 1465 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1465 - Coffin-Siris syndrome - - Malformation syndrome - - - - - - - - 36 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36 - Acrocallosal syndrome - - Malformation syndrome - - - - - - - - 235 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=235 - Dubowitz syndrome - - Malformation syndrome - - - - - - - - 647681 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=647681 - Craniosynostosis-facial dysmorphism-Chiari-1 malformation-developmental and language delay syndrome - - Malformation syndrome - - - - - - - - 565858 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=565858 - Craniosynostosis-microretrognathia-severe intellectual disability syndrome - - Malformation syndrome - - - - - - - - 672979 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=672979 - Craniosynostosis-facial dysmorphism-brachydactyly syndrome - - Malformation syndrome - - - - - - - - 672985 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=672985 - Craniosynostosis-skeletal and cerebellar anomalies-learning disabilities syndrome - - Malformation syndrome - - - - - - - - 2332 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2332 - KBG syndrome - - Malformation syndrome - - - - - - - - 96169 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96169 - Koolen-De Vries syndrome - - Malformation syndrome - - - - - - 363958 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363958 - 17q21.31 microdeletion syndrome - - Etiological subtype - - - - - - - - 363965 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363965 - Koolen-De Vries syndrome due to a point mutation - - Etiological subtype - - - - - - - - - - 97297 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97297 - Bohring-Opitz syndrome - - Malformation syndrome - - - - - - - - 1906 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1906 - Fetal valproate spectrum disorder - - Malformation syndrome - - - - - - - - 710 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=710 - Pfeiffer syndrome - - Malformation syndrome - - - - - - 93258 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93258 - Pfeiffer syndrome type 1 - - Clinical subtype - - - - - - - - 93259 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93259 - Pfeiffer syndrome type 2 - - Clinical subtype - - - - - - - - 93260 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93260 - Pfeiffer syndrome type 3 - - Clinical subtype - - - - - - - - - - 794 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=794 - Saethre-Chotzen syndrome - - Malformation syndrome - - - - - - - - 65759 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65759 - Carpenter syndrome - - Malformation syndrome - - - - - - - - - - - - 1513 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1513 - Craniodiaphyseal dysplasia - - Malformation syndrome - - - - - - - - 1826 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1826 - Frontometaphyseal dysplasia - - Disease - - - - - - - - 2780 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2780 - Osteopathia striata-cranial sclerosis syndrome - - Malformation syndrome - - - - - - - - 2763 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2763 - Osteocraniostenosis - - Malformation syndrome - - - - - - - - 1522 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1522 - Craniometaphyseal dysplasia - - Malformation syndrome - - - - - - - - 2050 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2050 - Cole-Carpenter syndrome - - Malformation syndrome - - - - - - - - - - 183545 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183545 - Genetic digestive tract malformation - - Category - - - - - - 88993 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88993 - Esophageal malformation - - Category - - - - - - 108959 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=108959 - Non-syndromic esophageal malformation - - Category - - - - - - 1199 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1199 - Esophageal atresia - - Morphological anomaly - - - - - - - - 91357 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91357 - Duplication of the esophagus - - Clinical group - - - - - - 100047 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100047 - Isolated esophageal duplication cyst - - Morphological anomaly - - - - - - - - 100048 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100048 - Isolated tubular duplication of the esophagus - - Morphological anomaly - - - - - - - - - - 91358 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91358 - Congenital esophageal diverticulum - - Morphological anomaly - - - - - - - - 645749 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=645749 - Congenital esophageal stenosis - - Morphological anomaly - - - - - - - - 2004 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2004 - Laryngotracheoesophageal cleft - - Morphological anomaly - - - - - - 280205 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280205 - Laryngotracheoesophageal cleft type 0 - - Clinical subtype - - - - - - - - 93938 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93938 - Laryngotracheoesophageal cleft type 1 - - Clinical subtype - - - - - - - - 93941 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93941 - Laryngotracheoesophageal cleft type 4 - - Clinical subtype - - - - - - - - 93939 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93939 - Laryngotracheoesophageal cleft type 2 - - Clinical subtype - - - - - - - - 93940 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93940 - Laryngotracheoesophageal cleft type 3 - - Clinical subtype - - - - - - - - - - 454750 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=454750 - Isolated tracheoesophageal fistula - - Morphological anomaly - - - - - - - - - - 371445 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=371445 - Genetic syndromic esophageal malformation - - Category - - - - - - 869 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=869 - Triple A syndrome - - Disease - - - - - - - - 929 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=929 - Achalasia-microcephaly syndrome - - Malformation syndrome - - - - - - - - 1305 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1305 - Feingold syndrome - - Malformation syndrome - - - - - - 391641 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391641 - Feingold syndrome type 1 - - Clinical subtype - - - - - - - - 391646 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391646 - Feingold syndrome type 2 - - Clinical subtype - - - - - - - - - - 77298 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77298 - Anophthalmia/microphthalmia-esophageal atresia syndrome - - Malformation syndrome - - - - - - - - 514352 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=514352 - Congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome - - Malformation syndrome - - - - - - - - - - - - 97944 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97944 - Gastroduodenal malformation - - Category - - - - - - 108963 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=108963 - Non-syndromic gastroduodenal malformation - - Category - - - - - - 662376 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662376 - Isolated gastric duplication - - Morphological anomaly - - - - - - - - 662405 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662405 - Isolated pyloric duplication - - Morphological anomaly - - - - - - - - 1203 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1203 - Duodenal atresia - - Morphological anomaly - - - - - - - - - - 108965 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=108965 - Syndromic gastroduodenal malformation - - Category - - - - - - 1305 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1305 - Feingold syndrome - - Malformation syndrome - - - - - - 391641 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391641 - Feingold syndrome type 1 - - Clinical subtype - - - - - - - - 391646 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391646 - Feingold syndrome type 2 - - Clinical subtype - - - - - - - - - - - - - - 97945 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97945 - Intestinal malformation - - Category - - - - - - 108967 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=108967 - Non-syndromic intestinal malformation - - Category - - - - - - 2300 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2300 - Isolated multiple intestinal atresia - - Morphological anomaly - - - - - - - - 1201 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1201 - Small bowel atresia - - Morphological anomaly - - - - - - - - 1198 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1198 - Colonic atresia - - Morphological anomaly - - - - - - - - 2301 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2301 - Congenital short bowel syndrome - - Morphological anomaly - - - - - - - - 662456 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662456 - Isolated small intestine duplication - - Morphological anomaly - - - - - - 662473 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662473 - Isolated duodenal duplication - - Clinical subtype - - - - - - - - 662480 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662480 - Isolated jejuno-ileal duplication - - Clinical subtype - - - - - - - - - - 508410 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508410 - Familial intestinal malrotation - - Morphological anomaly - - - - - - - - 662392 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662392 - Isolated colonic duplication - - Morphological anomaly - - - - - - - - 1203 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1203 - Duodenal atresia - - Morphological anomaly - - - - - - - - - - 108969 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=108969 - Syndromic intestinal malformation - - Category - - - - - - 557866 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=557866 - Rare disorder with Hirschsprung disease as a major feature - - Category - - - - - - 110 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=110 - Bardet-Biedl syndrome - - Disease - - - - - - - - 66629 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66629 - Goldberg-Shprintzen megacolon syndrome - - Malformation syndrome - - - - - - - - 99803 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99803 - Haddad syndrome - - Malformation syndrome - - - - - - - - 163746 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163746 - Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease - - Disease - - - - - - - - 897 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=897 - Waardenburg-Shah syndrome - - Disease - - - - - - - - 2150 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2150 - Hirschsprung disease-type D brachydactyly syndrome - - Malformation syndrome - - - - - - - - 2152 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2152 - Mowat-Wilson syndrome - - Malformation syndrome - - - - - - 261537 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261537 - Mowat-Wilson syndrome due to monosomy 2q22 - - Etiological subtype - - - - - - - - 261552 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261552 - Mowat-Wilson syndrome due to a ZEB2 point mutation - - Etiological subtype - - - - - - - - - - 2153 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2153 - Hirschsprung disease-nail hypoplasia-dysmorphism syndrome - - Malformation syndrome - - - - - - - - 2155 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2155 - Hirschsprung disease-deafness-polydactyly syndrome - - Malformation syndrome - - - - - - - - - - 2464 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2464 - Marfanoid syndrome, De Silva type - - Malformation syndrome - - - - - - - - 1759 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1759 - Thoraco-abdominal enteric duplication - - Malformation syndrome - - - - - - - - 3405 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3405 - Umbilical cord ulceration-intestinal atresia syndrome - - Malformation syndrome - - - - - - - - 293864 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293864 - Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome - - Malformation syndrome - - - - - - - - 436252 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436252 - Combined immunodeficiency-multiple intestinal atresia - - Disease - - - - - - - - 527468 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=527468 - Diaphragmatic hernia-short bowel-asplenia syndrome - - Malformation syndrome - - - - - - - - 506307 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=506307 - Stromme syndrome - - Malformation syndrome - - - - - - - - - - - - 684757 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=684757 - Malformation of the anal canal and the rectum - - Category - - - - - - 96346 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96346 - Anorectal malformation - - Category - - - - - - 557 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=557 - Non-syndromic anorectal malformation - - Clinical group - - - - - - 600952 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=600952 - Non-syndromic perineal fistula - - Morphological anomaly - - - - - - - - 600961 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=600961 - Non-syndromic rectourethral fistula - - Morphological anomaly - - - - - - 600966 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=600966 - Non-syndromic rectourethral fistula, bulbar type - - Clinical subtype - - - - - - - - 600975 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=600975 - Non-syndromic rectourethral fistula, prostatic type - - Clinical subtype - - - - - - - - - - 600984 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=600984 - Non-syndromic rectovesical fistula - - Morphological anomaly - - - - - - - - 600993 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=600993 - Non-syndromic vestibular fistula - - Morphological anomaly - - - - - - - - 600998 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=600998 - Non-syndromic cloacal malformation - - Morphological anomaly - - - - - - - - 601002 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=601002 - Non-syndromic anorectal malformation without fistula - - Morphological anomaly - - - - - - - - 601008 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=601008 - Non-syndromic anal stenosis - - Morphological anomaly - - - - - - - - 601013 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=601013 - Non-syndromic pouch colon - - Morphological anomaly - - - - - - - - 601018 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=601018 - Non-syndromic rectal atresia - - Morphological anomaly - - - - - - - - 601023 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=601023 - Non-syndromic rectal stenosis - - Morphological anomaly - - - - - - - - 601028 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=601028 - Non-syndromic rectovaginal fistula - - Morphological anomaly - - - - - - - - 601033 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=601033 - Non-syndromic H-type fistula - - Morphological anomaly - - - - - - - - - - 117573 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=117573 - Syndromic anorectal malformation - - Category - - - - - - 567 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=567 - 22q11.2 deletion syndrome - - Malformation syndrome - - - - - - - - 857 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=857 - Townes-Brocks syndrome - - Malformation syndrome - - - - - - - - 195 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=195 - Cat-eye syndrome - - Malformation syndrome - - - - - - - - 3378 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3378 - Trisomy 13 syndrome - - Malformation syndrome - - - - - - - - 3380 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3380 - Trisomy 18 syndrome - - Malformation syndrome - - - - - - - - 884 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=884 - Pallister-Killian syndrome - - Malformation syndrome - - - - - - - - 887 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=887 - VACTERL/VATER association - - Malformation syndrome - - - - - - - - 2052 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2052 - Fraser syndrome - - Malformation syndrome - - - - - - - - 1552 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1552 - Currarino syndrome - - Malformation syndrome - - - - - - - - 1590 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1590 - Distal deletion 13q syndrome - - Malformation syndrome - - - - - - - - 1225 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1225 - Baller-Gerold syndrome - - Malformation syndrome - - - - - - - - 1381 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1381 - Cataract-intellectual disability-anal atresia-urinary defects syndrome - - Malformation syndrome - - - - - - - - 1436 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1436 - X-linked skeletal dysplasia-intellectual disability syndrome - - Malformation syndrome - - - - - - - - 1756 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1756 - Caudal duplication - - Malformation syndrome - - - - - - - - 1834 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1834 - Axial mesodermal dysplasia spectrum - - Malformation syndrome - - - - - - - - 672 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=672 - Pallister-Hall syndrome - - Malformation syndrome - - - - - - - - 2315 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2315 - Johanson-Blizzard syndrome - - Malformation syndrome - - - - - - - - 2322 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2322 - Kabuki syndrome - - Malformation syndrome - - - - - - - - 2408 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2408 - Lowe-Kohn-Cohen syndrome - - Malformation syndrome - - - - - - - - 2556 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2556 - Microphthalmia with linear skin defects syndrome - - Malformation syndrome - - - - - - - - 2578 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2578 - Mayer-Rokitansky-Küster-Hauser syndrome type 2 - - Clinical subtype - - - - - - - - 2973 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2973 - 46,XX difference of sex development-anorectal anomalies syndrome - - Malformation syndrome - - - - - - - - 3138 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3138 - Ulnar-mammary syndrome - - Malformation syndrome - - - - - - - - 3412 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3412 - VACTERL with hydrocephalus - - Malformation syndrome - - - - - - - - 2745 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2745 - Opitz GBBB syndrome - - Malformation syndrome - - - - - - - - 782 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=782 - Axenfeld-Rieger syndrome - - Malformation syndrome - - - - - - - - 75857 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75857 - 6q terminal deletion syndrome - - Malformation syndrome - - - - - - - - 83628 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83628 - LUMBAR syndrome - - Malformation syndrome - - - - - - - - 93271 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93271 - Short rib-polydactyly syndrome, Verma-Naumoff type - - Malformation syndrome - - - - - - - - 93293 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93293 - Okihiro syndrome - - Malformation syndrome - - - - - - 261638 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261638 - Okihiro syndrome due to 20q13 microdeletion - - Etiological subtype - - - - - - - - 261647 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261647 - Okihiro syndrome due to a point mutation - - Etiological subtype - - - - - - - - - - 93929 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93929 - Cloacal exstrophy - - Clinical subtype - - - - - - - - 96176 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96176 - Ring chromosome 13 syndrome - - Malformation syndrome - - - - - - - - 96185 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96185 - Maternal uniparental disomy of chromosome 16 syndrome - - Malformation syndrome - - - - - - - - 140952 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140952 - Syndactyly-telecanthus-anogenital and renal malformations syndrome - - Malformation syndrome - - - - - - - - 217266 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217266 - BNAR syndrome - - Malformation syndrome - - - - - - - - 444941 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444941 - Caudal regression-sirenomelia spectrum - - Clinical group - - - - - - 3169 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3169 - Sirenomelia - - Malformation syndrome - - - - - - - - 3027 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3027 - Caudal regression syndrome - - Malformation syndrome - - - - - - - - 1768 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1768 - Familial caudal dysgenesis - - Malformation syndrome - - - - - - - - - - 496751 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=496751 - EVEN-plus syndrome - - Malformation syndrome - - - - - - - - 93932 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93932 - FG syndrome type 1 - - Disease - - - - - - - - 870 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=870 - Down syndrome - - Malformation syndrome - - - - - - - - 2345 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2345 - Isolated Klippel-Feil syndrome - - Malformation syndrome - - - - - - - - 611201 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=611201 - Oculogastrointestinal-neurodevelopmental syndrome - - Malformation syndrome - - - - - - - - 1305 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1305 - Feingold syndrome - - Malformation syndrome - - - - - - 391641 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391641 - Feingold syndrome type 1 - - Clinical subtype - - - - - - - - 391646 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391646 - Feingold syndrome type 2 - - Clinical subtype - - - - - - - - - - 93270 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93270 - Short rib-polydactyly syndrome, Saldino-Noonan type - - Malformation syndrome - - - - - - - - - - - - 684752 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=684752 - Isolated anal canal duplication - - Morphological anomaly - - - - - - - - 171220 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171220 - Isolated rectal duplication - - Morphological anomaly - - - - - - - - - - - - 183548 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183548 - Genetic visceral malformation of the liver, biliary tract, pancreas or spleen - - Category - - - - - - 108971 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=108971 - Non-syndromic visceral malformation of the liver, biliary tract, pancreas or spleen - - Category - - - - - - 53035 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53035 - Caroli disease - - Malformation syndrome - - - - - - - - 2805 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2805 - Partial pancreatic agenesis - - Morphological anomaly - - - - - - - - 675 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=675 - Annular pancreas - - Morphological anomaly - - - - - - - - 674 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=674 - Accessory pancreas - - Morphological anomaly - - - - - - - - 101351 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101351 - Familial isolated congenital asplenia - - Morphological anomaly - - - - - - - - 157769 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157769 - Situs ambiguus - - Morphological anomaly - - - - - - - - 101063 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101063 - Situs inversus totalis - - Morphological anomaly - - - - - - - - 662388 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662388 - Isolated gallbladder duplication - - Morphological anomaly - - - - - - - - - - 108973 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=108973 - Syndromic visceral malformation of the liver, biliary tract, pancreas or spleen - - Category - - - - - - 293864 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293864 - Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome - - Malformation syndrome - - - - - - - - 294415 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294415 - Renal-hepatic-pancreatic dysplasia - - Malformation syndrome - - - - - - - - 52 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52 - Alagille syndrome - - Malformation syndrome - - - - - - 261600 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261600 - Alagille syndrome due to 20p12 microdeletion - - Etiological subtype - - - - - - - - 261619 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261619 - Alagille syndrome due to a JAG1 point mutation - - Etiological subtype - - - - - - - - 261629 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261629 - Alagille syndrome due to a NOTCH2 point mutation - - Etiological subtype - - - - - - - - - - 564 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=564 - Meckel syndrome - - Malformation syndrome - - - - - - - - 2063 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2063 - Splenogonadal fusion-limb defects-micrognathia syndrome - - Malformation syndrome - - - - - - - - 97548 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97548 - Right sided atrial isomerism - - Malformation syndrome - - - - - - - - 689829 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=689829 - Microphthalmia-motor delay-language delay-brain anomalies-diaphragmatic hernia syndrome - - Disease - - - - - - - - 527468 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=527468 - Diaphragmatic hernia-short bowel-asplenia syndrome - - Malformation syndrome - - - - - - - - 556955 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=556955 - Pancreatic agenesis-holoprosencephaly syndrome - - Disease - - - - - - - - - - - - 183554 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183554 - Genetic respiratory or mediastinal malformation - - Category - - - - - - 108993 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=108993 - Non-syndromic respiratory or mediastinal malformation - - Category - - - - - - 1928 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1928 - Congenital lobar emphysema - - Morphological anomaly - - - - - - - - 994 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=994 - Fetal akinesia deformation sequence - - Malformation syndrome - - - - - - - - 1120 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1120 - Lung agenesis-heart defect-thumb anomalies syndrome - - Malformation syndrome - - - - - - - - 1305 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1305 - Feingold syndrome - - Malformation syndrome - - - - - - 391641 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391641 - Feingold syndrome type 1 - - Clinical subtype - - - - - - - - 391646 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391646 - Feingold syndrome type 2 - - Clinical subtype - - - - - - - - - - 1486 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1486 - Lethal congenital contracture syndrome type 1 - - Malformation syndrome - - - - - - - - 2257 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2257 - Primary pulmonary hypoplasia - - Morphological anomaly - - - - - - - - 2407 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2407 - Laryngo-onycho-cutaneous syndrome - - Disease - - - - - - - - 2470 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2470 - Matthew-Wood syndrome - - Malformation syndrome - - - - - - - - 95430 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95430 - Congenital tracheomalacia - - Morphological anomaly - - - - - - - - 700286 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700286 - Congenital high airway obstruction syndrome - - Clinical syndrome - - - - - - - - - - - - 183557 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183557 - Genetic developmental defect of the eye - - Category - - - - - - 88632 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88632 - Anterior segment developmental anomaly - - Category - - - - - - - - 98594 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98594 - Rare eyebrow/eyelash disorder - - Category - - - - - - 33001 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33001 - Lymphedema-distichiasis syndrome - - Malformation syndrome - - - - - - - - 99177 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99177 - Isolated distichiasis - - Morphological anomaly - - - - - - - - - - 522540 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=522540 - Anterior segment developmental anomaly of genetic origin - - Category - - - - - - 519276 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519276 - Anterior segment developmental abnormality with extraocular manifestations - - Category - - - - - - 96125 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96125 - Distal deletion 6p syndrome - - Malformation syndrome - - - - - - - - 98557 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98557 - Syndromic aniridia - - Category - - - - - - 893 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=893 - WAGR syndrome - - Malformation syndrome - - - - - - - - 1065 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1065 - Aniridia-cerebellar ataxia-intellectual disability syndrome - - Malformation syndrome - - - - - - - - 1064 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1064 - Aniridia-renal agenesis-psychomotor retardation syndrome - - Malformation syndrome - - - - - - - - 1069 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1069 - Aniridia-absent patella syndrome - - Malformation syndrome - - - - - - - - 1067 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1067 - Aniridia-ptosis-intellectual disability-familial obesity syndrome - - Malformation syndrome - - - - - - - - 1068 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1068 - Aniridia-intellectual disability syndrome - - Malformation syndrome - - - - - - - - - - 1473 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1473 - Uveal coloboma-cleft lip and palate-intellectual disability - - Malformation syndrome - - - - - - - - 2090 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2090 - GMS syndrome - - Malformation syndrome - - - - - - - - 2670 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2670 - Pierson syndrome - - Malformation syndrome - - - - - - - - 3163 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3163 - SHORT syndrome - - Malformation syndrome - - - - - - - - 782 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=782 - Axenfeld-Rieger syndrome - - Malformation syndrome - - - - - - - - 195 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=195 - Cat-eye syndrome - - Malformation syndrome - - - - - - - - 139450 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139450 - Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome - - Malformation syndrome - - - - - - - - 52 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52 - Alagille syndrome - - Malformation syndrome - - - - - - 261600 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261600 - Alagille syndrome due to 20p12 microdeletion - - Etiological subtype - - - - - - - - 261619 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261619 - Alagille syndrome due to a JAG1 point mutation - - Etiological subtype - - - - - - - - 261629 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261629 - Alagille syndrome due to a NOTCH2 point mutation - - Etiological subtype - - - - - - - - - - 709 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=709 - Peters plus syndrome - - Malformation syndrome - - - - - - - - 506307 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=506307 - Stromme syndrome - - Malformation syndrome - - - - - - - - 52055 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52055 - Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome - - Malformation syndrome - - - - - - - - 2321 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2321 - Jung syndrome - - Malformation syndrome - - - - - - - - - - 98634 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98634 - Anterior segment developmental anomaly without extraocular manifestations - - Category - - - - - - 69736 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69736 - Bilateral acute depigmentation of the iris - - Disease - - - - - - - - 98978 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98978 - Axenfeld anomaly - - Morphological anomaly - - - - - - - - 566 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=566 - Congenital microcoria - - Malformation syndrome - - - - - - - - 91483 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91483 - Rieger anomaly - - Morphological anomaly - - - - - - - - 708 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=708 - Peters anomaly - - Morphological anomaly - - - - - - - - 250923 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=250923 - Isolated aniridia - - Morphological anomaly - - - - - - - - 519388 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519388 - Autosomal recessive anterior segment dysgenesis - - Malformation syndrome - - - - - - - - 91491 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91491 - Congenital ectropion uveae - - Malformation syndrome - - - - - - - - 98944 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98944 - Coloboma of iris - - Morphological anomaly - - - - - - - - 488197 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488197 - Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome - - Disease - - - - - - - - - - - - 522550 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=522550 - Lens size anomaly of genetic origin - - Category - - - - - - 519294 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519294 - Syndromic microspherophakia - - Category - - - - - - 2551 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2551 - Microspherophakia-metaphyseal dysplasia syndrome - - Malformation syndrome - - - - - - - - 3086 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3086 - Autosomal dominant vitreoretinochoroidopathy - - Disease - - - - - - - - 3449 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3449 - Weill-Marchesani syndrome - - Malformation syndrome - - - - - - - - 85194 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85194 - Spondylo-ocular syndrome - - Malformation syndrome - - - - - - - - 363992 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363992 - Ichthyosis-short stature-brachydactyly-microspherophakia syndrome - - Disease - - - - - - - - 2084 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2084 - Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome - - Malformation syndrome - - - - - - - - - - - - 156005 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156005 - Primary early-onset glaucoma - - Clinical group - - - - - - 98976 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98976 - Congenital glaucoma - - Disease - - - - - - - - 98977 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98977 - Juvenile glaucoma - - Disease - - - - - - - - - - 137905 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137905 - Syndromic optic nerve hypoplasia - - Category - - - - - - 3157 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3157 - Septo-optic dysplasia spectrum - - Malformation syndrome - - - - - - - - 250972 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=250972 - Polymicrogyria with optic nerve hypoplasia - - Malformation syndrome - - - - - - - - 603494 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=603494 - Coloboma-osteopetrosis-microphthalmia-macrocephaly-albinism-deafness syndrome - - Malformation syndrome - - - - - - - - - - 522514 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=522514 - Congenital optic disc excavation of genetic origin - - Category - - - - - - 35737 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35737 - Morning glory disc anomaly - - Morphological anomaly - - - - - - - - 98947 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98947 - Coloboma of optic disc - - Morphological anomaly - - - - - - - - 464760 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464760 - Familial cavitary optic disc anomaly - - Morphological anomaly - - - - - - - - - - 519345 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519345 - Rare disorder with optic disc malformation - - Category - - - - - - 1475 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1475 - Renal coloboma syndrome - - Malformation syndrome - - - - - - - - 435930 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435930 - Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome - - Disease - - - - - - - - 52055 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52055 - Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome - - Malformation syndrome - - - - - - - - 324737 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324737 - SRD5A3-CDG - - Disease - - - - - - - - - - 522526 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=522526 - Rare genetic palpebral disorder - - Category - - - - - - 98561 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98561 - Congenital malformation of the eyelid - - Category - - - - - - 98562 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98562 - Cryptophthalmia - - Category - - - - - - 2052 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2052 - Fraser syndrome - - Malformation syndrome - - - - - - - - 91396 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91396 - Isolated cryptophthalmia - - Morphological anomaly - - - - - - 98948 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98948 - Congenital symblepharon - - Clinical subtype - - - - - - - - 98949 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98949 - Complete cryptophthalmia - - Clinical subtype - - - - - - - - 98950 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98950 - Partial cryptophthalmia - - Clinical subtype - - - - - - - - - - - - 98563 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98563 - Microblepharon-ablephara syndrome - - Clinical group - - - - - - 2671 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2671 - Neu-Laxova syndrome - - Malformation syndrome - - - - - - 583602 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=583602 - Neu-Laxova syndrome due to phosphoserine aminotransferase deficiency - - Etiological subtype - - - - - - - - 583607 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=583607 - Neu-Laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency - - Etiological subtype - - - - - - - - 583612 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=583612 - Neu-Laxova syndrome due to 3-phosphoserine phosphatase deficiency - - Etiological subtype - - - - - - - - - - 920 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=920 - Ablepharon macrostomia syndrome - - Malformation syndrome - - - - - - - - - - 98564 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98564 - Eyelid border anomaly - - Category - - - - - - 91397 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91397 - Isolated ankyloblepharon filiforme adnatum - - Morphological anomaly - - - - - - - - 98565 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98565 - Syndromic ankyloblepharon filiforme adnatum - - Category - - - - - - 294963 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294963 - Popliteal pterygium syndrome - - Clinical group - - - - - - 1234 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1234 - Bartsocas-Papas syndrome - - Malformation syndrome - - - - - - - - 1300 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1300 - Autosomal dominant popliteal pterygium syndrome - - Malformation syndrome - - - - - - - - - - 85275 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85275 - Microphthalmia-ankyloblepharon-intellectual disability syndrome - - Malformation syndrome - - - - - - - - 1071 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1071 - Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome - - Malformation syndrome - - - - - - 1072 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1072 - Ankyloblepharon filiforme adnatum-cleft palate syndrome - - Clinical subtype - - - - - - - - 1074 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1074 - Ankyloblepharon filiforme adnatum-imperforate anus syndrome - - Clinical subtype - - - - - - - - - - 1791 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1791 - Frontofacionasal dysplasia - - Malformation syndrome - - - - - - - - - - 98566 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98566 - Syndromic eyelid coloboma - - Category - - - - - - 1234 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1234 - Bartsocas-Papas syndrome - - Malformation syndrome - - - - - - - - 2717 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2717 - Oculotrichoanal syndrome - - Malformation syndrome - - - - - - - - 861 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=861 - Treacher-Collins syndrome - - Malformation syndrome - - - - - - - - 245 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=245 - Nager syndrome - - Malformation syndrome - - - - - - - - 246 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=246 - Postaxial acrofacial dysostosis - - Malformation syndrome - - - - - - - - 1791 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1791 - Frontofacionasal dysplasia - - Malformation syndrome - - - - - - - - 2399 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2399 - Nasopalpebral lipoma-coloboma syndrome - - Malformation syndrome - - - - - - - - - - 98946 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98946 - Coloboma of eyelid - - Morphological anomaly - - - - - - - - - - 99176 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99176 - Congenital eyelid retraction - - Morphological anomaly - - - - - - - - - - 522528 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=522528 - Rare genetic eyelid malposition disorder - - Category - - - - - - 1253 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1253 - Ascher syndrome - - Malformation syndrome - - - - - - - - 98574 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98574 - Syndromic epicanthus - - Category - - - - - - 881 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=881 - Turner syndrome - - Malformation syndrome - - - - - - 99226 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99226 - Monosomy X syndrome - - Etiological subtype - - - - - - - - 99228 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99228 - Mosaic monosomy X syndrome - - Etiological subtype - - - - - - - - 99413 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99413 - Turner syndrome due to structural X chromosome anomalies - - Etiological subtype - - - - - - - - - - 870 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=870 - Down syndrome - - Malformation syndrome - - - - - - - - 904 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=904 - Williams syndrome - - Malformation syndrome - - - - - - - - 281 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=281 - Monosomy 5p syndrome - - Malformation syndrome - - - - - - - - 1587 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1587 - Monosomy 13q14 syndrome - - Malformation syndrome - - - - - - - - 1705 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1705 - Distal duplication 14q syndrome - - Malformation syndrome - - - - - - - - 559 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=559 - Marinesco-Sjögren syndrome - - Disease - - - - - - - - 818 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=818 - Smith-Lemli-Opitz syndrome - - Malformation syndrome - - - - - - - - 48431 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=48431 - Congenital cataracts-facial dysmorphism-neuropathy syndrome - - Malformation syndrome - - - - - - - - - - 98575 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98575 - Syndromic telecanthus - - Category - - - - - - 894 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=894 - Waardenburg syndrome type 1 - - Clinical subtype - - - - - - - - 896 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=896 - Waardenburg syndrome type 3 - - Clinical subtype - - - - - - - - 2707 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2707 - Oculocerebrofacial syndrome, Kaufman type - - Malformation syndrome - - - - - - - - 126 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=126 - Blepharophimosis-ptosis-epicanthus inversus syndrome - - Malformation syndrome - - - - - - 572354 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572354 - Blepharophimosis-ptosis-epicanthus inversus syndrome type 1 - - Clinical subtype - - - - - - - - 572361 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572361 - Blepharophimosis-ptosis-epicanthus inversus syndrome type 2 - - Clinical subtype - - - - - - - - - - 2745 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2745 - Opitz GBBB syndrome - - Malformation syndrome - - - - - - - - 572333 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572333 - Blepharophimosis-ptosis-epicanthus inversus syndrome plus - - Malformation syndrome - - - - - - - - - - 98576 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98576 - Syndromic outer canthal malposition - - Category - - - - - - 870 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=870 - Down syndrome - - Malformation syndrome - - - - - - - - 2701 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2701 - Noonan syndrome-like disorder with loose anagen hair - - Malformation syndrome - - - - - - - - 648 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=648 - Noonan syndrome - - Malformation syndrome - - - - - - - - 861 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=861 - Treacher-Collins syndrome - - Malformation syndrome - - - - - - - - 245 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=245 - Nager syndrome - - Malformation syndrome - - - - - - - - - - 98578 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98578 - Rare disorder with ptosis - - Category - - - - - - 2308 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2308 - Jacobsen syndrome - - Malformation syndrome - - - - - - - - 1323 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1323 - Camptodactyly-joint contractures-facial skeletal defects syndrome - - Malformation syndrome - - - - - - - - 273 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=273 - Steinert myotonic dystrophy - - Disease - - - - - - 589824 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589824 - Childhood-onset Steinert myotonic dystrophy - - Clinical subtype - - - - - - - - 589827 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589827 - Juvenile-onset Steinert myotonic dystrophy - - Clinical subtype - - - - - - - - 589830 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589830 - Adult-onset Steinert myotonic dystrophy - - Clinical subtype - - - - - - - - 589833 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589833 - Late-onset Steinert myotonic dystrophy - - Clinical subtype - - - - - - - - 589821 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589821 - Congenital-onset Steinert myotonic dystrophy - - Clinical subtype - - - - - - - - - - 580 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=580 - Mucopolysaccharidosis type 2 - - Disease - - - - - - 217085 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217085 - Mucopolysaccharidosis type 2, severe form - - Clinical subtype - - - - - - - - 217093 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217093 - Mucopolysaccharidosis type 2, attenuated form - - Clinical subtype - - - - - - - - - - 648 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=648 - Noonan syndrome - - Malformation syndrome - - - - - - - - 794 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=794 - Saethre-Chotzen syndrome - - Malformation syndrome - - - - - - - - 126 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=126 - Blepharophimosis-ptosis-epicanthus inversus syndrome - - Malformation syndrome - - - - - - 572354 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572354 - Blepharophimosis-ptosis-epicanthus inversus syndrome type 1 - - Clinical subtype - - - - - - - - 572361 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572361 - Blepharophimosis-ptosis-epicanthus inversus syndrome type 2 - - Clinical subtype - - - - - - - - - - 861 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=861 - Treacher-Collins syndrome - - Malformation syndrome - - - - - - - - 199 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199 - Cornelia de Lange syndrome - - Malformation syndrome - - - - - - - - 596 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=596 - X-linked centronuclear myopathy - - Disease - - - - - - - - 235 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=235 - Dubowitz syndrome - - Malformation syndrome - - - - - - - - 606 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=606 - Proximal myotonic myopathy - - Disease - - - - - - - - 270 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=270 - Oculopharyngeal muscular dystrophy - - Disease - - - - - - - - 1876 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1876 - Oculogastrointestinal muscular dystrophy - - Disease - - - - - - - - 127 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=127 - Borjeson-Forssman-Lehmann syndrome - - Malformation syndrome - - - - - - - - 1352 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1352 - Atrioventricular defect-blepharophimosis-radial and anal defect syndrome - - Malformation syndrome - - - - - - - - 2057 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2057 - Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome - - Malformation syndrome - - - - - - - - 2980 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2980 - Acrootoocular syndrome - - Malformation syndrome - - - - - - - - 2997 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2997 - Ptosis-vocal cord paralysis syndrome - - Malformation syndrome - - - - - - - - 2999 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2999 - Ptosis-strabismus-ectopic pupils syndrome - - Malformation syndrome - - - - - - - - 2995 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2995 - Baraitser-Winter cerebrofrontofacial syndrome - - Malformation syndrome - - - - - - - - 663 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=663 - Mitochondrial DNA-related progressive external ophthalmoplegia - - Disease - - - - - - - - 818 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=818 - Smith-Lemli-Opitz syndrome - - Malformation syndrome - - - - - - - - 298 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=298 - Mitochondrial neurogastrointestinal encephalomyopathy - - Disease - - - - - - - - 590 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=590 - Congenital myasthenic syndrome - - Disease - - - - - - 98913 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98913 - Postsynaptic congenital myasthenic syndromes - - Etiological subtype - - - - - - - - 98914 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98914 - Presynaptic congenital myasthenic syndromes - - Etiological subtype - - - - - - - - 98915 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98915 - Synaptic congenital myasthenic syndromes - - Etiological subtype - - - - - - - - 353327 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353327 - Congenital myasthenic syndromes with glycosylation defect - - Etiological subtype - - - - - - - - - - 230 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=230 - Dopamine beta-hydroxylase deficiency - - Disease - - - - - - - - 45358 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=45358 - Congenital fibrosis of extraocular muscles - - Disease - - - - - - - - 46627 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=46627 - Char syndrome - - Malformation syndrome - - - - - - - - 66629 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66629 - Goldberg-Shprintzen megacolon syndrome - - Malformation syndrome - - - - - - - - 91411 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91411 - Congenital ptosis - - Disease - - - - - - - - 91412 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91412 - Marcus-Gunn syndrome - - Disease - - - - - - 98951 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98951 - Inverse Marcus-Gunn phenomenon - - Clinical subtype - - - - - - - - 101104 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101104 - Marin-Amat syndrome - - Clinical subtype - - - - - - - - - - 91413 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91413 - Congenital Horner syndrome - - Disease - - - - - - - - 98897 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98897 - Oculopharyngodistal myopathy - - Disease - - - - - - - - 228396 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228396 - Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome - - Malformation syndrome - - - - - - - - 293642 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293642 - Blepharophimosis-intellectual disability syndrome - - Clinical group - - - - - - 1620 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1620 - Distal deletion 3p syndrome - - Malformation syndrome - - - - - - - - 2728 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2728 - Blepharophimosis-intellectual disability syndrome, Ohdo type - - Malformation syndrome - - - - - - - - 3047 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3047 - Blepharophimosis-intellectual disability syndrome, SBBYS type - - Malformation syndrome - - - - - - - - 293707 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293707 - Blepharophimosis-intellectual disability syndrome, MKB type - - Malformation syndrome - - - - - - - - 293725 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293725 - Blepharophimosis-intellectual disability syndrome, Verloes type - - Malformation syndrome - - - - - - - - 637013 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=637013 - SMARCA2-related blepharophimosis-intellectual disability syndrome - - Malformation syndrome - - - - - - - - 700160 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700160 - ADNP-related blepharophimosis-intellectual disability syndrome - - Disease - - - - - - - - - - 502430 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=502430 - Weiss-Kruszka Syndrome - - Malformation syndrome - - - - - - - - 572333 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572333 - Blepharophimosis-ptosis-epicanthus inversus syndrome plus - - Malformation syndrome - - - - - - - - - - 99169 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99169 - Epiblepharon - - Morphological anomaly - - - - - - - - 99172 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99172 - Euryblepharon - - Morphological anomaly - - - - - - - - 519268 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519268 - Rare disorder with ectropion - - Category - - - - - - 98571 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98571 - Secondary ectropion - - Category - - - - - - 2269 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2269 - Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome - - Disease - - - - - - - - 910 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=910 - Xeroderma pigmentosum - - Disease - - - - - - - - 90342 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90342 - Xeroderma pigmentosum variant - - Disease - - - - - - - - 220295 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220295 - Xeroderma pigmentosum-Cockayne syndrome complex - - Disease - - - - - - - - 281097 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=281097 - Autosomal recessive congenital ichthyosis - - Clinical group - - - - - - 313 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313 - Lamellar ichthyosis - - Disease - - - - - - - - 457 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457 - Harlequin ichthyosis - - Disease - - - - - - - - 79394 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79394 - Congenital ichthyosiform erythroderma - - Disease - - - - - - - - 100976 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100976 - Bathing suit ichthyosis - - Disease - - - - - - - - 281122 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=281122 - Self-improving collodion baby - - Disease - - - - - - - - 281127 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=281127 - Acral self-healing collodion baby - - Disease - - - - - - - - 289586 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289586 - Exfoliative ichthyosis - - Disease - - - - - - - - - - 870 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=870 - Down syndrome - - Malformation syndrome - - - - - - - - 246 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=246 - Postaxial acrofacial dysostosis - - Malformation syndrome - - - - - - - - 1231 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1231 - Barber-Say syndrome - - Malformation syndrome - - - - - - - - - - 98570 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98570 - Congenital ectropion - - Category - - - - - - 1997 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1997 - Blepharo-cheilo-odontic syndrome - - Malformation syndrome - - - - - - - - 2322 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2322 - Kabuki syndrome - - Malformation syndrome - - - - - - - - 99171 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99171 - Isolated congenital ectropion - - Morphological anomaly - - - - - - - - 357158 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357158 - Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome - - Disease - - - - - - - - - - - - 522530 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=522530 - Rare genetic disorder with entropion - - Category - - - - - - 910 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=910 - Xeroderma pigmentosum - - Disease - - - - - - - - 90342 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90342 - Xeroderma pigmentosum variant - - Disease - - - - - - - - 99170 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99170 - Tarsal kink syndrome - - Morphological anomaly - - - - - - - - 220295 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220295 - Xeroderma pigmentosum-Cockayne syndrome complex - - Disease - - - - - - - - - - - - - - 522552 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=522552 - Lens position anomaly of genetic origin - - Category - - - - - - 1885 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1885 - Isolated ectopia lentis - - Malformation syndrome - - - - - - - - 522554 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=522554 - Syndromic genetic ectopia lentis - - Category - - - - - - 558 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=558 - Marfan syndrome - - Disease - - - - - - 284963 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284963 - Marfan syndrome type 1 - - Clinical subtype - - - - - - - - 284973 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284973 - Marfan syndrome type 2 - - Clinical subtype - - - - - - - - - - 394 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=394 - Homocystinuria due to cystathionine beta-synthase deficiency - - Disease - - - - - - - - 833 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=833 - Encephalopathy due to sulfite oxidase deficiency - - Disease - - - - - - 99731 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99731 - Isolated sulfite oxidase deficiency - - Clinical subtype - - - - - - - - 99732 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99732 - Sulfite oxidase deficiency due to molybdenum cofactor deficiency - - Clinical subtype - - - - - - 308386 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308386 - Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A - - Etiological subtype - - - - - - - - 308393 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308393 - Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B - - Etiological subtype - - - - - - - - 308400 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308400 - Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C - - Etiological subtype - - - - - - - - - - - - 560 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=560 - Marshall syndrome - - Malformation syndrome - - - - - - - - 1068 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1068 - Aniridia-intellectual disability syndrome - - Malformation syndrome - - - - - - - - 1259 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1259 - Blepharoptosis-myopia-ectopia lentis syndrome - - Disease - - - - - - - - 2084 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2084 - Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome - - Malformation syndrome - - - - - - - - 2092 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2092 - Focal dermal hypoplasia - - Malformation syndrome - - - - - - - - 2325 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2325 - Epidermolysis bullosa simplex with anodontia/hypodontia - - Malformation syndrome - - - - - - - - 2551 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2551 - Microspherophakia-metaphyseal dysplasia syndrome - - Malformation syndrome - - - - - - - - 3449 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3449 - Weill-Marchesani syndrome - - Malformation syndrome - - - - - - - - 171844 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171844 - Blindness-scoliosis-arachnodactyly syndrome - - Malformation syndrome - - - - - - - - 412022 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=412022 - Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome - - Malformation syndrome - - - - - - - - - - - - 525677 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=525677 - Genetic congenital malformation of the eye with glaucoma as a major feature - - Category - - - - - - 792 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=792 - X-linked retinoschisis - - Malformation syndrome - - - - - - - - 190 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=190 - Coats disease - - Disease - - - - - - - - 35612 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35612 - Nanophthalmos - - Malformation syndrome - - - - - - - - 64734 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64734 - Iridocorneal endothelial syndrome - - Disease - - - - - - 98979 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98979 - Chandler syndrome - - Clinical subtype - - - - - - - - 98980 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98980 - Cogan-Reese syndrome - - Clinical subtype - - - - - - - - 98981 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98981 - Essential iris atrophy - - Clinical subtype - - - - - - - - - - 98634 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98634 - Anterior segment developmental anomaly without extraocular manifestations - - Category - - - - - - 69736 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69736 - Bilateral acute depigmentation of the iris - - Disease - - - - - - - - 98978 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98978 - Axenfeld anomaly - - Morphological anomaly - - - - - - - - 566 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=566 - Congenital microcoria - - Malformation syndrome - - - - - - - - 91483 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91483 - Rieger anomaly - - Morphological anomaly - - - - - - - - 708 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=708 - Peters anomaly - - Morphological anomaly - - - - - - - - 250923 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=250923 - Isolated aniridia - - Morphological anomaly - - - - - - - - 519388 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519388 - Autosomal recessive anterior segment dysgenesis - - Malformation syndrome - - - - - - - - 91491 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91491 - Congenital ectropion uveae - - Malformation syndrome - - - - - - - - 98944 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98944 - Coloboma of iris - - Morphological anomaly - - - - - - - - 488197 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488197 - Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome - - Disease - - - - - - - - - - 98973 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98973 - Posterior polymorphous corneal dystrophy - - Disease - - - - - - - - 238763 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238763 - Glaucoma secondary to spherophakia/ectopia lentis and megalocornea - - Malformation syndrome - - - - - - - - - - 637064 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=637064 - Isolated optic nerve aplasia - - Morphological anomaly - - - - - - - - 83461 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83461 - Congenital primary aphakia - - Malformation syndrome - - - - - - - - 98655 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98655 - Lens shape anomaly - - Category - - - - - - 138 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=138 - CHARGE syndrome - - Malformation syndrome - - - - - - - - 783 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=783 - Rubinstein-Taybi syndrome - - Malformation syndrome - - - - - - 353277 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353277 - Rubinstein-Taybi syndrome due to CREBBP mutations - - Etiological subtype - - - - - - - - 353281 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353281 - Rubinstein-Taybi syndrome due to 16p13.3 microdeletion - - Etiological subtype - - - - - - - - 353284 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353284 - Rubinstein-Taybi syndrome due to EP300 haploinsufficiency - - Etiological subtype - - - - - - - - - - 564 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=564 - Meckel syndrome - - Malformation syndrome - - - - - - - - 568 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=568 - Microphthalmia, Lenz type - - Malformation syndrome - - - - - - - - 63 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=63 - Alport syndrome - - Disease - - - - - - 88917 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88917 - X-linked Alport syndrome - - Clinical subtype - - - - - - - - 88918 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88918 - Autosomal dominant Alport syndrome - - Clinical subtype - - - - - - - - 88919 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88919 - Autosomal recessive Alport syndrome - - Clinical subtype - - - - - - - - 1018 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1018 - X-linked Alport syndrome-diffuse leiomyomatosis - - Clinical subtype - - - - - - - - 653722 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=653722 - Digenic Alport syndrome - - Clinical subtype - - - - - - - - - - 2092 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2092 - Focal dermal hypoplasia - - Malformation syndrome - - - - - - - - - - 98945 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98945 - Coloboma of macula - - Morphological anomaly - - - - - - - - 522536 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=522536 - Structural developmental eye defect of genetic origin - - Category - - - - - - 659904 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=659904 - Multiple congenital anomalies-neurodevelopmental delay-ocular abnormalities syndrome - - Malformation syndrome - - - - - - - - 2484 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2484 - Melnick-Needles syndrome - - Malformation syndrome - - - - - - - - 98555 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98555 - Microphthalmia-anophthalmia-coloboma - - Category - - - - - - 2542 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2542 - Isolated microphthalmia-anophthalmia-coloboma - - Clinical group - - - - - - 35612 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35612 - Nanophthalmos - - Malformation syndrome - - - - - - - - 98938 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98938 - Colobomatous microphthalmia - - Malformation syndrome - - - - - - - - - - 202948 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=202948 - Syndromic microphthalmia-anophthalmia-coloboma - - Category - - - - - - 1466 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1466 - COFS syndrome - - Clinical subtype - - - - - - - - 1806 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1806 - Ectodermal dysplasia-blindness syndrome - - Malformation syndrome - - - - - - - - 251279 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251279 - Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome - - Disease - - - - - - - - 1106 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1106 - Microphthalmia with limb anomalies - - Malformation syndrome - - - - - - - - 2547 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2547 - Microphthalmia-microtia-fetal akinesia syndrome - - Malformation syndrome - - - - - - - - 568 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=568 - Microphthalmia, Lenz type - - Malformation syndrome - - - - - - - - 2470 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2470 - Matthew-Wood syndrome - - Malformation syndrome - - - - - - - - 2510 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2510 - Micro syndrome - - Malformation syndrome - - - - - - - - 2556 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2556 - Microphthalmia with linear skin defects syndrome - - Malformation syndrome - - - - - - - - 2712 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2712 - Oculofaciocardiodental syndrome - - Malformation syndrome - - - - - - - - 3434 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3434 - MMEP syndrome - - Malformation syndrome - - - - - - - - 77298 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77298 - Anophthalmia/microphthalmia-esophageal atresia syndrome - - Malformation syndrome - - - - - - - - 77299 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77299 - Microphthalmia-brain atrophy syndrome - - Malformation syndrome - - - - - - - - 85275 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85275 - Microphthalmia-ankyloblepharon-intellectual disability syndrome - - Malformation syndrome - - - - - - - - 139471 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139471 - Microphthalmia with brain and digit anomalies - - Malformation syndrome - - - - - - - - 178364 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178364 - Syndromic microphthalmia type 5 - - Malformation syndrome - - - - - - - - 363741 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363741 - Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome - - Disease - - - - - - - - 424099 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424099 - Colobomatous microphthalmia-rhizomelic dysplasia syndrome - - Malformation syndrome - - - - - - - - 431140 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=431140 - X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome - - Malformation syndrome - - - - - - - - 1647 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1647 - Oculocerebrocutaneous syndrome - - Malformation syndrome - - - - - - - - 157962 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157962 - Oculoauricular syndrome, Schorderet type - - Malformation syndrome - - - - - - - - 611201 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=611201 - Oculogastrointestinal-neurodevelopmental syndrome - - Malformation syndrome - - - - - - - - 689829 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=689829 - Microphthalmia-motor delay-language delay-brain anomalies-diaphragmatic hernia syndrome - - Disease - - - - - - - - 603494 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=603494 - Coloboma-osteopetrosis-microphthalmia-macrocephaly-albinism-deafness syndrome - - Malformation syndrome - - - - - - - - 2432 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2432 - Macrosomia-microphthalmia-cleft palate syndrome - - Malformation syndrome - - - - - - - - - - - - 363396 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363396 - High myopia-sensorineural deafness syndrome - - Disease - - - - - - - - 468672 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=468672 - Colobomatous macrophthalmia-microcornea syndrome - - Disease - - - - - - - - - - 91494 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91494 - Macular coloboma-cleft palate-hallux valgus syndrome - - Malformation syndrome - - - - - - - - 98943 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98943 - Coloboma of eye lens - - Morphological anomaly - - - - - - - - 98635 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98635 - Corneodysgenesis - - Category - - - - - - 91489 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91489 - Isolated congenital megalocornea - - Morphological anomaly - - - - - - - - 91490 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91490 - Isolated congenital sclerocornea - - Morphological anomaly - - - - - - - - - - 522534 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=522534 - Lacrimal drainage system anomaly of genetic origin - - Category - - - - - - 451612 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=451612 - Familial congenital nasolacrimal duct obstruction - - Morphological anomaly - - - - - - - - 519274 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519274 - Syndromic lacrimal system disorder - - Category - - - - - - 1775 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1775 - Dyskeratosis congenita - - Disease - - - - - - - - 98606 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98606 - Syndromic orbital border hypoplasia - - Malformation syndrome - - - - - - - - 228396 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228396 - Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome - - Malformation syndrome - - - - - - - - - - - - 1471 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1471 - Coloboma of macula-brachydactyly type B syndrome - - Malformation syndrome - - - - - - - - 91492 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91492 - Early onset non-syndromic cataract - - Disease - - - - - - 98992 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98992 - Early-onset partial cataract - - Clinical subtype - - - - - - 98984 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98984 - Pulverulent cataract - - Clinical subtype - - - - - - - - 98988 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98988 - Early-onset anterior polar cataract - - Clinical subtype - - - - - - - - 98989 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98989 - Cerulean cataract - - Clinical subtype - - - - - - - - 98990 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98990 - Coralliform cataract - - Clinical subtype - - - - - - - - 98993 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98993 - Early-onset posterior polar cataract - - Clinical subtype - - - - - - - - 98995 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98995 - Early-onset zonular cataract - - Clinical subtype - - - - - - 98985 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98985 - Early-onset sutural cataract - - Clinical subtype - - - - - - - - 98991 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98991 - Early-onset nuclear cataract - - Clinical subtype - - - - - - - - 441452 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=441452 - Early-onset lamellar cataract - - Clinical subtype - - - - - - - - - - 441447 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=441447 - Early-onset posterior subcapsular cataract - - Clinical subtype - - - - - - - - - - 98994 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98994 - Total early-onset cataract - - Clinical subtype - - - - - - - - - - 53691 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53691 - Congenital cornea plana - - Morphological anomaly - - - - - - - - 98942 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98942 - Coloboma of choroid and retina - - Morphological anomaly - - - - - - - - 637061 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=637061 - Isolated optic nerve hypoplasia - - Morphological anomaly - - - - - - - - - - 183570 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183570 - Genetic malformation syndrome with short stature - - Category - - - - - - 459061 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=459061 - Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome - - Malformation syndrome - - - - - - - - 659702 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=659702 - Intrauterine growth retardation-micrognathia-short stature-facial dysmorphism-rhizomelic shortening syndrome - - Malformation syndrome - - - - - - - - 664377 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=664377 - MGP-related spondyloepiphyseal dysplasia - - Malformation syndrome - - - - - - - - 659642 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=659642 - Rauch-Steindl syndrome - - Malformation syndrome - - - - - - - - 633004 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=633004 - KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome - - Disease - - - - - - - - 686488 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=686488 - RNU4-2-related neurodevelopmental disorder-facial dysmorphism-white matter abnormalities-short stature syndrome - - Malformation syndrome - - - - - - - - 694946 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=694946 - Alazami-Yuan syndrome - - Malformation syndrome - - - - - - - - 1292 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1292 - Brachymorphism-onychodysplasia-dysphalangism syndrome - - Malformation syndrome - - - - - - - - 902 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=902 - Werner syndrome - - Disease - - - - - - - - 783 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=783 - Rubinstein-Taybi syndrome - - Malformation syndrome - - - - - - 353277 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353277 - Rubinstein-Taybi syndrome due to CREBBP mutations - - Etiological subtype - - - - - - - - 353281 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353281 - Rubinstein-Taybi syndrome due to 16p13.3 microdeletion - - Etiological subtype - - - - - - - - 353284 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353284 - Rubinstein-Taybi syndrome due to EP300 haploinsufficiency - - Etiological subtype - - - - - - - - - - 199 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199 - Cornelia de Lange syndrome - - Malformation syndrome - - - - - - - - 915 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=915 - Aarskog-Scott syndrome - - Malformation syndrome - - - - - - - - 125 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=125 - Bloom syndrome - - Disease - - - - - - - - 235 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=235 - Dubowitz syndrome - - Malformation syndrome - - - - - - - - 813 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=813 - Silver-Russell syndrome - - Disease - - - - - - 96182 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96182 - Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 - - Etiological subtype - - - - - - - - 231137 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231137 - Silver-Russell syndrome due to 7p11.2p13 microduplication - - Etiological subtype - - - - - - - - 231140 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231140 - Silver-Russell syndrome due to an imprinting defect of 11p15 - - Etiological subtype - - - - - - - - 231144 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231144 - Silver-Russell syndrome due to 11p15 microduplication - - Etiological subtype - - - - - - - - 231147 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231147 - Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 - - Etiological subtype - - - - - - - - 397590 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397590 - Silver-Russell syndrome due to a point mutation - - Etiological subtype - - - - - - - - - - 1974 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1974 - Autosomal recessive faciodigitogenital syndrome - - Malformation syndrome - - - - - - - - 2044 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2044 - Floating-Harbor syndrome - - Malformation syndrome - - - - - - - - 2108 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2108 - Hallermann-Streiff syndrome - - Malformation syndrome - - - - - - - - 2315 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2315 - Johanson-Blizzard syndrome - - Malformation syndrome - - - - - - - - 2322 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2322 - Kabuki syndrome - - Malformation syndrome - - - - - - - - 2333 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2333 - Kenny-Caffey syndrome - - Malformation syndrome - - - - - - 93324 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93324 - Autosomal recessive Kenny-Caffey syndrome - - Etiological subtype - - - - - - - - 93325 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93325 - Autosomal dominant Kenny-Caffey syndrome - - Etiological subtype - - - - - - - - - - 2576 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2576 - Mulibrey nanism - - Malformation syndrome - - - - - - - - 2616 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2616 - 3M syndrome - - Malformation syndrome - - - - - - - - 3163 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3163 - SHORT syndrome - - Malformation syndrome - - - - - - - - 818 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=818 - Smith-Lemli-Opitz syndrome - - Malformation syndrome - - - - - - - - 97360 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97360 - Robinow syndrome - - Malformation syndrome - - - - - - 1507 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1507 - Autosomal recessive Robinow syndrome - - Clinical subtype - - - - - - - - 3107 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3107 - Autosomal dominant Robinow syndrome - - Clinical subtype - - - - - - - - - - 98733 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98733 - Noonan syndrome and Noonan-related syndrome - - Category - - - - - - 648 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=648 - Noonan syndrome - - Malformation syndrome - - - - - - - - 3071 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3071 - Costello syndrome - - Malformation syndrome - - - - - - - - 500 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500 - Noonan syndrome with multiple lentigines - - Malformation syndrome - - - - - - - - 1340 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1340 - Cardiofaciocutaneous syndrome - - Malformation syndrome - - - - - - - - 2701 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2701 - Noonan syndrome-like disorder with loose anagen hair - - Malformation syndrome - - - - - - - - 363972 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363972 - Noonan syndrome-like disorder with juvenile myelomonocytic leukemia - - Malformation syndrome - - - - - - - - 638 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=638 - Neurofibromatosis-Noonan syndrome - - Malformation syndrome - - - - - - - - - - 99741 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99741 - King-Denborough syndrome - - Malformation syndrome - - - - - - - - 217026 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217026 - Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type - - Malformation syndrome - - - - - - - - 352712 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352712 - Facial dysmorphism-immunodeficiency-livedo-short stature syndrome - - Disease - - - - - - - - 391677 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391677 - Short stature-optic atrophy-Pelger-Huët anomaly syndrome - - Malformation syndrome - - - - - - - - 420794 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420794 - Cono-spondylar dysplasia - - Malformation syndrome - - - - - - - - 423306 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423306 - Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome - - Malformation syndrome - - - - - - - - 424099 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424099 - Colobomatous microphthalmia-rhizomelic dysplasia syndrome - - Malformation syndrome - - - - - - - - 431140 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=431140 - X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome - - Malformation syndrome - - - - - - - - 444077 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444077 - Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome - - Malformation syndrome - - - - - - - - 904 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=904 - Williams syndrome - - Malformation syndrome - - - - - - - - 397623 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397623 - Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome - - Malformation syndrome - - - - - - - - 2714 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2714 - Oculo-palato-cerebral syndrome - - Malformation syndrome - - - - - - - - 457240 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457240 - X-linked intellectual disability-short stature-overweight syndrome - - Malformation syndrome - - - - - - - - 457365 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457365 - Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome - - Malformation syndrome - - - - - - - - 457395 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457395 - Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome - - Malformation syndrome - - - - - - - - 1937 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1937 - Eng-Strom syndrome - - Malformation syndrome - - - - - - - - 1964 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1964 - Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome - - Malformation syndrome - - - - - - - - 476406 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=476406 - Congenital generalized hypercontractile muscle stiffness syndrome - - Disease - - - - - - - - 480880 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480880 - X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability - - Malformation syndrome - - - - - - - - 488618 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488618 - Transketolase deficiency - - Malformation syndrome - - - - - - - - 494439 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=494439 - Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome - - Malformation syndrome - - - - - - - - 508488 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508488 - 8q24.3 microdeletion syndrome - - Malformation syndrome - - - - - - - - 508498 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508498 - Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome - - Malformation syndrome - - - - - - - - 572761 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572761 - DONSON-related microcephaly-short stature-limb abnormalities spectrum - - Malformation syndrome - - - - - - 572768 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572768 - Microcephaly-micromelia syndrome - - Clinical subtype - - - - - - - - 572773 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572773 - Microcephaly-short stature-limb abnormalities syndrome - - Clinical subtype - - - - - - - - - - 592574 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=592574 - Menke-Hennekam syndrome - - Malformation syndrome - - - - - - - - 589442 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589442 - Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome - - Malformation syndrome - - - - - - - - 611216 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=611216 - Aplastic anemia-intellectual disability-dwarfism syndrome - - Disease - - - - - - - - 611207 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=611207 - Spondyloepiphyseal dysplasia-sensorineural hearing loss-intellectual disability-Leber congenital amaurosis syndrome - - Clinical syndrome - - - - - - - - 3191 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3191 - Subaortic stenosis-short stature syndrome - - Malformation syndrome - - - - - - - - 2109 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2109 - Hallermann-Streiff-like syndrome - - Malformation syndrome - - - - - - - - 2183 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2183 - Hydrocephalus-obesity-hypogonadism syndrome - - Malformation syndrome - - - - - - - - 580940 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=580940 - QRICH1-related intellectual disability-chondrodysplasia syndrome - - Malformation syndrome - - - - - - - - - - 183573 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183573 - Genetic overgrowth/obesity syndrome - - Category - - - - - - 77828 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77828 - Genetic obesity - - Category - - - - - - 98267 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98267 - Genetic non-syndromic obesity - - Disease - - - - - - 66628 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66628 - Obesity due to congenital leptin deficiency - - Etiological subtype - - - - - - - - 179490 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=179490 - Obesity due to congenital leptin resistance - - Etiological subtype - - - - - - 71526 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71526 - Obesity due to pro-opiomelanocortin deficiency - - Etiological subtype - - - - - - - - 71528 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71528 - Obesity due to prohormone convertase I deficiency - - Etiological subtype - - - - - - - - 71529 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71529 - Obesity due to melanocortin 4 receptor deficiency - - Etiological subtype - - - - - - - - 179494 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=179494 - Obesity due to leptin receptor gene deficiency - - Etiological subtype - - - - - - - - - - 329249 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329249 - Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency - - Etiological subtype - - - - - - - - 369873 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369873 - Obesity due to SIM1 deficiency - - Etiological subtype - - - - - - - - 397615 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397615 - Obesity due to CEP19 deficiency - - Etiological subtype - - - - - - - - - - 240371 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=240371 - Syndromic obesity - - Category - - - - - - 819 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=819 - Smith-Magenis syndrome - - Malformation syndrome - - - - - - - - 908 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=908 - Fragile X syndrome - - Malformation syndrome - - - - - - - - 739 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=739 - Prader-Willi syndrome - - Disease - - - - - - 98754 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98754 - Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 - - Etiological subtype - - - - - - - - 98793 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98793 - Prader-Willi syndrome due to paternal 15q11q13 deletion - - Etiological subtype - - - - - - 177901 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=177901 - Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 - - Etiological subtype - - - - - - - - 177904 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=177904 - Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 - - Etiological subtype - - - - - - - - - - 177907 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=177907 - Prader-Willi syndrome due to translocation - - Etiological subtype - - - - - - - - 177910 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=177910 - Prader-Willi syndrome due to imprinting mutation - - Etiological subtype - - - - - - - - - - 783 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=783 - Rubinstein-Taybi syndrome - - Malformation syndrome - - - - - - 353277 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353277 - Rubinstein-Taybi syndrome due to CREBBP mutations - - Etiological subtype - - - - - - - - 353281 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353281 - Rubinstein-Taybi syndrome due to 16p13.3 microdeletion - - Etiological subtype - - - - - - - - 353284 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353284 - Rubinstein-Taybi syndrome due to EP300 haploinsufficiency - - Etiological subtype - - - - - - - - - - 893 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=893 - WAGR syndrome - - Malformation syndrome - - - - - - - - 192 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=192 - Coffin-Lowry syndrome - - Malformation syndrome - - - - - - - - 193 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=193 - Cohen syndrome - - Malformation syndrome - - - - - - - - 276630 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276630 - Symptomatic form of Coffin-Lowry syndrome in female carriers - - Malformation syndrome - - - - - - - - 457059 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457059 - Pseudohypoparathyroidism with Albright hereditary osteodystrophy - - Clinical group - - - - - - 79443 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79443 - Pseudohypoparathyroidism type 1A - - Disease - - - - - - - - 79444 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79444 - Pseudohypoparathyroidism type 1C - - Disease - - - - - - - - 79445 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79445 - Pseudopseudohypoparathyroidism - - Disease - - - - - - - - - - 64 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64 - Alström syndrome - - Disease - - - - - - - - 127 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=127 - Borjeson-Forssman-Lehmann syndrome - - Malformation syndrome - - - - - - - - 1435 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1435 - Xq21 microdeletion syndrome - - Malformation syndrome - - - - - - - - 2563 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2563 - MOMO syndrome - - Malformation syndrome - - - - - - - - 3459 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3459 - Wilson-Turner syndrome - - Malformation syndrome - - - - - - - - 2183 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2183 - Hydrocephalus-obesity-hypogonadism syndrome - - Malformation syndrome - - - - - - - - 110 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=110 - Bardet-Biedl syndrome - - Disease - - - - - - - - 2637 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2637 - Microcephalic osteodysplastic primordial dwarfism type II - - Malformation syndrome - - - - - - - - 65759 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65759 - Carpenter syndrome - - Malformation syndrome - - - - - - - - 75858 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75858 - MORM syndrome - - Disease - - - - - - - - 85282 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85282 - MEHMO syndrome - - Malformation syndrome - - - - - - - - 261222 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261222 - Distal 16p11.2 microdeletion syndrome - - Malformation syndrome - - - - - - - - 293987 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293987 - Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome - - Disease - - - - - - - - 352530 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352530 - Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome - - Disease - - - - - - - - 363741 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363741 - Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome - - Disease - - - - - - - - 369950 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369950 - Intellectual disability-seizures-macrocephaly-obesity syndrome - - Disease - - - - - - - - 397973 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397973 - Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome - - Disease - - - - - - - - 398073 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398073 - Prader-Willi-like syndrome - - Clinical group - - - - - - 633028 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=633028 - CPE-related Prader-Willi-like syndrome - - Disease - - - - - - - - 171829 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171829 - 6q16 microdeletion syndrome - - Disease - - - - - - - - 398079 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398079 - SIM1-related Prader-Willi-like syndrome - - Disease - - - - - - - - 398069 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=398069 - Schaaf-Yang syndrome - - Disease - - - - - - - - - - 444077 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444077 - Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome - - Malformation syndrome - - - - - - - - 99704 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99704 - Early-onset obesity-hyperphagia-severe developmental delay syndrome - - Disease - - - - - - - - 254516 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254516 - Temple syndrome - - Malformation syndrome - - - - - - 96184 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96184 - Temple syndrome due to maternal uniparental disomy of chromosome 14 - - Etiological subtype - - - - - - - - 254525 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254525 - Temple syndrome due to paternal 14q32.2 microdeletion - - Etiological subtype - - - - - - - - 254531 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254531 - Temple syndrome due to paternal 14q32.2 hypomethylation - - Etiological subtype - - - - - - - - - - 521390 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521390 - Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome - - Malformation syndrome - - - - - - - - 589905 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589905 - PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome - - Disease - - - - - - - - 464288 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464288 - Short stature-brachydactyly-obesity-global developmental delay syndrome - - Malformation syndrome - - - - - - - - 652487 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=652487 - Developmental delay-overweight-facial dysmorphism-behavioral abnormalities syndrome - - Malformation syndrome - - - - - - - - 620363 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=620363 - Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome - - Disease - - - - - - - - 600731 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=600731 - Clark-Baraitser syndrome - - Malformation syndrome - - - - - - - - 647799 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=647799 - MYT1L-related developmental delay-intellectual disability-obesity syndrome - - Disease - - - - - - - - - - - - 93460 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93460 - Overgrowth syndrome - - Category - - - - - - 3205 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3205 - Sturge-Weber syndrome - - Malformation syndrome - - - - - - - - 116 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=116 - Beckwith-Wiedemann syndrome - - Malformation syndrome - - - - - - 96076 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96076 - Beckwith-Wiedemann syndrome due to 11p15 microduplication - - Etiological subtype - - - - - - - - 96193 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96193 - Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11 - - Etiological subtype - - - - - - - - 231117 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231117 - Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 - - Etiological subtype - - - - - - - - 231120 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231120 - Beckwith-Wiedemann syndrome due to CDKN1C mutation - - Etiological subtype - - - - - - - - 231127 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231127 - Beckwith-Wiedemann syndrome due to 11p15 microdeletion - - Etiological subtype - - - - - - - - 231130 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231130 - Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion - - Etiological subtype - - - - - - - - 238613 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238613 - Beckwith-Wiedemann syndrome due to NSD1 mutation - - Etiological subtype - - - - - - - - - - 2346 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2346 - Angioosteohypertrophic syndrome - - Clinical group - - - - - - 90308 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90308 - Capillary-lymphatic-venous malformation with segmental distribution - - Disease - - - - - - - - 90307 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90307 - Parkes Weber syndrome - - Disease - - - - - - - - - - 744 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=744 - Proteus syndrome - - Malformation syndrome - - - - - - - - 821 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=821 - Sotos syndrome - - Disease - - - - - - - - 373 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=373 - Simpson-Golabi-Behmel syndrome - - Malformation syndrome - - - - - - - - 109 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=109 - Bannayan-Riley-Ruvalcaba syndrome - - Clinical subtype - - - - - - - - 2128 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2128 - Isolated hemihyperplasia - - Morphological anomaly - - - - - - - - 296 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=296 - Ollier disease - - Disease - - - - - - - - 561 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=561 - Marshall-Smith syndrome - - Malformation syndrome - - - - - - - - 2849 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2849 - Perlman syndrome - - Malformation syndrome - - - - - - - - 33445 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33445 - Neuroectodermal melanolysosomal disease - - Malformation syndrome - - - - - - - - 137634 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137634 - Overgrowth-macrocephaly-facial dysmorphism syndrome - - Malformation syndrome - - - - - - - - 163634 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163634 - Maffucci syndrome - - Disease - - - - - - - - 93461 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93461 - Chromosomal disease with overgrowth - - Category - - - - - - 884 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=884 - Pallister-Killian syndrome - - Malformation syndrome - - - - - - - - 1742 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1742 - Trisomy 5p syndrome - - Malformation syndrome - - - - - - - - 96072 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96072 - 4p16.3 microduplication syndrome - - Malformation syndrome - - - - - - - - 314585 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314585 - 15q overgrowth syndrome - - Malformation syndrome - - - - - - 1707 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1707 - Distal duplication 15q syndrome - - Etiological subtype - - - - - - - - 314588 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314588 - Distal triplication 15q syndrome - - Etiological subtype - - - - - - - - - - - - 404443 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404443 - Tatton-Brown-Rahman syndrome - - Malformation syndrome - - - - - - - - 293964 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293964 - Hypoinsulinemic hypoglycemia and body hemihypertrophy - - Disease - - - - - - - - 300305 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300305 - 11p15.4 microduplication syndrome - - Malformation syndrome - - - - - - - - 404476 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404476 - Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome - - Malformation syndrome - - - - - - - - 420179 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420179 - Malan overgrowth syndrome - - Malformation syndrome - - - - - - - - 457359 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457359 - Megalencephaly-severe kyphoscoliosis-overgrowth syndrome - - Malformation syndrome - - - - - - - - 597738 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=597738 - Luscan-Lumish syndrome - - Malformation syndrome - - - - - - - - 530313 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=530313 - PIK3CA-related overgrowth syndrome - - Clinical group - - - - - - 60040 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=60040 - Megalencephaly-capillary malformation-polymicrogyria syndrome - - Malformation syndrome - - - - - - - - 276280 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276280 - Hemihyperplasia-multiple lipomatosis syndrome - - Malformation syndrome - - - - - - - - 314662 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314662 - Segmental progressive overgrowth syndrome with fibroadipose hyperplasia - - Disease - - - - - - - - 140944 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140944 - CLOVES syndrome - - Malformation syndrome - - - - - - - - 99802 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99802 - Hemimegalencephaly - - Malformation syndrome - - - - - - - - 295239 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295239 - Macrodactyly of fingers, unilateral - - Clinical subtype - - - - - - - - 295243 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295243 - Macrodactyly of toes, unilateral - - Clinical subtype - - - - - - - - 583097 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=583097 - Congenital infiltrating lipomatosis of the face - - Disease - - - - - - - - 168984 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168984 - CLAPO syndrome - - Malformation syndrome - - - - - - - - - - 642675 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642675 - CHD8 overgrowth syndrome - - Disease - - - - - - - - 659387 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=659387 - PRC-2 complex-related overgrowth spectrum - - Clinical group - - - - - - 3447 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3447 - Weaver syndrome - - Malformation syndrome - - - - - - - - 659396 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=659396 - Cohen-Gibson syndrome - - Malformation syndrome - - - - - - - - 659463 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=659463 - Imagawa-Matsumoto syndrome - - Malformation syndrome - - - - - - - - - - - - - - 183576 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183576 - Genetic branchial arch or oral-acral syndrome - - Category - - - - - - 141132 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141132 - Oculo-auriculo-vertebral spectrum - - Malformation syndrome - - - - - - - - 107 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=107 - BOR syndrome - - Malformation syndrome - - - - - - - - 861 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=861 - Treacher-Collins syndrome - - Malformation syndrome - - - - - - - - 245 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=245 - Nager syndrome - - Malformation syndrome - - - - - - - - 1406 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1406 - Charlie M syndrome - - Malformation syndrome - - - - - - - - 246 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=246 - Postaxial acrofacial dysostosis - - Malformation syndrome - - - - - - - - 570 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=570 - Moebius syndrome - - Disease - - - - - - - - 952 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=952 - Acrofacial dysostosis, Weyers type - - Malformation syndrome - - - - - - - - 989 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=989 - Hypoglossia-hypodactyly syndrome - - Malformation syndrome - - - - - - - - 1131 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1131 - X-linked mandibulofacial dysostosis - - Malformation syndrome - - - - - - - - 1296 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1296 - Lambert syndrome - - Malformation syndrome - - - - - - - - 1786 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1786 - Acrofacial dysostosis, Catania type - - Malformation syndrome - - - - - - - - 1788 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1788 - Acrofacial dysostosis, Rodríguez type - - Malformation syndrome - - - - - - - - 1791 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1791 - Frontofacionasal dysplasia - - Malformation syndrome - - - - - - - - 2063 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2063 - Splenogonadal fusion-limb defects-micrognathia syndrome - - Malformation syndrome - - - - - - - - 2213 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2213 - Hypertelorism-microtia-facial clefting syndrome - - Malformation syndrome - - - - - - - - 2439 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2439 - Patterson-Stevenson-Fontaine syndrome - - Malformation syndrome - - - - - - - - 2549 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2549 - Oculoauriculovertebral spectrum with radial defects - - Malformation syndrome - - - - - - - - 2554 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2554 - Ear-patella-short stature syndrome - - Malformation syndrome - - - - - - - - 2792 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2792 - Otofaciocervical syndrome - - Malformation syndrome - - - - - - - - 3456 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3456 - Wildervanck syndrome - - Malformation syndrome - - - - - - - - 90650 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90650 - Otopalatodigital syndrome type 1 - - Malformation syndrome - - - - - - - - 1787 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1787 - Acrofacial dysostosis, Palagonia type - - Malformation syndrome - - - - - - - - 64542 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64542 - Acrofacial dysostosis, Kennedy-Teebi type - - Malformation syndrome - - - - - - - - 79113 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79113 - Mandibulofacial dysostosis-microcephaly syndrome - - Malformation syndrome - - - - - - - - 137888 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137888 - Auriculocondylar syndrome - - Malformation syndrome - - - - - - - - 140997 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140997 - Orofaciodigital syndrome - - Clinical group - - - - - - 2750 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2750 - Orofaciodigital syndrome type 1 - - Malformation syndrome - - - - - - - - 2751 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2751 - Orofaciodigital syndrome type 2 - - Malformation syndrome - - - - - - - - 2753 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2753 - Orofaciodigital syndrome type 4 - - Malformation syndrome - - - - - - - - 2754 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2754 - Orofaciodigital syndrome type 6 - - Malformation syndrome - - - - - - - - 2755 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2755 - Orofaciodigital syndrome type 8 - - Malformation syndrome - - - - - - - - 2919 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2919 - Orofaciodigital syndrome type 5 - - Malformation syndrome - - - - - - - - 141000 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141000 - Orofaciodigital syndrome type 11 - - Malformation syndrome - - - - - - - - 141007 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141007 - Orofaciodigital syndrome type 9 - - Malformation syndrome - - - - - - - - 434179 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=434179 - Orofaciodigital syndrome type 14 - - Malformation syndrome - - - - - - - - 508501 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508501 - Oral-facial-digital syndrome with short stature and brachymesophalangy - - Malformation syndrome - - - - - - - - - - 231742 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231742 - Epibulbar lipodermoid-preauricular appendage-polythelia syndrome - - Malformation syndrome - - - - - - - - 306542 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306542 - Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome - - Malformation syndrome - - - - - - - - 357158 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357158 - Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome - - Disease - - - - - - - - 90652 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90652 - Otopalatodigital syndrome type 2 - - Malformation syndrome - - - - - - - - - - 183580 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183580 - Genetic malformation syndrome with odontal and/or periodontal component - - Category - - - - - - 2720 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2720 - Oculocerebral hypopigmentation syndrome, Preus type - - Malformation syndrome - - - - - - - - 627 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=627 - Nance-Horan syndrome - - Malformation syndrome - - - - - - - - 1946 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1946 - Amelocerebrohypohidrotic syndrome - - Malformation syndrome - - - - - - - - 978 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=978 - ADULT syndrome - - Malformation syndrome - - - - - - - - 1031 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1031 - Enamel-renal syndrome - - Malformation syndrome - - - - - - - - 3196 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3196 - Steroid dehydrogenase deficiency-dental anomalies syndrome - - Disease - - - - - - - - 1660 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1660 - Dermoodontodysplasia - - Malformation syndrome - - - - - - - - 1873 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1873 - Jalili syndrome - - Malformation syndrome - - - - - - - - 1818 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1818 - Ectodermal dysplasia, trichoodontoonychial type - - Malformation syndrome - - - - - - - - 1997 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1997 - Blepharo-cheilo-odontic syndrome - - Malformation syndrome - - - - - - - - 2010 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2010 - Cleft palate-stapes fixation-oligodontia syndrome - - Malformation syndrome - - - - - - - - 2024 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2024 - Hereditary gingival fibromatosis - - Malformation syndrome - - - - - - - - 2025 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2025 - Gingival fibromatosis-facial dysmorphism syndrome - - Malformation syndrome - - - - - - - - 2026 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2026 - Gingival fibromatosis-hypertrichosis syndrome - - Malformation syndrome - - - - - - - - 2027 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2027 - Gingival fibromatosis-progressive deafness syndrome - - Malformation syndrome - - - - - - - - 2028 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2028 - Juvenile hyaline fibromatosis - - Clinical subtype - - - - - - - - 2067 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2067 - GAPO syndrome - - Malformation syndrome - - - - - - - - 2228 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2228 - Hypodontia-dysplasia of nails syndrome - - Malformation syndrome - - - - - - - - 2332 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2332 - KBG syndrome - - Malformation syndrome - - - - - - - - 2342 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2342 - Haim-Munk syndrome - - Disease - - - - - - - - 2363 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2363 - Lacrimoauriculodentodigital syndrome - - Malformation syndrome - - - - - - - - 2561 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2561 - Pyramidal molars-abnormal upper lip syndrome - - Malformation syndrome - - - - - - - - 2709 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2709 - Oculodental syndrome, Rutherfurd type - - Malformation syndrome - - - - - - - - 2710 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2710 - Oculodentodigital dysplasia - - Malformation syndrome - - - - - - - - 2712 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2712 - Oculofaciocardiodental syndrome - - Malformation syndrome - - - - - - - - 2719 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2719 - Oculocerebral hypopigmentation syndrome, Cross type - - Malformation syndrome - - - - - - - - 2721 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2721 - Odonto-onycho-dermal dysplasia - - Disease - - - - - - - - 2722 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2722 - Odonto-onycho dysplasia-alopecia syndrome - - Malformation syndrome - - - - - - - - 2723 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2723 - Odontotrichomelic syndrome - - Malformation syndrome - - - - - - - - 2724 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2724 - Odontomatosis-aortae esophagus stenosis syndrome - - Malformation syndrome - - - - - - - - 2791 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2791 - Otodental syndrome - - Malformation syndrome - - - - - - - - 678 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=678 - Papillon-Lefèvre syndrome - - Disease - - - - - - - - 2892 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2892 - Pilodental dysplasia-refractive errors syndrome - - Malformation syndrome - - - - - - - - 2899 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2899 - Brachyolmia-amelogenesis imperfecta syndrome - - Malformation syndrome - - - - - - - - 2916 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2916 - Postaxial polydactyly-dental and vertebral anomalies syndrome - - Malformation syndrome - - - - - - - - 2972 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2972 - Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome - - Malformation syndrome - - - - - - - - 3019 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3019 - Ramon syndrome - - Malformation syndrome - - - - - - - - 3184 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3184 - Steatocystoma multiplex-natal teeth syndrome - - Malformation syndrome - - - - - - - - 3220 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3220 - Deafness-enamel hypoplasia-nail defects syndrome - - Malformation syndrome - - - - - - - - 3230 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3230 - Deafness-oligodontia syndrome - - Malformation syndrome - - - - - - - - 3351 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3351 - Trichodental syndrome - - Malformation syndrome - - - - - - - - 3352 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3352 - Tricho-dento-osseous syndrome - - Malformation syndrome - - - - - - - - 3353 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3353 - Trichodermodysplasia-dental alterations syndrome - - Malformation syndrome - - - - - - - - 3355 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3355 - Trichoodontoonychial dysplasia - - Malformation syndrome - - - - - - - - 3473 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3473 - Zimmermann-Laband syndrome - - Malformation syndrome - - - - - - - - 50944 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50944 - Schöpf-Schulz-Passarge syndrome - - Disease - - - - - - - - 69082 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69082 - Odonto-tricho-ungual-digito-palmar syndrome - - Malformation syndrome - - - - - - - - 69083 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69083 - Ectodermal dysplasia with natal teeth, Turnpenny type - - Malformation syndrome - - - - - - - - 71267 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71267 - Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome - - Malformation syndrome - - - - - - - - 79129 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79129 - Trichodysplasia-amelogenesis imperfecta syndrome - - Malformation syndrome - - - - - - - - 99806 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99806 - Oculootodental syndrome - - Malformation syndrome - - - - - - - - 166272 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166272 - Odontochondrodysplasia - - Malformation syndrome - - - - - - - - 166277 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166277 - Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia - - Malformation syndrome - - - - - - - - 284149 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284149 - Craniosynostosis-dental anomalies - - Malformation syndrome - - - - - - - - 477993 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477993 - Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome - - Malformation syndrome - - - - - - - - 664438 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=664438 - Gingival fibromatosis-aortic root dilatation-facial dysmorphism-intellectual disability syndrome - - Malformation syndrome - - - - - - - - 598603 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=598603 - Facial dysmorphism-hypertrichosis-epilepsy-intellectual disability/developmental delay-gingival overgrowth syndrome - - Malformation syndrome - - - - - - - - 684232 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=684232 - Intellectual disability-épilepsy-dental anomalies-facial dysmorphism syndrome - - Malformation syndrome - - - - - - - - - - 183583 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=183583 - Genetic head and neck malformation - - Category - - - - - - 155896 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=155896 - Otomandibular dysplasia - - Category - - - - - - 137888 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137888 - Auriculocondylar syndrome - - Malformation syndrome - - - - - - - - 141132 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141132 - Oculo-auriculo-vertebral spectrum - - Malformation syndrome - - - - - - - - 155899 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=155899 - Mandibulofacial dysostosis - - Clinical group - - - - - - 861 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=861 - Treacher-Collins syndrome - - Malformation syndrome - - - - - - - - 950 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=950 - Acrodysostosis - - Malformation syndrome - - - - - - - - 357158 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357158 - Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome - - Disease - - - - - - - - 443995 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443995 - Mandibulofacial dysostosis with alopecia - - Malformation syndrome - - - - - - - - - - 156202 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156202 - Otomandibular dysplasia associated with monogenic syndromes - - Category - - - - - - 107 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=107 - BOR syndrome - - Malformation syndrome - - - - - - - - 1296 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1296 - Lambert syndrome - - Malformation syndrome - - - - - - - - - - - - 156207 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156207 - Macroglossia - - Category - - - - - - 116 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=116 - Beckwith-Wiedemann syndrome - - Malformation syndrome - - - - - - 96076 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96076 - Beckwith-Wiedemann syndrome due to 11p15 microduplication - - Etiological subtype - - - - - - - - 96193 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96193 - Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11 - - Etiological subtype - - - - - - - - 231117 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231117 - Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 - - Etiological subtype - - - - - - - - 231120 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231120 - Beckwith-Wiedemann syndrome due to CDKN1C mutation - - Etiological subtype - - - - - - - - 231127 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231127 - Beckwith-Wiedemann syndrome due to 11p15 microdeletion - - Etiological subtype - - - - - - - - 231130 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231130 - Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion - - Etiological subtype - - - - - - - - 238613 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238613 - Beckwith-Wiedemann syndrome due to NSD1 mutation - - Etiological subtype - - - - - - - - - - 2430 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2430 - Congenital macroglossia - - Malformation syndrome - - - - - - - - 373 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=373 - Simpson-Golabi-Behmel syndrome - - Malformation syndrome - - - - - - - - 2128 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2128 - Isolated hemihyperplasia - - Morphological anomaly - - - - - - - - 141145 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141145 - Hemifacial hyperplasia - - Malformation syndrome - - - - - - - - 141148 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141148 - Hemifacial myohyperplasia - - Malformation syndrome - - - - - - - - - - 156212 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156212 - Hypoglossia/aglossia - - Category - - - - - - 141152 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141152 - Isolated congenital hypoglossia/aglossia - - Morphological anomaly - - - - - - 563954 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=563954 - Isolated congenital hypoglossia - - Clinical subtype - - - - - - - - 563951 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=563951 - Isolated congenital aglossia - - Clinical subtype - - - - - - - - - - 156215 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156215 - Oromandibular-limb anomalies syndrome - - Category - - - - - - 2749 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2749 - Oromandibular-limb hypogenesis syndrome - - Clinical group - - - - - - 1406 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1406 - Charlie M syndrome - - Malformation syndrome - - - - - - - - 989 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=989 - Hypoglossia-hypodactyly syndrome - - Malformation syndrome - - - - - - - - 141163 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141163 - Glossopalatine ankylosis - - Malformation syndrome - - - - - - - - - - 140997 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140997 - Orofaciodigital syndrome - - Clinical group - - - - - - 2750 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2750 - Orofaciodigital syndrome type 1 - - Malformation syndrome - - - - - - - - 2751 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2751 - Orofaciodigital syndrome type 2 - - Malformation syndrome - - - - - - - - 2753 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2753 - Orofaciodigital syndrome type 4 - - Malformation syndrome - - - - - - - - 2754 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2754 - Orofaciodigital syndrome type 6 - - Malformation syndrome - - - - - - - - 2755 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2755 - Orofaciodigital syndrome type 8 - - Malformation syndrome - - - - - - - - 2919 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2919 - Orofaciodigital syndrome type 5 - - Malformation syndrome - - - - - - - - 141000 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141000 - Orofaciodigital syndrome type 11 - - Malformation syndrome - - - - - - - - 141007 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141007 - Orofaciodigital syndrome type 9 - - Malformation syndrome - - - - - - - - 434179 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=434179 - Orofaciodigital syndrome type 14 - - Malformation syndrome - - - - - - - - 508501 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508501 - Oral-facial-digital syndrome with short stature and brachymesophalangy - - Malformation syndrome - - - - - - - - - - - - - - 156224 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156224 - Paralytic facial malformation - - Category - - - - - - 570 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=570 - Moebius syndrome - - Disease - - - - - - - - 306527 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306527 - Isolated hereditary congenital facial paralysis - - Morphological anomaly - - - - - - - - 306530 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306530 - Congenital hereditary facial paralysis-variable hearing loss syndrome - - Morphological anomaly - - - - - - - - - - 156237 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156237 - Syndrome or malformation associated with head and neck malformations - - Category - - - - - - 138 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=138 - CHARGE syndrome - - Malformation syndrome - - - - - - - - 107 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=107 - BOR syndrome - - Malformation syndrome - - - - - - - - 116 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=116 - Beckwith-Wiedemann syndrome - - Malformation syndrome - - - - - - 96076 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96076 - Beckwith-Wiedemann syndrome due to 11p15 microduplication - - Etiological subtype - - - - - - - - 96193 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96193 - Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11 - - Etiological subtype - - - - - - - - 231117 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231117 - Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 - - Etiological subtype - - - - - - - - 231120 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231120 - Beckwith-Wiedemann syndrome due to CDKN1C mutation - - Etiological subtype - - - - - - - - 231127 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231127 - Beckwith-Wiedemann syndrome due to 11p15 microdeletion - - Etiological subtype - - - - - - - - 231130 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231130 - Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion - - Etiological subtype - - - - - - - - 238613 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238613 - Beckwith-Wiedemann syndrome due to NSD1 mutation - - Etiological subtype - - - - - - - - - - 1600 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1600 - Monosomy 18q syndrome - - Malformation syndrome - - - - - - - - 246 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=246 - Postaxial acrofacial dysostosis - - Malformation syndrome - - - - - - - - 718 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=718 - Isolated Pierre Robin sequence - - Malformation syndrome - - - - - - - - 744 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=744 - Proteus syndrome - - Malformation syndrome - - - - - - - - 3205 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3205 - Sturge-Weber syndrome - - Malformation syndrome - - - - - - - - 373 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=373 - Simpson-Golabi-Behmel syndrome - - Malformation syndrome - - - - - - - - 888 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=888 - Van der Woude syndrome - - Malformation syndrome - - - - - - - - 1071 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1071 - Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome - - Malformation syndrome - - - - - - 1072 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1072 - Ankyloblepharon filiforme adnatum-cleft palate syndrome - - Clinical subtype - - - - - - - - 1074 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1074 - Ankyloblepharon filiforme adnatum-imperforate anus syndrome - - Clinical subtype - - - - - - - - - - 1150 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1150 - Arthrogryposis multiplex congenita-whistling face syndrome - - Malformation syndrome - - - - - - - - 1248 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1248 - Maxillonasal dysplasia - - Malformation syndrome - - - - - - - - 1401 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1401 - CHAND syndrome - - Malformation syndrome - - - - - - - - 1896 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1896 - EEC syndrome - - Malformation syndrome - - - - - - - - 2215 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2215 - Multiple pterygium-malignant hyperthermia syndrome - - Malformation syndrome - - - - - - - - 2461 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2461 - Marden-Walker syndrome - - Malformation syndrome - - - - - - - - 2952 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2952 - Adducted thumbs-arthrogryposis syndrome, Christian type - - Malformation syndrome - - - - - - - - 2460 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2460 - Van den Ende-Gupta syndrome - - Malformation syndrome - - - - - - - - 90650 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90650 - Otopalatodigital syndrome type 1 - - Malformation syndrome - - - - - - - - 91397 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91397 - Isolated ankyloblepharon filiforme adnatum - - Morphological anomaly - - - - - - - - 139039 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139039 - Orofacial clefting syndrome - - Category - - - - - - 564 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=564 - Meckel syndrome - - Malformation syndrome - - - - - - - - 124 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=124 - Diamond-Blackfan anemia - - Disease - - - - - - - - 3103 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3103 - Roberts syndrome - - Malformation syndrome - - - - - - - - 1473 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1473 - Uveal coloboma-cleft lip and palate-intellectual disability - - Malformation syndrome - - - - - - - - 1358 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1358 - Carey-Fineman-Ziter syndrome - - Malformation syndrome - - - - - - - - 916 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=916 - Aase-Smith syndrome - - Malformation syndrome - - - - - - - - 920 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=920 - Ablepharon macrostomia syndrome - - Malformation syndrome - - - - - - - - 921 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=921 - Abruzzo-Erickson syndrome - - Malformation syndrome - - - - - - - - 1226 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1226 - Bamforth-Lazarus syndrome - - Malformation syndrome - - - - - - - - 1241 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1241 - Bencze syndrome - - Malformation syndrome - - - - - - - - 1297 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1297 - Branchio-oculo-facial syndrome - - Malformation syndrome - - - - - - - - 1388 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1388 - Catel-Manzke syndrome - - Malformation syndrome - - - - - - - - 1484 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1484 - Contractures-ectodermal dysplasia-cleft lip/palate syndrome - - Malformation syndrome - - - - - - - - 1512 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1512 - Crane-Heise syndrome - - Malformation syndrome - - - - - - - - 1988 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1988 - Femoral-facial syndrome - - Malformation syndrome - - - - - - - - 1993 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1993 - Pai syndrome - - Malformation syndrome - - - - - - - - 1995 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1995 - Cleft lip-retinopathy syndrome - - Malformation syndrome - - - - - - - - 1997 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1997 - Blepharo-cheilo-odontic syndrome - - Malformation syndrome - - - - - - - - 2001 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2001 - Cleft lip/palate-intestinal malrotation-cardiopathy syndrome - - Malformation syndrome - - - - - - - - 2003 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2003 - Cleft lip/palate-deafness-sacral lipoma syndrome - - Malformation syndrome - - - - - - - - 2008 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2008 - Acrocardiofacial syndrome - - Malformation syndrome - - - - - - - - 2013 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2013 - Cleft palate-large ears-small head syndrome - - Malformation syndrome - - - - - - - - 2016 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2016 - Cleft palate-lateral synechia syndrome - - Malformation syndrome - - - - - - - - 2075 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2075 - Genitopalatocardiac syndrome - - Malformation syndrome - - - - - - - - 376 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=376 - Gordon syndrome - - Malformation syndrome - - - - - - - - 2117 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2117 - Hartsfield syndrome - - Malformation syndrome - - - - - - - - 2167 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2167 - Holzgreve syndrome - - Malformation syndrome - - - - - - - - 2189 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2189 - Hydrolethalus - - Malformation syndrome - - - - - - - - 2213 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2213 - Hypertelorism-microtia-facial clefting syndrome - - Malformation syndrome - - - - - - - - 2319 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2319 - Juberg-Hayward syndrome - - Malformation syndrome - - - - - - - - 2328 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2328 - Kapur-Toriello syndrome - - Malformation syndrome - - - - - - - - 2432 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2432 - Macrosomia-microphthalmia-cleft palate syndrome - - Malformation syndrome - - - - - - - - 2476 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2476 - Dysraphism-cleft lip/palate-limb reduction defects syndrome - - Malformation syndrome - - - - - - - - 2511 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2511 - Microbrachycephaly-ptosis-cleft lip syndrome - - Malformation syndrome - - - - - - - - 2521 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2521 - Microcephaly-cleft palate-abnormal retinal pigmentation syndrome - - Malformation syndrome - - - - - - - - 2631 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2631 - Mesomelic dwarfism-cleft palate-camptodactyly syndrome - - Malformation syndrome - - - - - - - - 2714 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2714 - Oculo-palato-cerebral syndrome - - Malformation syndrome - - - - - - - - 2723 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2723 - Odontotrichomelic syndrome - - Malformation syndrome - - - - - - - - 2736 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2736 - Lethal omphalocele-cleft palate syndrome - - Malformation syndrome - - - - - - - - 2804 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2804 - W syndrome - - Malformation syndrome - - - - - - - - 2825 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2825 - PARC syndrome - - Malformation syndrome - - - - - - - - 2854 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2854 - Fuhrmann syndrome - - Malformation syndrome - - - - - - - - 2888 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2888 - Pierre Robin syndrome-faciodigital anomaly syndrome - - Malformation syndrome - - - - - - - - 1415 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1415 - Hardikar syndrome - - Malformation syndrome - - - - - - - - 3021 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3021 - RAPADILINO syndrome - - Malformation syndrome - - - - - - - - 3102 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3102 - Richieri Costa-Pereira syndrome - - Malformation syndrome - - - - - - - - 3104 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3104 - Robin sequence-oligodactyly syndrome - - Malformation syndrome - - - - - - - - 3201 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3201 - Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome - - Malformation syndrome - - - - - - - - 3253 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3253 - Cleft lip/palate-ectodermal dysplasia syndrome - - Malformation syndrome - - - - - - - - 3316 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3316 - Thomas syndrome - - Malformation syndrome - - - - - - - - 3329 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3329 - Tibial aplasia-ectrodactyly syndrome - - Malformation syndrome - - - - - - - - 3338 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3338 - Toriello-Carey syndrome - - Malformation syndrome - - - - - - - - 3424 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3424 - Velo-facial-skeletal syndrome - - Malformation syndrome - - - - - - - - 3429 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3429 - Verloove Vanhorick-Brubakk syndrome - - Malformation syndrome - - - - - - - - 3448 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3448 - Weaver-Williams syndrome - - Malformation syndrome - - - - - - - - 477993 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477993 - Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome - - Malformation syndrome - - - - - - - - 2015 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2015 - Cleft palate-short stature-vertebral anomalies syndrome - - Malformation syndrome - - - - - - - - 1779 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1779 - Dysmorphism-cleft palate-loose skin syndrome - - Malformation syndrome - - - - - - - - 3263 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3263 - Syngnathia-cleft palate syndrome - - Malformation syndrome - - - - - - - - 503 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=503 - Larsen syndrome - - Malformation syndrome - - - - - - - - 66629 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66629 - Goldberg-Shprintzen megacolon syndrome - - Malformation syndrome - - - - - - - - 77300 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77300 - Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome - - Malformation syndrome - - - - - - - - 79113 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79113 - Mandibulofacial dysostosis-microcephaly syndrome - - Malformation syndrome - - - - - - - - 91494 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91494 - Macular coloboma-cleft palate-hallux valgus syndrome - - Malformation syndrome - - - - - - - - 140963 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140963 - Bilateral microtia-deafness-cleft palate syndrome - - Malformation syndrome - - - - - - - - 163649 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163649 - Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome - - Disease - - - - - - - - 166100 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166100 - Autosomal dominant otospondylomegaepiphyseal dysplasia - - Malformation syndrome - - - - - - - - 168572 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168572 - Native American myopathy - - Malformation syndrome - - - - - - - - 306542 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306542 - Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome - - Malformation syndrome - - - - - - - - 324601 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324601 - X-linked cleft palate and ankyloglossia - - Malformation syndrome - - - - - - - - 660021 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=660021 - Orofacial clefting-cardiac anomalies-facial dysmorphism syndrome - - Malformation syndrome - - - - - - - - 508476 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508476 - Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome - - Malformation syndrome - - - - - - - - 1794 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1794 - Oculomaxillofacial dysostosis - - Malformation syndrome - - - - - - - - - - 140997 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140997 - Orofaciodigital syndrome - - Clinical group - - - - - - 2750 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2750 - Orofaciodigital syndrome type 1 - - Malformation syndrome - - - - - - - - 2751 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2751 - Orofaciodigital syndrome type 2 - - Malformation syndrome - - - - - - - - 2753 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2753 - Orofaciodigital syndrome type 4 - - Malformation syndrome - - - - - - - - 2754 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2754 - Orofaciodigital syndrome type 6 - - Malformation syndrome - - - - - - - - 2755 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2755 - Orofaciodigital syndrome type 8 - - Malformation syndrome - - - - - - - - 2919 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2919 - Orofaciodigital syndrome type 5 - - Malformation syndrome - - - - - - - - 141000 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141000 - Orofaciodigital syndrome type 11 - - Malformation syndrome - - - - - - - - 141007 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141007 - Orofaciodigital syndrome type 9 - - Malformation syndrome - - - - - - - - 434179 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=434179 - Orofaciodigital syndrome type 14 - - Malformation syndrome - - - - - - - - 508501 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508501 - Oral-facial-digital syndrome with short stature and brachymesophalangy - - Malformation syndrome - - - - - - - - - - 294963 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294963 - Popliteal pterygium syndrome - - Clinical group - - - - - - 1234 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1234 - Bartsocas-Papas syndrome - - Malformation syndrome - - - - - - - - 1300 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1300 - Autosomal dominant popliteal pterygium syndrome - - Malformation syndrome - - - - - - - - - - 363294 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363294 - Genetic syndromic Pierre Robin syndrome - - Category - - - - - - 364577 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=364577 - Intellectual disability-brachydactyly-Pierre Robin syndrome - - Malformation syndrome - - - - - - - - 2886 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2886 - TARP syndrome - - Malformation syndrome - - - - - - - - 138041 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=138041 - Pierre Robin syndrome associated with collagen disease - - Category - - - - - - 828 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=828 - Stickler syndrome - - Disease - - - - - - 90653 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90653 - Stickler syndrome type 1 - - Clinical subtype - - - - - - - - 90654 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90654 - Stickler syndrome type 2 - - Clinical subtype - - - - - - - - 250984 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=250984 - Autosomal recessive Stickler syndrome - - Clinical subtype - - - - - - - - - - 485 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=485 - Kniest dysplasia - - Disease - - - - - - - - 166100 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166100 - Autosomal dominant otospondylomegaepiphyseal dysplasia - - Malformation syndrome - - - - - - - - - - 138047 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=138047 - Pierre Robin syndrome associated with a chromosomal anomaly - - Category - - - - - - 567 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=567 - 22q11.2 deletion syndrome - - Malformation syndrome - - - - - - - - 436003 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436003 - Contractures-developmental delay-Pierre Robin syndrome - - Malformation syndrome - - - - - - - - 261323 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261323 - 21q22.11q22.12 microdeletion syndrome - - Malformation syndrome - - - - - - - - - - 138050 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=138050 - Pierre Robin syndrome associated with branchial archs anomalies - - Category - - - - - - 861 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=861 - Treacher-Collins syndrome - - Malformation syndrome - - - - - - - - 245 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=245 - Nager syndrome - - Malformation syndrome - - - - - - - - - - 138055 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=138055 - Pierre Robin syndrome associated with bone disease - - Category - - - - - - 87 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=87 - Apert syndrome - - Malformation syndrome - - - - - - - - 1190 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1190 - Atelosteogenesis type I - - Malformation syndrome - - - - - - - - 56304 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=56304 - Atelosteogenesis type II - - Malformation syndrome - - - - - - - - 56305 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=56305 - Atelosteogenesis type III - - Malformation syndrome - - - - - - - - 199 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199 - Cornelia de Lange syndrome - - Malformation syndrome - - - - - - - - - - - - 90652 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90652 - Otopalatodigital syndrome type 2 - - Malformation syndrome - - - - - - - - 694956 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=694956 - Intellectual disability-lymphoid hypertrophy-macrocephaly syndrome - - Malformation syndrome - - - - - - - - 576278 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=576278 - SATB2-associated syndrome - - Malformation syndrome - - - - - - 251028 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251028 - SATB2-associated syndrome due to a chromosomal rearrangement - - Etiological subtype - - - - - - - - 576283 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=576283 - SATB2-associated syndrome due to a pathogenic variant - - Etiological subtype - - - - - - - - - - - - 414726 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=414726 - Genetic facial cleft - - Category - - - - - - 141258 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141258 - Tessier number 4 facial cleft - - Morphological anomaly - - - - - - - - 141269 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141269 - Lateral facial cleft - - Clinical group - - - - - - 141276 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141276 - Tessier number 7 facial cleft - - Morphological anomaly - - - - - - - - - - 391474 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391474 - Frontorhiny - - Malformation syndrome - - - - - - - - 401942 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401942 - Familial median cleft of the upper and lower lips - - Malformation syndrome - - - - - - - - - - 435603 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435603 - Genetic otorhinolaryngological malformation - - Category - - - - - - 156243 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156243 - Pinnae and external auditory canal anomaly - - Category - - - - - - 83463 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83463 - Microtia - - Morphological anomaly - - - - - - - - 93976 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93976 - Anotia - - Morphological anomaly - - - - - - - - 141074 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141074 - External auditory canal aplasia/hypoplasia - - Morphological anomaly - - - - - - - - 3023 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3023 - External auditory canal atresia-vertical talus-hypertelorism syndrome - - Malformation syndrome - - - - - - - - 397623 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397623 - Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome - - Malformation syndrome - - - - - - - - 500188 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500188 - X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome - - Malformation syndrome - - - - - - - - - - 435606 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435606 - Genetic nose and cavum anomaly - - Category - - - - - - 2250 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2250 - Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome - - Disease - - - - - - - - 1200 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1200 - Burn-McKeown syndrome - - Malformation syndrome - - - - - - - - 1252 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1252 - Blepharonasofacial malformation syndrome - - Malformation syndrome - - - - - - - - 2363 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2363 - Lacrimoauriculodentodigital syndrome - - Malformation syndrome - - - - - - - - 2695 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2695 - Bifid nose - - Malformation syndrome - - - - - - - - 3026 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3026 - Radial ray hypoplasia-choanal atresia syndrome - - Malformation syndrome - - - - - - - - 137622 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137622 - Intractable diarrhea-choanal atresia-eye anomalies syndrome - - Malformation syndrome - - - - - - - - 217266 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217266 - BNAR syndrome - - Malformation syndrome - - - - - - - - 451612 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=451612 - Familial congenital nasolacrimal duct obstruction - - Morphological anomaly - - - - - - - - 99141 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99141 - Lymphedema-posterior choanal atresia syndrome - - Malformation syndrome - - - - - - - - 589856 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589856 - Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome - - Malformation syndrome - - - - - - - - - - 435609 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435609 - Genetic larynx anomaly - - Category - - - - - - 2373 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2373 - Congenital laryngomalacia - - Malformation syndrome - - - - - - - - 2374 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2374 - Isolated congenital laryngeal web - - Malformation syndrome - - - - - - - - 1202 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1202 - Larynx atresia - - Malformation syndrome - - - - - - - - 2291 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2291 - Congenital velopharyngeal incompetence - - Morphological anomaly - - - - - - - - 2808 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2808 - Laryngeal abductor paralysis - - Malformation syndrome - - - - - - - - - - 435612 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435612 - Genetic tracheal anomaly - - Category - - - - - - 95430 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95430 - Congenital tracheomalacia - - Morphological anomaly - - - - - - - - 141127 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141127 - Congenital tracheal stenosis - - Morphological anomaly - - - - - - - - - - - - - - 211240 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=211240 - Genetic vascular anomaly - - Category - - - - - - 46724 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=46724 - Cerebral arteriovenous malformation - - Morphological anomaly - - - - - - - - 459526 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=459526 - Rare genetic capillary malformation - - Category - - - - - - 774 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=774 - Hereditary hemorrhagic telangiectasia - - Disease - - - - - - - - 624 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=624 - Familial multiple nevi flammei - - Morphological anomaly - - - - - - - - 458830 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=458830 - Rare capillary malformation with associated anomalies - - Category - - - - - - 2703 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2703 - Port-wine nevi-mega cisterna magna-hydrocephalus syndrome - - Malformation syndrome - - - - - - - - 60040 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=60040 - Megalencephaly-capillary malformation-polymicrogyria syndrome - - Malformation syndrome - - - - - - - - 3205 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3205 - Sturge-Weber syndrome - - Malformation syndrome - - - - - - - - 294016 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294016 - Microcephaly-capillary malformation syndrome - - Malformation syndrome - - - - - - - - 276280 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276280 - Hemihyperplasia-multiple lipomatosis syndrome - - Malformation syndrome - - - - - - - - - - - - 77240 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77240 - Primary lymphedema - - Category - - - - - - 568041 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=568041 - Primary lymphedema without systemic or visceral involvement - - Category - - - - - - 2416 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2416 - Congenital primary lymphedema without systemic or visceral involvement - - Clinical group - - - - - - 295000 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295000 - Amniotic band syndrome - - Malformation syndrome - - - - - - - - 79452 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79452 - Milroy disease - - Disease - - - - - - - - 2526 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2526 - Microcephaly-lymphedema-chorioretinopathy syndrome - - Malformation syndrome - - - - - - - - 2077 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2077 - German syndrome - - Malformation syndrome - - - - - - - - 569821 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=569821 - Congenital primary lymphedema of Gordon - - Disease - - - - - - - - - - 289825 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289825 - Late-onset primary lymphedema without systemic or visceral involvement - - Clinical group - - - - - - 568051 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=568051 - GJC2-related late-onset primary lymphedema - - Disease - - - - - - - - 1414 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1414 - Cholestasis-lymphedema syndrome - - Disease - - - - - - - - 99141 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99141 - Lymphedema-posterior choanal atresia syndrome - - Malformation syndrome - - - - - - - - 33001 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33001 - Lymphedema-distichiasis syndrome - - Malformation syndrome - - - - - - - - 569816 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=569816 - CELSR1-related late-onset primary lymphedema - - Disease - - - - - - - - 90186 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90186 - Meige disease - - Disease - - - - - - - - - - - - 568044 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=568044 - Primary lymphedema with systemic or visceral involvement - - Category - - - - - - 1563 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1563 - Dahlberg-Borer-Newcomer syndrome - - Malformation syndrome - - - - - - - - 662 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662 - Lymphedema with yellow nails - - Disease - - - - - - - - 69735 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69735 - Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome - - Disease - - - - - - - - 1116 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1116 - Aplasia cutis congenita-intestinal lymphangiectasia syndrome - - Disease - - - - - - - - 86915 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86915 - Lymphedema-atrial septal defects-facial changes syndrome - - Malformation syndrome - - - - - - - - 568056 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=568056 - Warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome - - Disease - - - - - - - - 568062 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=568062 - PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis - - Disease - - - - - - - - 568065 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=568065 - EPHB4-related lymphatic-related hydrops fetalis - - Disease - - - - - - - - 2136 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2136 - Hennekam syndrome - - Malformation syndrome - - - - - - - - - - 568047 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=568047 - Disorder with multisystemic involvement and primary lymphedema - - Category - - - - - - 324 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324 - Fabry disease - - Disease - - - - - - - - 487796 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=487796 - Takenouchi-Kosaki syndrome - - Malformation syndrome - - - - - - - - 648 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=648 - Noonan syndrome - - Malformation syndrome - - - - - - - - 881 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=881 - Turner syndrome - - Malformation syndrome - - - - - - 99226 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99226 - Monosomy X syndrome - - Etiological subtype - - - - - - - - 99228 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99228 - Mosaic monosomy X syndrome - - Etiological subtype - - - - - - - - 99413 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99413 - Turner syndrome due to structural X chromosome anomalies - - Etiological subtype - - - - - - - - - - 805 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=805 - Tuberous sclerosis complex - - Disease - - - - - - - - 1340 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1340 - Cardiofaciocutaneous syndrome - - Malformation syndrome - - - - - - - - 742 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=742 - Prolidase deficiency - - Disease - - - - - - - - 2710 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2710 - Oculodentodigital dysplasia - - Malformation syndrome - - - - - - - - 2836 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2836 - PEHO syndrome - - Disease - - - - - - - - 1655 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1655 - Müllerian derivatives-lymphangiectasia-polydactyly syndrome - - Malformation syndrome - - - - - - - - 48652 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=48652 - Phelan-McDermid syndrome - - Malformation syndrome - - - - - - 662172 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662172 - Phelan-McDermid syndrome due to SHANK3 mutation - - Etiological subtype - - - - - - - - 662169 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662169 - Phelan-McDermid syndrome due to 22q13.3 deletion - - Etiological subtype - - - - - - - - - - 69088 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69088 - Hypohidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome - - Disease - - - - - - - - 99807 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99807 - PEHO-like syndrome - - Disease - - - - - - - - - - - - 459537 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=459537 - Genetic complex vascular malformation with associated anomalies - - Category - - - - - - 744 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=744 - Proteus syndrome - - Malformation syndrome - - - - - - - - 2346 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2346 - Angioosteohypertrophic syndrome - - Clinical group - - - - - - 90308 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90308 - Capillary-lymphatic-venous malformation with segmental distribution - - Disease - - - - - - - - 90307 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90307 - Parkes Weber syndrome - - Disease - - - - - - - - - - 109 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=109 - Bannayan-Riley-Ruvalcaba syndrome - - Clinical subtype - - - - - - - - 137608 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137608 - Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome - - Clinical subtype - - - - - - - - 140944 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140944 - CLOVES syndrome - - Malformation syndrome - - - - - - - - 163634 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163634 - Maffucci syndrome - - Disease - - - - - - - - - - 459543 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=459543 - Rare genetic vascular tumor - - Category - - - - - - 42775 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=42775 - PHACE syndrome - - Malformation syndrome - - - - - - - - 71213 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71213 - Retinal capillary malformation - - Disease - - - - - - - - 673556 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=673556 - Pseudomyogenic hemangioendothelioma - - Disease - - - - - - - - 1063 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1063 - Tufted angioma - - Disease - - - - - - - - 1062 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1062 - Hereditary neurocutaneous malformation - - Disease - - - - - - - - 157791 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157791 - Epithelioid hemangioendothelioma - - Disease - - - - - - - - 675359 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=675359 - Anastomosing haemangioma - - Disease - - - - - - - - 675396 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=675396 - Epithelioid hemangioma - - Disease - - - - - - - - - - 137667 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137667 - Capillary malformation-arteriovenous malformation - - Clinical group - - - - - - 693907 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=693907 - RASA1-related capillary malformation-arteriovenous malformation - - Malformation syndrome - - - - - - - - 693912 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=693912 - EPHB4-related capillary malformation-arteriovenous malformation - - Malformation syndrome - - - - - - - - - - 459548 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=459548 - Rare genetic venous malformation - - Category - - - - - - 2451 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2451 - Mucocutaneous venous malformations - - Malformation syndrome - - - - - - - - 1059 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1059 - Blue rubber bleb nevus - - Malformation syndrome - - - - - - - - 221061 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221061 - Familial cerebral cavernous malformation - - Malformation syndrome - - - - - - - - 83454 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83454 - Glomuvenous malformation - - Malformation syndrome - - - - - - - - - - 466729 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466729 - Familial patent arterial duct - - Morphological anomaly - - - - - - - - 1053 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1053 - Vein of Galen aneurysmal malformation - - Morphological anomaly - - - - - - - - - - 271853 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=271853 - Genetic cardiac anomaly - - Category - - - - - - 1478 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1478 - Interatrial communication - - Morphological anomaly - - - - - - 99103 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99103 - Atrial septal defect, ostium secundum type - - Clinical subtype - - - - - - - - 99104 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99104 - Atrial septal defect, coronary sinus type - - Clinical subtype - - - - - - - - 99105 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99105 - Atrial septal defect, sinus venosus type - - Clinical subtype - - - - - - - - 99106 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99106 - Atrial septal defect, ostium primum type - - Clinical subtype - - - - - - - - - - 3193 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3193 - Supravalvular aortic stenosis - - Morphological anomaly - - - - - - - - 566862 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=566862 - Left sided atrial isomerism - - Malformation syndrome - - - - - - - - 3426 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3426 - Double outlet right ventricle - - Morphological anomaly - - - - - - 99043 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99043 - Double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis - - Clinical subtype - - - - - - - - 99045 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99045 - Double outlet right ventricle with subpulmonary ventricular septal defect - - Clinical subtype - - - - - - - - 99046 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99046 - Double outlet right ventricle with non-committed subpulmonary ventricular septal defect - - Clinical subtype - - - - - - - - 423693 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423693 - Double outlet right ventricle with subaortic or doubly committed ventricular septal defect - - Clinical subtype - - - - - - - - 423712 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=423712 - Double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy - - Clinical subtype - - - - - - - - - - 860 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=860 - Congenitally uncorrected transposition of the great arteries - - Morphological anomaly - - - - - - 99042 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99042 - Congenitally uncorrected transposition of the great arteries with coarctation - - Clinical subtype - - - - - - - - 216718 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216718 - Isolated congenitally uncorrected transposition of the great arteries - - Clinical subtype - - - - - - - - 216729 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216729 - Congenitally uncorrected transposition of the great arteries with cardiac malformation - - Clinical subtype - - - - - - - - - - 101063 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101063 - Situs inversus totalis - - Morphological anomaly - - - - - - - - 157769 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157769 - Situs ambiguus - - Morphological anomaly - - - - - - - - 369891 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369891 - Developmental delay-facial dysmorphism syndrome due to MED13L deficiency - - Malformation syndrome - - - - - - - - 402075 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=402075 - Familial bicuspid aortic valve - - Morphological anomaly - - - - - - - - 466729 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466729 - Familial patent arterial duct - - Morphological anomaly - - - - - - - - 97548 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97548 - Right sided atrial isomerism - - Malformation syndrome - - - - - - - - 98722 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98722 - Atrioventricular septal defect - - Clinical group - - - - - - 1329 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1329 - Complete atrioventricular septal defect - - Morphological anomaly - - - - - - 99068 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99068 - Complete atrioventricular septal defect-tetralogy of Fallot - - Clinical subtype - - - - - - - - 99067 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99067 - Complete atrioventricular septal defect with ventricular hypoplasia - - Clinical subtype - - - - - - - - 576227 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=576227 - Complete atrioventricular septal defect without ventricular hypoplasia - - Clinical subtype - - - - - - - - - - 1330 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1330 - Partial atrioventricular septal defect - - Morphological anomaly - - - - - - 576235 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=576235 - Partial atrioventricular septal defect without ventricular hypoplasia - - Clinical subtype - - - - - - - - 576232 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=576232 - Partial atrioventricular septal defect with ventricular hypoplasia - - Clinical subtype - - - - - - - - - - 576242 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=576242 - Intermediate atrioventricular septal defect - - Morphological anomaly - - - - - - - - - - 741 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=741 - Familial mitral valve prolapse - - Morphological anomaly - - - - - - - - - - 280403 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280403 - Familial omphalocele syndrome with facial dysmorphism - - Malformation syndrome - - - - - - - - 325690 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325690 - Genetic difference of sex development - - Category - - - - - - 325546 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325546 - Sex chromosome difference of sex development - - Category - - - - - - 881 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=881 - Turner syndrome - - Malformation syndrome - - - - - - 99226 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99226 - Monosomy X syndrome - - Etiological subtype - - - - - - - - 99228 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99228 - Mosaic monosomy X syndrome - - Etiological subtype - - - - - - - - 99413 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99413 - Turner syndrome due to structural X chromosome anomalies - - Etiological subtype - - - - - - - - - - 10 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=10 - 48,XXYY syndrome - - Malformation syndrome - - - - - - - - 1772 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1772 - 45,X/46,XY mixed gonadal dysgenesis - - Malformation syndrome - - - - - - - - 96263 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96263 - 48,XXXY syndrome - - Malformation syndrome - - - - - - - - 96264 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96264 - 49,XXXXY syndrome - - Malformation syndrome - - - - - - - - 199310 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199310 - Tetragametic chimerism syndrome - - Malformation syndrome - - - - - - - - - - 325697 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325697 - Genetic 46,XX difference of sex development - - Category - - - - - - 90776 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90776 - 46,XX difference of sex development induced by fetal androgens excess - - Category - - - - - - 786 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=786 - Generalized glucocorticoid resistance syndrome - - Disease - - - - - - - - 90791 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90791 - Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency - - Disease - - - - - - - - 90794 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90794 - Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency - - Disease - - - - - - 315306 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=315306 - Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form - - Clinical subtype - - - - - - - - 315311 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=315311 - Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form - - Clinical subtype - - - - - - - - - - 90795 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90795 - Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency - - Disease - - - - - - - - 95699 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95699 - Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency - - Disease - - - - - - - - 63269 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=63269 - Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis - - Clinical subtype - - - - - - - - - - 325055 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325055 - 46,XX disorder of gonadal development - - Category - - - - - - 243 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=243 - 46,XX gonadal dysgenesis - - Malformation syndrome - - - - - - - - 2138 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2138 - 46,XX ovotesticular difference of sex development - - Malformation syndrome - - - - - - - - 393 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=393 - 46,XX testicular difference of sex development - - Malformation syndrome - - - - - - - - 444048 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=444048 - 46,XX ovarian dysgenesis-short stature syndrome - - Disease - - - - - - - - - - 325061 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325061 - 46,XX difference of sex development induced by fetoplacental androgens excess - - Category - - - - - - 91 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91 - Aromatase deficiency - - Disease - - - - - - - - - - 325109 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325109 - Syndrome with 46,XX difference of sex development - - Category - - - - - - 991 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=991 - PAGOD syndrome - - Malformation syndrome - - - - - - - - 2855 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2855 - Perrault syndrome - - Disease - - - - - - 642945 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642945 - Perrault syndrome type 1 - - Clinical subtype - - - - - - - - 642976 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642976 - Perrault syndrome type 2 - - Clinical subtype - - - - - - - - - - 2973 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2973 - 46,XX difference of sex development-anorectal anomalies syndrome - - Malformation syndrome - - - - - - - - 2975 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2975 - 46,XX difference of sex development-skeletal anomalies syndrome - - Malformation syndrome - - - - - - - - 85112 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85112 - Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome - - Disease - - - - - - - - 137631 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137631 - Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome - - Disease - - - - - - - - 139466 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139466 - SERKAL syndrome - - Malformation syndrome - - - - - - - - 247768 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247768 - Müllerian aplasia and hyperandrogenism - - Malformation syndrome - - - - - - - - - - - - 325706 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325706 - Genetic 46,XY difference of sex development - - Category - - - - - - 98087 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98087 - Syndrome with 46,XY difference of sex development - - Category - - - - - - 893 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=893 - WAGR syndrome - - Malformation syndrome - - - - - - - - 1642 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1642 - Distal deletion 9p syndrome - - Malformation syndrome - - - - - - - - 1770 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1770 - XY type gonadal dysgenesis-associated anomalies syndrome - - Malformation syndrome - - - - - - - - 2983 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2983 - Difference of sex development-intellectual disability syndrome - - Disease - - - - - - - - 1422 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1422 - Chondrodysplasia-difference of sex development syndrome - - Malformation syndrome - - - - - - - - 847 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=847 - X-linked alpha-thalassemia-intellectual disability syndrome - - Malformation syndrome - - - - - - - - 140 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140 - Campomelic dysplasia - - Malformation syndrome - - - - - - - - 991 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=991 - PAGOD syndrome - - Malformation syndrome - - - - - - - - 2282 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2282 - Dysmorphism-short stature-deafness-difference of sex development syndrome - - Malformation syndrome - - - - - - - - 3097 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3097 - Meacham syndrome - - Malformation syndrome - - - - - - - - 220 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220 - Denys-Drash syndrome - - Disease - - - - - - - - 347 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=347 - Frasier syndrome - - Disease - - - - - - - - 452 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=452 - X-linked lissencephaly with abnormal genitalia - - Malformation syndrome - - - - - - - - 95700 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95700 - Familial adrenal hypoplasia with absent pituitary luteinizing hormone - - Disease - - - - - - - - 168563 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168563 - 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome - - Malformation syndrome - - - - - - - - 168593 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168593 - Sudden infant death-dysgenesis of the testes syndrome - - Malformation syndrome - - - - - - - - 456328 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=456328 - X-linked myotubular myopathy-abnormal genitalia syndrome - - Disease - - - - - - - - 494433 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=494433 - MIRAGE syndrome - - Disease - - - - - - - - 2075 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2075 - Genitopalatocardiac syndrome - - Malformation syndrome - - - - - - - - - - 325118 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325118 - 46,XY disorder of gonadal development - - Category - - - - - - 242 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=242 - 46,XY complete gonadal dysgenesis - - Malformation syndrome - - - - - - - - 983 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=983 - Testicular regression syndrome - - Morphological anomaly - - - - - - - - 251510 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251510 - 46,XY partial gonadal dysgenesis - - Malformation syndrome - - - - - - - - 325124 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325124 - Testicular agenesis - - Morphological anomaly - - - - - - - - 325345 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325345 - 46,XY ovotesticular difference of sex development - - Disease - - - - - - - - - - 325713 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325713 - Genetic 46,XY difference of sex development of endocrine origin - - Category - - - - - - 754 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=754 - Androgen insensitivity syndrome - - Clinical group - - - - - - 90797 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90797 - Partial androgen insensitivity syndrome - - Disease - - - - - - - - 99429 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99429 - Complete androgen insensitivity syndrome - - Disease - - - - - - - - - - 325357 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325357 - 46,XY difference of sex development due to impaired androgen production - - Category - - - - - - 755 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=755 - Leydig cell hypoplasia - - Disease - - - - - - 96265 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96265 - Leydig cell hypoplasia due to complete LH resistance - - Clinical subtype - - - - - - - - 96266 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96266 - Leydig cell hypoplasia due to partial LH resistance - - Clinical subtype - - - - - - - - 325448 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325448 - Leydig cell hypoplasia due to LHB deficiency - - Clinical subtype - - - - - - - - - - 90783 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90783 - 46,XY difference of sex development due to a testosterone synthesis defect - - Category - - - - - - 90786 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90786 - 46,XY difference of sex development due to adrenal and testicular steroidogenesis defect - - Category - - - - - - 90790 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90790 - Congenital lipoid adrenal hyperplasia due to STAR deficency - - Disease - - - - - - 325524 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325524 - Classic congenital lipoid adrenal hyperplasia due to STAR deficency - - Clinical subtype - - - - - - - - 325529 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325529 - Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency - - Clinical subtype - - - - - - - - - - 90791 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90791 - Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency - - Disease - - - - - - - - 90793 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90793 - Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency - - Disease - - - - - - - - 95699 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95699 - Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency - - Disease - - - - - - - - 168558 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168558 - 46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency - - Disease - - - - - - - - 63269 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=63269 - Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis - - Clinical subtype - - - - - - - - - - 90787 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90787 - 46,XY difference of sex development due to testicular steroidogenesis defect - - Category - - - - - - 752 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=752 - 46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency - - Disease - - - - - - - - 90796 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90796 - 46,XY difference of sex development due to isolated 17,20-lyase deficiency - - Disease - - - - - - - - - - 325511 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325511 - 46,XY difference of sex development due to a cholesterol synthesis defect - - Category - - - - - - 818 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=818 - Smith-Lemli-Opitz syndrome - - Malformation syndrome - - - - - - - - - - - - 98086 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98086 - 46,XY difference of sex development due to a defect in testosterone metabolism by peripheral tissue - - Category - - - - - - 753 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=753 - 46,XY difference of sex development due to 5-alpha-reductase 2 deficiency - - Disease - - - - - - - - - - 443090 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443090 - 46,XY difference of sexual development due to dihydrotestosterone backdoor pathway biosynthesis defect - - Category - - - - - - 443087 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443087 - 46,XY difference of sex development due to testicular 17,20-desmolase deficiency - - Disease - - - - - - - - - - - - - - - - - - 363245 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363245 - Genetic progeroid syndrome - - Category - - - - - - 90342 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90342 - Xeroderma pigmentosum variant - - Disease - - - - - - - - 647667 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=647667 - Mandibuloacral dysplasia associated to MTX2 - - Malformation syndrome - - - - - - - - 659873 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=659873 - Wormian bones-micrognathia-abnormal dentition-progeroid syndrome - - Malformation syndrome - - - - - - - - 508 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508 - Donohue syndrome - - Malformation syndrome - - - - - - - - 191 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=191 - Cockayne syndrome - - Disease - - - - - - 1466 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1466 - COFS syndrome - - Clinical subtype - - - - - - - - 90321 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90321 - Cockayne syndrome type 1 - - Clinical subtype - - - - - - - - 90322 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90322 - Cockayne syndrome type 2 - - Clinical subtype - - - - - - - - 90324 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90324 - Cockayne syndrome type 3 - - Clinical subtype - - - - - - - - - - 902 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=902 - Werner syndrome - - Disease - - - - - - - - 528 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=528 - Congenital generalized lipodystrophy - - Disease - - - - - - 696289 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=696289 - Congenital generalized lipodystrophy type 2 - - Clinical subtype - - - - - - - - 696242 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=696242 - PPARG-associated congenital generalized lipodystrophy - - Clinical subtype - - - - - - - - 696206 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=696206 - Congenital generalized lipodystrophy type 3 - - Clinical subtype - - - - - - - - 696189 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=696189 - Congenital generalized lipodystrophy type 1 - - Clinical subtype - - - - - - - - 228429 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228429 - Congenital generalized lipodystrophy type 4 - - Clinical subtype - - - - - - - - - - 2348 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2348 - Familial partial lipodystrophy, Dunnigan type - - Disease - - - - - - - - 2457 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2457 - Mandibuloacral dysplasia - - Malformation syndrome - - - - - - 90153 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90153 - Mandibuloacral dysplasia with type A lipodystrophy - - Clinical subtype - - - - - - - - 90154 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90154 - Mandibuloacral dysplasia with type B lipodystrophy - - Clinical subtype - - - - - - - - - - 740 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=740 - Hutchinson-Gilford progeria syndrome - - Disease - - - - - - - - 2959 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2959 - Progeria-short stature-pigmented nevi syndrome - - Malformation syndrome - - - - - - - - 2985 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2985 - Pseudoprogeria syndrome - - Malformation syndrome - - - - - - - - 2909 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2909 - Rothmund-Thomson syndrome - - Disease - - - - - - 221008 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221008 - Rothmund-Thomson syndrome type 1 - - Clinical subtype - - - - - - - - 221016 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221016 - Rothmund-Thomson syndrome type 2 - - Clinical subtype - - - - - - - - - - 3163 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3163 - SHORT syndrome - - Malformation syndrome - - - - - - - - 3455 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3455 - Wiedemann-Rautenstrauch syndrome - - Malformation syndrome - - - - - - - - 910 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=910 - Xeroderma pigmentosum - - Disease - - - - - - - - 50811 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50811 - Lipodystrophy-intellectual disability-deafness syndrome - - Disease - - - - - - - - 79474 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79474 - Atypical Werner syndrome - - Disease - - - - - - - - 220295 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220295 - Xeroderma pigmentosum-Cockayne syndrome complex - - Disease - - - - - - - - 276432 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276432 - Ogden syndrome - - Malformation syndrome - - - - - - - - 280576 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280576 - Nestor-Guillermo progeria syndrome - - Malformation syndrome - - - - - - - - 363649 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363649 - Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome - - Disease - - - - - - - - 363665 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363665 - Acroosteolysis-keloid-like lesions-premature aging syndrome - - Disease - - - - - - - - 435953 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435953 - Progeroid features-hepatocellular carcinoma predisposition syndrome - - Disease - - - - - - - - 438134 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=438134 - PCNA-related progressive neurodegenerative photosensitivity syndrome - - Disease - - - - - - - - - - 404584 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404584 - Rare genetic bone development disorder - - Category - - - - - - 364526 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=364526 - Primary bone dysplasia - - Category - - - - - - 498445 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498445 - Genetic inflammatory or rheumatoid-like osteoarthropathy - - Category - - - - - - 1159 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1159 - Progressive pseudorheumatoid dysplasia - - Disease - - - - - - - - 498474 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498474 - Hyaline fibromatosis syndrome - - Disease - - - - - - 2176 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2176 - Infantile systemic hyalinosis - - Clinical subtype - - - - - - - - 2028 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2028 - Juvenile hyaline fibromatosis - - Clinical subtype - - - - - - - - - - 1451 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1451 - CINCA syndrome - - Disease - - - - - - - - 210115 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210115 - Sterile multifocal osteomyelitis with periostitis and pustulosis - - Disease - - - - - - - - 53715 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53715 - Familial tumoral calcinosis - - Disease - - - - - - 306658 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306658 - Familial normophosphatemic tumoral calcinosis - - Clinical subtype - - - - - - - - 306661 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306661 - Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome - - Clinical subtype - - - - - - - - - - 77297 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77297 - Majeed syndrome - - Disease - - - - - - - - - - 498448 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498448 - Overgrowth or tall stature syndrome with skeletal involvement - - Category - - - - - - 622925 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=622925 - X-linked severe syndromic thoracic aortic aneurysm and dissection - - Malformation syndrome - - - - - - - - 659387 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=659387 - PRC-2 complex-related overgrowth spectrum - - Clinical group - - - - - - 3447 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3447 - Weaver syndrome - - Malformation syndrome - - - - - - - - 659396 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=659396 - Cohen-Gibson syndrome - - Malformation syndrome - - - - - - - - 659463 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=659463 - Imagawa-Matsumoto syndrome - - Malformation syndrome - - - - - - - - - - 558 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=558 - Marfan syndrome - - Disease - - - - - - 284963 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284963 - Marfan syndrome type 1 - - Clinical subtype - - - - - - - - 284973 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284973 - Marfan syndrome type 2 - - Clinical subtype - - - - - - - - - - 744 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=744 - Proteus syndrome - - Malformation syndrome - - - - - - - - 821 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=821 - Sotos syndrome - - Disease - - - - - - - - 561 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=561 - Marshall-Smith syndrome - - Malformation syndrome - - - - - - - - 140944 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140944 - CLOVES syndrome - - Malformation syndrome - - - - - - - - 115 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=115 - Congenital contractural arachnodactyly - - Malformation syndrome - - - - - - - - 60030 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=60030 - Loeys-Dietz syndrome - - Malformation syndrome - - - - - - - - 498488 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498488 - Overgrowth syndrome with 2q37 translocation - - Malformation syndrome - - - - - - - - 329191 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329191 - Tall stature-long halluces-multiple extra-epiphyses syndrome - - Disease - - - - - - - - 498485 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498485 - Overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome - - Malformation syndrome - - - - - - - - 477831 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477831 - Kosaki overgrowth syndrome - - Malformation syndrome - - - - - - - - 597738 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=597738 - Luscan-Lumish syndrome - - Malformation syndrome - - - - - - - - - - 364536 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=364536 - Primary bone dysplasia with micromelia - - Category - - - - - - 15 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=15 - Achondroplasia - - Disease - - - - - - - - 429 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=429 - Hypochondroplasia - - Disease - - - - - - - - 628 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=628 - Diastrophic dysplasia - - Disease - - - - - - - - 2655 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2655 - Thanatophoric dysplasia - - Disease - - - - - - 1860 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1860 - Thanatophoric dysplasia type 1 - - Clinical subtype - - - - - - - - 93274 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93274 - Thanatophoric dysplasia type 2 - - Clinical subtype - - - - - - - - - - 1422 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1422 - Chondrodysplasia-difference of sex development syndrome - - Malformation syndrome - - - - - - - - 85165 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85165 - Severe achondroplasia-developmental delay-acanthosis nigricans syndrome - - Disease - - - - - - - - - - 364541 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=364541 - Otopalatodigital syndrome spectrum disorder - - Clinical group - - - - - - 90652 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90652 - Otopalatodigital syndrome type 2 - - Malformation syndrome - - - - - - - - 1826 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1826 - Frontometaphyseal dysplasia - - Disease - - - - - - - - 2484 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2484 - Melnick-Needles syndrome - - Malformation syndrome - - - - - - - - 90650 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90650 - Otopalatodigital syndrome type 1 - - Malformation syndrome - - - - - - - - 137834 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137834 - Frank-Ter Haar syndrome - - Disease - - - - - - - - - - 435804 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435804 - Short stature-advanced bone age-early-onset osteoarthritis syndrome - - Disease - - - - - - - - 253 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=253 - Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia - - Clinical group - - - - - - 642099 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642099 - Spondyloepimetaphyseal dysplasia with joint laxity, Beighton type - - Disease - - - - - - - - 664377 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=664377 - MGP-related spondyloepiphyseal dysplasia - - Malformation syndrome - - - - - - - - 2114 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2114 - Hip dysplasia, Beukes type - - Disease - - - - - - - - 800 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=800 - Schwartz-Jampel syndrome - - Disease - - - - - - - - 239 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=239 - Dyggve-Melchior-Clausen disease - - Disease - - - - - - - - 560 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=560 - Marshall syndrome - - Malformation syndrome - - - - - - - - 2635 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2635 - Metatropic dysplasia - - Disease - - - - - - - - 828 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=828 - Stickler syndrome - - Disease - - - - - - 90653 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90653 - Stickler syndrome type 1 - - Clinical subtype - - - - - - - - 90654 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90654 - Stickler syndrome type 2 - - Clinical subtype - - - - - - - - 250984 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=250984 - Autosomal recessive Stickler syndrome - - Clinical subtype - - - - - - - - - - 1159 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1159 - Progressive pseudorheumatoid dysplasia - - Disease - - - - - - - - 1427 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1427 - Autosomal recessive otospondylomegaepiphyseal dysplasia - - Disease - - - - - - - - 1667 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1667 - Wolcott-Rallison syndrome - - Disease - - - - - - - - 1830 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1830 - Schimke immuno-osseous dysplasia - - Disease - - - - - - - - 1865 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1865 - Dyssegmental dysplasia, Silverman-Handmaker type - - Disease - - - - - - - - 485 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=485 - Kniest dysplasia - - Disease - - - - - - - - 3101 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3101 - Richieri Costa-da Silva syndrome - - Malformation syndrome - - - - - - - - 1856 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1856 - Spondyloperipheral dysplasia-short ulna syndrome - - Disease - - - - - - - - 83629 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83629 - Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome - - Disease - - - - - - - - 2619 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2619 - Brachydactylous dwarfism, Mseleni type - - Disease - - - - - - - - 93279 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93279 - Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis - - Disease - - - - - - - - 93282 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93282 - Spondyloepimetaphyseal dysplasia, PAPSS2 type - - Disease - - - - - - - - 93283 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93283 - Spondyloepiphyseal dysplasia, Kimberley type - - Disease - - - - - - - - 93284 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93284 - Spondyloepiphyseal dysplasia tarda - - Disease - - - - - - - - 93346 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93346 - Spondyloepimetaphyseal dysplasia congenita, Strudwick type - - Disease - - - - - - - - 93347 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93347 - Anauxetic dysplasia - - Disease - - - - - - - - 93349 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93349 - X-linked spondyloepimetaphyseal dysplasia - - Disease - - - - - - - - 93351 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93351 - Spondyloepimetaphyseal dysplasia, Irapa type - - Disease - - - - - - - - 93352 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93352 - Spondyloepimetaphyseal dysplasia, Shohat type - - Disease - - - - - - - - 93356 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93356 - Spondyloepimetaphyseal dysplasia, Missouri type - - Disease - - - - - - - - 93357 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93357 - SPONASTRIME dysplasia - - Disease - - - - - - - - 93358 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93358 - Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome - - Disease - - - - - - - - 93360 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93360 - Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type - - Disease - - - - - - - - 94068 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94068 - Spondyloepiphyseal dysplasia congenita - - Disease - - - - - - - - 99642 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99642 - Spondyloepimetaphyseal dysplasia, Handigodu type - - Disease - - - - - - - - 137678 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137678 - Spondyloepiphyseal dysplasia with metatarsal shortening - - Disease - - - - - - - - 156728 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156728 - Spondyloepimetaphyseal dysplasia, matrilin-3 type - - Disease - - - - - - - - 156731 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156731 - Dyssegmental dysplasia, Rolland-Desbuquois type - - Disease - - - - - - - - 157965 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157965 - SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome - - Clinical subtype - - - - - - - - 163649 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163649 - Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome - - Disease - - - - - - - - 163654 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163654 - Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome - - Disease - - - - - - - - 163662 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163662 - Spondyloepiphyseal dysplasia, Reardon type - - Disease - - - - - - - - 163665 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163665 - Spondyloepiphyseal dysplasia tarda, Kohn type - - Disease - - - - - - - - 163668 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163668 - Spondyloepiphyseal dysplasia, MacDermot type - - Malformation syndrome - - - - - - - - 166100 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166100 - Autosomal dominant otospondylomegaepiphyseal dysplasia - - Malformation syndrome - - - - - - - - 168443 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168443 - Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome - - Disease - - - - - - - - 168451 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168451 - Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome - - Disease - - - - - - - - 168454 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168454 - Spondyloepimetaphyseal dysplasia, Geneviève type - - Disease - - - - - - - - 171866 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171866 - Spondyloepimetaphyseal dysplasia, aggrecan type - - Disease - - - - - - - - 178355 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178355 - Smith-McCort dysplasia - - Disease - - - - - - - - 228387 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228387 - Spondylo-megaepiphyseal-metaphyseal dysplasia - - Disease - - - - - - - - 263482 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263482 - Spondyloepimetaphyseal dysplasia, Maroteaux type - - Disease - - - - - - - - 353298 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353298 - Roifman syndrome - - Disease - - - - - - - - 370015 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370015 - Spondyloepimetaphyseal dysplasia, Isidor-Toutain type - - Disease - - - - - - - - 420794 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=420794 - Cono-spondylar dysplasia - - Malformation syndrome - - - - - - - - 436174 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436174 - Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome - - Disease - - - - - - - - 642085 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642085 - EXOC6B-related spondyloepimetaphyseal dysplasia with joint laxity - - Disease - - - - - - - - 496751 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=496751 - EVEN-plus syndrome - - Malformation syndrome - - - - - - - - 611207 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=611207 - Spondyloepiphyseal dysplasia-sensorineural hearing loss-intellectual disability-Leber congenital amaurosis syndrome - - Clinical syndrome - - - - - - - - 1458 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1458 - CODAS syndrome - - Malformation syndrome - - - - - - - - 457395 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457395 - Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome - - Malformation syndrome - - - - - - - - 459070 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=459070 - X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome - - Malformation syndrome - - - - - - - - 459051 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=459051 - Spondyloepiphyseal dysplasia, Stanescu type - - Disease - - - - - - - - - - 254 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254 - Spondylometaphyseal dysplasia - - Clinical group - - - - - - 168555 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168555 - Spondylometaphyseal dysplasia, A4 type - - Disease - - - - - - - - 448267 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=448267 - Regressive spondylometaphyseal dysplasia - - Malformation syndrome - - - - - - - - 1855 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1855 - Spondyloenchondrodysplasia - - Malformation syndrome - - - - - - - - 85167 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85167 - Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome - - Disease - - - - - - - - 93314 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93314 - Spondylometaphyseal dysplasia, Kozlowski type - - Disease - - - - - - - - 93315 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93315 - Spondylometaphyseal dysplasia, 'corner fracture' type - - Disease - - - - - - - - 93316 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93316 - Spondylometaphyseal dysplasia, Schmidt type - - Disease - - - - - - - - 166272 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166272 - Odontochondrodysplasia - - Malformation syndrome - - - - - - - - 168544 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168544 - Spondylometaphyseal dysplasia, Golden type - - Disease - - - - - - - - 168549 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168549 - Axial spondylometaphyseal dysplasia - - Disease - - - - - - - - 168552 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168552 - Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome - - Disease - - - - - - - - 589435 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589435 - Spondylometaphyseal dysplasia-corneal dystrophy syndrome - - Malformation syndrome - - - - - - - - - - 93426 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93426 - Ciliopathies with major skeletal involvement - - Category - - - - - - 1505 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1505 - Short rib-polydactyly syndrome - - Clinical group - - - - - - 498497 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498497 - Short rib-polydactyly syndrome type 5 - - Malformation syndrome - - - - - - - - 474 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=474 - Jeune syndrome - - Malformation syndrome - - - - - - - - 289 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289 - Ellis Van Creveld syndrome - - Malformation syndrome - - - - - - - - 1515 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1515 - Cranioectodermal dysplasia - - Malformation syndrome - - - - - - - - 93268 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93268 - Short rib-polydactyly syndrome, Beemer-Langer type - - Malformation syndrome - - - - - - - - 93269 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93269 - Short rib-polydactyly syndrome, Majewski type - - Malformation syndrome - - - - - - - - 93270 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93270 - Short rib-polydactyly syndrome, Saldino-Noonan type - - Malformation syndrome - - - - - - - - 93271 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93271 - Short rib-polydactyly syndrome, Verma-Naumoff type - - Malformation syndrome - - - - - - - - 397715 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397715 - Joubert syndrome with Jeune asphyxiating thoracic dystrophy - - Malformation syndrome - - - - - - - - - - 1803 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1803 - Thoracomelic dysplasia - - Disease - - - - - - - - 2753 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2753 - Orofaciodigital syndrome type 4 - - Malformation syndrome - - - - - - - - 3317 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3317 - Thoracolaryngopelvic dysplasia - - Malformation syndrome - - - - - - - - 140969 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140969 - Saldino-Mainzer syndrome - - Disease - - - - - - - - 464366 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464366 - NEK9-related lethal skeletal dysplasia - - Malformation syndrome - - - - - - - - 1861 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1861 - Thoracic dysplasia-hydrocephalus syndrome - - Malformation syndrome - - - - - - - - - - 93429 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93429 - Multiple epiphyseal dysplasia and pseudoachondroplasia - - Category - - - - - - 251 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251 - Multiple epiphyseal dysplasia - - Clinical group - - - - - - 93307 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93307 - Multiple epiphyseal dysplasia type 4 - - Disease - - - - - - - - 93308 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93308 - Multiple epiphyseal dysplasia type 1 - - Disease - - - - - - - - 93311 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93311 - Multiple epiphyseal dysplasia type 5 - - Disease - - - - - - - - 166002 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166002 - Multiple epiphyseal dysplasia due to collagen 9 anomaly - - Disease - - - - - - - - 166016 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166016 - Multiple epiphyseal dysplasia, Lowry type - - Disease - - - - - - - - 166024 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166024 - Multiple epiphyseal dysplasia-macrocephaly-facial dysmorphism syndrome - - Disease - - - - - - - - 166029 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166029 - Multiple epiphyseal dysplasia-severe proximal femoral dysplasia syndrome - - Disease - - - - - - - - 166032 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166032 - Multiple epiphyseal dysplasia-miniepiphyses syndrome - - Disease - - - - - - - - 647676 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=647676 - Multiple epiphyseal dysplasia type 7 - - Disease - - - - - - - - - - 1824 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1824 - Lowry-Wood syndrome - - Disease - - - - - - - - 750 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=750 - Pseudoachondroplasia - - Disease - - - - - - - - 250984 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=250984 - Autosomal recessive Stickler syndrome - - Clinical subtype - - - - - - - - - - 93430 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93430 - Multiple metaphyseal dysplasia - - Clinical group - - - - - - 1040 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1040 - Metaphyseal anadysplasia - - Disease - - - - - - - - 174 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=174 - Metaphyseal chondrodysplasia, Schmid type - - Disease - - - - - - - - 1837 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1837 - Metaphyseal chondrodysplasia, Rosenberg type - - Disease - - - - - - - - 2501 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2501 - Metaphyseal chondrodysplasia, Spahr type - - Disease - - - - - - - - 2502 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2502 - Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome - - Malformation syndrome - - - - - - - - 2504 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2504 - Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome - - Malformation syndrome - - - - - - - - 175 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=175 - Cartilage-hair hypoplasia - - Disease - - - - - - - - 811 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=811 - Shwachman-Diamond syndrome - - Disease - - - - - - - - 33067 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33067 - Metaphyseal chondrodysplasia, Jansen type - - Disease - - - - - - - - 166038 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166038 - Metaphyseal chondrodysplasia, Kaitila type - - Disease - - - - - - - - 79106 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79106 - Eiken syndrome - - Malformation syndrome - - - - - - - - - - 93434 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93434 - Spondylodysplastic dysplasia - - Clinical group - - - - - - 622934 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=622934 - SBDS-related severe neonatal spondylometaphyseal dysplasia - - Malformation syndrome - - - - - - - - 2746 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2746 - Opsismodysplasia - - Disease - - - - - - - - 932 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=932 - Achondrogenesis - - Disease - - - - - - 93296 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93296 - Achondrogenesis type 2 - - Clinical subtype - - - - - - - - 93297 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93297 - Hypochondrogenesis - - Clinical subtype - - - - - - - - 93298 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93298 - Achondrogenesis type 1B - - Clinical subtype - - - - - - - - 93299 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93299 - Achondrogenesis type 1A - - Clinical subtype - - - - - - - - - - 1293 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1293 - Brachyolmia - - Clinical group - - - - - - 448242 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=448242 - Autosomal recessive brachyolmia - - Malformation syndrome - - - - - - - - 2899 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2899 - Brachyolmia-amelogenesis imperfecta syndrome - - Malformation syndrome - - - - - - - - 93302 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93302 - Brachyolmia, Maroteaux type - - Malformation syndrome - - - - - - - - 93304 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93304 - Autosomal dominant brachyolmia - - Malformation syndrome - - - - - - - - - - 1436 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1436 - X-linked skeletal dysplasia-intellectual disability syndrome - - Malformation syndrome - - - - - - - - 3144 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3144 - Schneckenbecken dysplasia - - Malformation syndrome - - - - - - - - 3180 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3180 - Spondylocamptodactyly syndrome - - Malformation syndrome - - - - - - - - 3275 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3275 - Spondylocarpotarsal synostosis - - Malformation syndrome - - - - - - - - 66637 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66637 - Diaphanospondylodysostosis - - Malformation syndrome - - - - - - - - 85166 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85166 - Platyspondylic dysplasia, Torrance type - - Malformation syndrome - - - - - - - - 93317 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93317 - Spondylometaphyseal dysplasia, Sedaghatian type - - Malformation syndrome - - - - - - - - 401979 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401979 - Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type - - Malformation syndrome - - - - - - - - 508533 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=508533 - Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome - - Disease - - - - - - - - - - 93436 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93436 - Acromelic dysplasia - - Clinical group - - - - - - 623695 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=623695 - MIR140-related spondyloepiphyseal dysplasia - - Malformation syndrome - - - - - - - - 464288 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464288 - Short stature-brachydactyly-obesity-global developmental delay syndrome - - Malformation syndrome - - - - - - - - 457059 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457059 - Pseudohypoparathyroidism with Albright hereditary osteodystrophy - - Clinical group - - - - - - 79443 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79443 - Pseudohypoparathyroidism type 1A - - Disease - - - - - - - - 79444 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79444 - Pseudohypoparathyroidism type 1C - - Disease - - - - - - - - 79445 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79445 - Pseudopseudohypoparathyroidism - - Disease - - - - - - - - - - 950 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=950 - Acrodysostosis - - Malformation syndrome - - - - - - - - 969 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=969 - Acromicric dysplasia - - Malformation syndrome - - - - - - - - 2623 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2623 - Geleophysic dysplasia - - Malformation syndrome - - - - - - - - 3041 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3041 - Intellectual disability-balding-patella luxation-acromicria syndrome - - Malformation syndrome - - - - - - - - 63442 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=63442 - Angel-shaped phalango-epiphyseal dysplasia - - Malformation syndrome - - - - - - - - 63446 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=63446 - Acrocapitofemoral dysplasia - - Malformation syndrome - - - - - - - - 85168 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85168 - Craniofacial conodysplasia - - Malformation syndrome - - - - - - - - 88630 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88630 - Terminal osseous dysplasia-pigmentary defects syndrome - - Malformation syndrome - - - - - - - - 324764 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324764 - Trichorhinophalangeal syndrome - - Clinical group - - - - - - 502 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=502 - Trichorhinophalangeal syndrome type 2 - - Malformation syndrome - - - - - - - - 77258 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77258 - Trichorhinophalangeal syndrome type 1 - - Malformation syndrome - - - - - - - - - - 3449 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3449 - Weill-Marchesani syndrome - - Malformation syndrome - - - - - - - - 2588 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2588 - Myhre syndrome - - Malformation syndrome - - - - - - - - - - 93437 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93437 - Acromesomelic dysplasia - - Clinical group - - - - - - 968 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=968 - Acromesomelic dysplasia, Hunter-Thompson type - - Malformation syndrome - - - - - - - - 40 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=40 - Acromesomelic dysplasia, Maroteaux type - - Malformation syndrome - - - - - - - - 2098 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2098 - Acromesomelic dysplasia, Grebe type - - Malformation syndrome - - - - - - - - 2496 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2496 - Mesomelia-synostoses syndrome - - Malformation syndrome - - - - - - - - 2639 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2639 - Fibular aplasia-complex brachydactyly syndrome - - Malformation syndrome - - - - - - - - 93382 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93382 - Brachydactyly type A6 - - Malformation syndrome - - - - - - - - - - 93438 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93438 - Mesomelic and rhizo-mesomelic dysplasia - - Clinical group - - - - - - 240 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=240 - Léri-Weill dyschondrosteosis - - Malformation syndrome - - - - - - - - 1453 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1453 - Cleidorhizomelic syndrome - - Malformation syndrome - - - - - - - - 1836 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1836 - Mesomelic dysplasia, Kantaputra type - - Malformation syndrome - - - - - - - - 2021 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2021 - Fibrochondrogenesis - - Disease - - - - - - - - 2497 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2497 - Upper limb mesomelic dysplasia, type Fryns - - Malformation syndrome - - - - - - - - 2631 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2631 - Mesomelic dwarfism-cleft palate-camptodactyly syndrome - - Malformation syndrome - - - - - - - - 2632 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2632 - Langer mesomelic dysplasia - - Malformation syndrome - - - - - - - - 2633 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2633 - Mesomelic dysplasia, Nievergelt type - - Malformation syndrome - - - - - - - - 2634 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2634 - Mesomelic dwarfism, Reinhardt-Pfeiffer type - - Malformation syndrome - - - - - - - - 2733 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2733 - Omodysplasia - - Malformation syndrome - - - - - - 93328 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93328 - Autosomal dominant omodysplasia - - Clinical subtype - - - - - - - - 93329 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93329 - Autosomal recessive omodysplasia - - Clinical subtype - - - - - - - - - - 3098 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3098 - Rhizomelic syndrome, Urbach type - - Malformation syndrome - - - - - - - - 2831 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2831 - Rhizomelic dysplasia, Patterson-Lowry type - - Malformation syndrome - - - - - - - - 56304 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=56304 - Atelosteogenesis type II - - Malformation syndrome - - - - - - - - 85170 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85170 - Mesomelic dysplasia, Savarirayan type - - Malformation syndrome - - - - - - - - 97360 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97360 - Robinow syndrome - - Malformation syndrome - - - - - - 1507 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1507 - Autosomal recessive Robinow syndrome - - Clinical subtype - - - - - - - - 3107 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3107 - Autosomal dominant Robinow syndrome - - Clinical subtype - - - - - - - - - - 314795 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314795 - SHOX-related short stature - - Disease - - - - - - - - 397623 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397623 - Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome - - Malformation syndrome - - - - - - - - 424099 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424099 - Colobomatous microphthalmia-rhizomelic dysplasia syndrome - - Malformation syndrome - - - - - - - - 440354 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=440354 - Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome - - Malformation syndrome - - - - - - - - 163966 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163966 - X-linked dominant chondrodysplasia, Chassaing-Lacombe type - - Disease - - - - - - - - 611223 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=611223 - EN1-related dorsoventral syndrome - - Malformation syndrome - - - - - - - - 580940 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=580940 - QRICH1-related intellectual disability-chondrodysplasia syndrome - - Malformation syndrome - - - - - - - - 632603 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=632603 - Mesomelic dysplasia-digital anomalies-intellectual disability syndrome - - Malformation syndrome - - - - - - - - - - 93439 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93439 - Campomelic dysplasia and related disorders - - Clinical group - - - - - - 656283 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=656283 - Autosomal recessive combined immunodeficiency due to complete IL6ST deficiency - - Disease - - - - - - - - 140 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140 - Campomelic dysplasia - - Malformation syndrome - - - - - - - - 1318 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1318 - Campomelia, Cumming type - - Malformation syndrome - - - - - - - - 1801 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1801 - Kyphomelic dysplasia - - Malformation syndrome - - - - - - - - 2768 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2768 - Blount disease - - Malformation syndrome - - - - - - - - 3344 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3344 - Weismann-Netter syndrome - - Malformation syndrome - - - - - - - - 3206 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3206 - Stüve-Wiedemann syndrome - - Malformation syndrome - - - - - - - - 313855 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313855 - FGFR2-related bent bone dysplasia - - Disease - - - - - - - - 324307 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324307 - Severe lateral tibial bowing-short stature-mild winged scapula-mild facial dysmorphism syndrome - - Malformation syndrome - - - - - - - - - - 93440 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93440 - Slender bone dysplasia - - Clinical group - - - - - - 2333 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2333 - Kenny-Caffey syndrome - - Malformation syndrome - - - - - - 93324 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93324 - Autosomal recessive Kenny-Caffey syndrome - - Etiological subtype - - - - - - - - 93325 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93325 - Autosomal dominant Kenny-Caffey syndrome - - Etiological subtype - - - - - - - - - - 2616 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2616 - 3M syndrome - - Malformation syndrome - - - - - - - - 2763 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2763 - Osteocraniostenosis - - Malformation syndrome - - - - - - - - 85173 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85173 - IMAGe syndrome - - Malformation syndrome - - - - - - - - 314394 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314394 - Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome - - Disease - - - - - - - - 2554 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2554 - Ear-patella-short stature syndrome - - Malformation syndrome - - - - - - - - 1506 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1506 - Thin ribs-tubular bones-dysmorphism syndrome - - Malformation syndrome - - - - - - - - 2108 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2108 - Hallermann-Streiff syndrome - - Malformation syndrome - - - - - - - - 808 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=808 - Seckel syndrome - - Malformation syndrome - - - - - - - - 2643 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2643 - Microcephalic primordial dwarfism, Toriello type - - Malformation syndrome - - - - - - - - 2637 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2637 - Microcephalic osteodysplastic primordial dwarfism type II - - Malformation syndrome - - - - - - - - 2636 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2636 - Microcephalic osteodysplastic primordial dwarfism types I and III - - Malformation syndrome - - - - - - - - 85172 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85172 - Microcephalic osteodysplastic dysplasia, Saul-Wilson type - - Disease - - - - - - - - 2109 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2109 - Hallermann-Streiff-like syndrome - - Malformation syndrome - - - - - - - - 50811 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50811 - Lipodystrophy-intellectual disability-deafness syndrome - - Disease - - - - - - - - 572761 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572761 - DONSON-related microcephaly-short stature-limb abnormalities spectrum - - Malformation syndrome - - - - - - 572768 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572768 - Microcephaly-micromelia syndrome - - Clinical subtype - - - - - - - - 572773 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572773 - Microcephaly-short stature-limb abnormalities syndrome - - Clinical subtype - - - - - - - - - - - - 93441 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93441 - Primary bone dysplasia with multiple joint dislocations - - Clinical group - - - - - - 2370 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2370 - Larsen-like osseous dysplasia-short stature syndrome - - Malformation syndrome - - - - - - - - 1190 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1190 - Atelosteogenesis type I - - Malformation syndrome - - - - - - - - 114 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=114 - Auriculoosteodysplasia - - Malformation syndrome - - - - - - - - 1263 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1263 - Boomerang dysplasia - - Disease - - - - - - - - 1425 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1425 - Desbuquois syndrome - - Malformation syndrome - - - - - - - - 1508 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1508 - Coxoauricular syndrome - - Malformation syndrome - - - - - - - - 2371 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2371 - Lethal Larsen-like syndrome - - Malformation syndrome - - - - - - - - 503 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=503 - Larsen syndrome - - Malformation syndrome - - - - - - - - 56305 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=56305 - Atelosteogenesis type III - - Malformation syndrome - - - - - - - - 85174 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85174 - Pseudodiastrophic dysplasia - - Malformation syndrome - - - - - - - - 263463 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263463 - CHST3-related skeletal dysplasia - - Disease - - - - - - - - 280586 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280586 - Chondrodysplasia with joint dislocations, gPAPP type - - Malformation syndrome - - - - - - - - 284139 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284139 - Larsen-like syndrome, B3GAT3 type - - Malformation syndrome - - - - - - - - 438117 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=438117 - Steel syndrome - - Disease - - - - - - - - 93360 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93360 - Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type - - Disease - - - - - - - - 527450 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=527450 - Severe myopia-generalized joint laxity-short stature syndrome - - Malformation syndrome - - - - - - - - 589442 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589442 - Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome - - Malformation syndrome - - - - - - - - 642099 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642099 - Spondyloepimetaphyseal dysplasia with joint laxity, Beighton type - - Disease - - - - - - - - 642085 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642085 - EXOC6B-related spondyloepimetaphyseal dysplasia with joint laxity - - Disease - - - - - - - - - - 93442 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93442 - Chondrodysplasia punctata - - Clinical group - - - - - - 1426 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1426 - Greenberg dysplasia - - Disease - - - - - - - - 139 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139 - CHILD syndrome - - Disease - - - - - - - - 177 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=177 - Rhizomelic chondrodysplasia punctata - - Disease - - - - - - 309803 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309803 - Rhizomelic chondrodysplasia punctata type 3 - - Etiological subtype - - - - - - - - 309789 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309789 - Rhizomelic chondrodysplasia punctata type 1 - - Etiological subtype - - - - - - - - 309796 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309796 - Rhizomelic chondrodysplasia punctata type 2 - - Etiological subtype - - - - - - - - 468717 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=468717 - Rhizomelic chondrodysplasia punctata type 5 - - Etiological subtype - - - - - - - - - - 176 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=176 - Non-rhizomelic chondrodysplasia punctata - - Clinical group - - - - - - 35173 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35173 - X-linked dominant chondrodysplasia punctata - - Disease - - - - - - - - 79345 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79345 - Brachytelephalangic chondrodysplasia punctata - - Malformation syndrome - - - - - - - - 79346 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79346 - Chondrodysplasia punctata, tibial-metacarpal type - - Malformation syndrome - - - - - - - - 79347 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79347 - Chondrodysplasia punctata, Toriello type - - Malformation syndrome - - - - - - - - - - 85175 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85175 - Astley-Kendall dysplasia - - Malformation syndrome - - - - - - - - 85202 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85202 - Keutel syndrome - - Malformation syndrome - - - - - - - - - - 93444 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93444 - Primary bone dysplasia with increased bone density - - Category - - - - - - 2801 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2801 - Juvenile Paget disease - - Malformation syndrome - - - - - - - - 1328 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1328 - Camurati-Engelmann disease - - Malformation syndrome - - - - - - - - 1513 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1513 - Craniodiaphyseal dysplasia - - Malformation syndrome - - - - - - - - 1522 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1522 - Craniometaphyseal dysplasia - - Malformation syndrome - - - - - - - - 1798 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1798 - Craniofacial dysostosis-diaphyseal hyperplasia syndrome - - Malformation syndrome - - - - - - - - 1802 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1802 - Ghosal hematodiaphyseal dysplasia - - Malformation syndrome - - - - - - - - 2658 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2658 - Lenz-Majewski hyperostotic dwarfism - - Malformation syndrome - - - - - - - - 2710 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2710 - Oculodentodigital dysplasia - - Malformation syndrome - - - - - - - - 2779 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2779 - Osteopathia striata-pigmentary dermopathy-white forelock syndrome - - Malformation syndrome - - - - - - - - 2790 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2790 - Endosteal hyperostosis, Worth type - - Malformation syndrome - - - - - - - - 3005 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3005 - Pyle disease - - Disease - - - - - - - - 3152 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3152 - Sclerosteosis - - Malformation syndrome - - - - - - - - 3352 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3352 - Tricho-dento-osseous syndrome - - Malformation syndrome - - - - - - - - 3416 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3416 - Hyperostosis corticalis generalisata - - Malformation syndrome - - - - - - - - 646139 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=646139 - Dysplastic cortical hyperostosis - - Malformation syndrome - - - - - - 2204 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2204 - Dysplastic cortical hyperostosis, Kozlowski-Tsuruta type - - Clinical subtype - - - - - - - - 646136 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=646136 - Dysplastic cortical hyperostosis, Al-Gazali type - - Clinical subtype - - - - - - - - - - 2781 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2781 - Osteopetrosis and related disorders - - Clinical group - - - - - - 94063 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94063 - 12q14 microdeletion syndrome - - Malformation syndrome - - - - - - - - 166119 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166119 - Isolated osteopoikilosis - - Disease - - - - - - - - 178389 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178389 - Osteopetrosis-hypogammaglobulinemia syndrome - - Disease - - - - - - - - 210110 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210110 - Intermediate osteopetrosis - - Malformation syndrome - - - - - - - - 53 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53 - Albers-Schönberg osteopetrosis - - Malformation syndrome - - - - - - - - 2785 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2785 - Osteopetrosis with renal tubular acidosis - - Disease - - - - - - - - 763 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=763 - Pycnodysostosis - - Disease - - - - - - - - 1782 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1782 - Dysosteosclerosis - - Malformation syndrome - - - - - - - - 1879 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1879 - Melorheostosis with osteopoikilosis - - Malformation syndrome - - - - - - - - 2485 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2485 - Melorheostosis - - Malformation syndrome - - - - - - - - 2777 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2777 - Osteomesopyknosis - - Malformation syndrome - - - - - - - - 2780 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2780 - Osteopathia striata-cranial sclerosis syndrome - - Malformation syndrome - - - - - - - - 667 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=667 - Autosomal recessive malignant osteopetrosis - - Malformation syndrome - - - - - - - - 2783 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2783 - Autosomal dominant osteopetrosis type 1 - - Malformation syndrome - - - - - - - - 69088 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69088 - Hypohidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome - - Disease - - - - - - - - 85179 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85179 - Infantile osteopetrosis with neuroaxonal dysplasia - - Malformation syndrome - - - - - - - - 99844 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99844 - Leukocyte adhesion deficiency type III - - Clinical subtype - - - - - - - - 500548 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500548 - Osteosclerotic metaphyseal dysplasia - - Malformation syndrome - - - - - - - - 556985 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=556985 - Early-onset calcifying leukoencephalopathy-skeletal dysplasia - - Disease - - - - - - - - 603494 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=603494 - Coloboma-osteopetrosis-microphthalmia-macrocephaly-albinism-deafness syndrome - - Malformation syndrome - - - - - - - - - - 75325 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75325 - Osteosclerosis-ichthyosis-premature ovarian failure syndrome - - Disease - - - - - - - - 85182 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85182 - Diaphyseal medullary stenosis-bone malignancy syndrome - - Disease - - - - - - - - 85184 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85184 - Craniometadiaphyseal dysplasia, wormian bone type - - Malformation syndrome - - - - - - - - 85186 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85186 - Endosteal sclerosis-cerebellar hypoplasia syndrome - - Malformation syndrome - - - - - - - - 85188 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85188 - Metaphyseal dysplasia, Braun-Tinschert type - - Malformation syndrome - - - - - - - - 93443 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93443 - Neonatal osteosclerotic dysplasia - - Clinical group - - - - - - 1310 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1310 - Caffey disease - - Malformation syndrome - - - - - - - - 1832 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1832 - Osteosclerotic bone dysplasia - - Malformation syndrome - - - - - - - - 35107 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35107 - Desmosterolosis - - Disease - - - - - - - - 50945 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50945 - Blomstrand lethal chondrodysplasia - - Malformation syndrome - - - - - - - - - - 248095 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=248095 - Primary hypertrophic osteoarthropathy - - Clinical group - - - - - - 1525 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1525 - Cranio-osteoarthropathy - - Malformation syndrome - - - - - - - - 2796 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2796 - Pachydermoperiostosis - - Malformation syndrome - - - - - - - - - - 314029 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314029 - High bone mass osteogenesis imperfecta - - Disease - - - - - - - - 324364 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324364 - Mixed sclerosing bone dystrophy with extra-skeletal manifestations - - Disease - - - - - - - - 391327 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391327 - X-linked calvarial hyperostosis - - Disease - - - - - - - - 443098 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443098 - Hyperostosis cranialis interna - - Disease - - - - - - - - - - 93446 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93446 - Primary bone dysplasia with decreased bone density - - Category - - - - - - 2771 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2771 - Bruck syndrome - - Malformation syndrome - - - - - - - - 2772 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2772 - Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome - - Malformation syndrome - - - - - - - - 2773 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2773 - Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome - - Malformation syndrome - - - - - - - - 666 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=666 - Osteogenesis imperfecta - - Disease - - - - - - 216796 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216796 - Osteogenesis imperfecta type 1 - - Clinical subtype - - - - - - - - 216804 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216804 - Osteogenesis imperfecta type 2 - - Clinical subtype - - - - - - - - 216812 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216812 - Osteogenesis imperfecta type 3 - - Clinical subtype - - - - - - - - 216820 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216820 - Osteogenesis imperfecta type 4 - - Clinical subtype - - - - - - - - 216828 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216828 - Osteogenesis imperfecta type 5 - - Clinical subtype - - - - - - - - - - 2050 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2050 - Cole-Carpenter syndrome - - Malformation syndrome - - - - - - - - 2078 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2078 - Geroderma osteodysplastica - - Malformation syndrome - - - - - - - - 2097 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2097 - Grant syndrome - - Malformation syndrome - - - - - - - - 2324 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2324 - Osteopenia-intellectual disability-sparse hair syndrome - - Malformation syndrome - - - - - - - - 2786 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2786 - Osteoporosis-oculocutaneous hypopigmentation syndrome - - Malformation syndrome - - - - - - - - 2788 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2788 - Osteoporosis-pseudoglioma syndrome - - Disease - - - - - - - - 457378 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457378 - Complex lethal osteochondrodysplasia - - Malformation syndrome - - - - - - - - 53697 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53697 - Gnathodiaphyseal dysplasia - - Malformation syndrome - - - - - - - - 85191 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85191 - Singleton-Merten dysplasia - - Malformation syndrome - - - - - - - - 85192 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85192 - Calvarial doughnut lesions-bone fragility syndrome - - Malformation syndrome - - - - - - - - 85193 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85193 - Idiopathic juvenile osteoporosis - - Malformation syndrome - - - - - - - - 85194 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85194 - Spondylo-ocular syndrome - - Malformation syndrome - - - - - - - - 90350 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90350 - Autosomal recessive cutis laxa type 2 - - Clinical group - - - - - - 357058 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357058 - Autosomal recessive cutis laxa type 2A - - Disease - - - - - - 2834 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2834 - Wrinkly skin syndrome - - Clinical subtype - - - - - - - - 357074 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357074 - Autosomal recessive cutis laxa type 2, classic type - - Clinical subtype - - - - - - - - - - 357064 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=357064 - Autosomal recessive cutis laxa type 2B - - Disease - - - - - - - - - - 166277 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166277 - Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia - - Malformation syndrome - - - - - - - - 230857 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=230857 - Ehlers-Danlos/osteogenesis imperfecta syndrome - - Disease - - - - - - - - 314667 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314667 - TMEM165-CDG - - Disease - - - - - - - - 319195 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319195 - Chondroectodermal dysplasia with night blindness - - Disease - - - - - - - - 391330 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391330 - X-linked osteoporosis with fractures - - Disease - - - - - - - - 498481 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498481 - LRP5-related primary osteoporosis - - Malformation syndrome - - - - - - - - 536467 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=536467 - B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome - - Clinical subtype - - - - - - - - 536532 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=536532 - Classical-like Ehlers-Danlos syndrome type 2 - - Disease - - - - - - - - - - 93447 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93447 - Primary bone dysplasia with defective bone mineralization - - Category - - - - - - 557003 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=557003 - Oculoskeletodental syndrome - - Disease - - - - - - - - 436 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436 - Hypophosphatasia - - Disease - - - - - - 247623 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247623 - Perinatal lethal hypophosphatasia - - Clinical subtype - - - - - - - - 247638 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247638 - Prenatal benign hypophosphatasia - - Clinical subtype - - - - - - - - 247651 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247651 - Infantile hypophosphatasia - - Clinical subtype - - - - - - - - 247667 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247667 - Childhood-onset hypophosphatasia - - Clinical subtype - - - - - - - - 247676 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247676 - Adult hypophosphatasia - - Clinical subtype - - - - - - - - 247685 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247685 - Odontohypophosphatasia - - Clinical subtype - - - - - - - - - - 417 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=417 - Neonatal severe primary hyperparathyroidism - - Disease - - - - - - - - 405 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=405 - Familial hypocalciuric hypercalcemia - - Disease - - - - - - 93372 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93372 - Familial hypocalciuric hypercalcemia type 1 - - Etiological subtype - - - - - - - - 101049 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101049 - Familial hypocalciuric hypercalcemia type 2 - - Etiological subtype - - - - - - - - 101050 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101050 - Familial hypocalciuric hypercalcemia type 3 - - Etiological subtype - - - - - - - - - - 50811 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50811 - Lipodystrophy-intellectual disability-deafness syndrome - - Disease - - - - - - - - 73230 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73230 - Ossification anomalies-psychomotor developmental delay syndrome - - Disease - - - - - - - - 79106 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79106 - Eiken syndrome - - Malformation syndrome - - - - - - - - 289098 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289098 - Disorders of vitamin D metabolism - - Category - - - - - - 437 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=437 - Hypophosphatemic rickets - - Clinical group - - - - - - 1652 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1652 - Dent disease - - Disease - - - - - - 93622 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93622 - Dent disease type 1 - - Clinical subtype - - - - - - - - 93623 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93623 - Dent disease type 2 - - Clinical subtype - - - - - - - - - - 213 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=213 - Cystinosis - - Disease - - - - - - 411629 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411629 - Infantile nephropathic cystinosis - - Clinical subtype - - - - - - - - 411634 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411634 - Juvenile nephropathic cystinosis - - Clinical subtype - - - - - - - - 411641 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411641 - Ocular cystinosis - - Clinical subtype - - - - - - - - - - 244305 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=244305 - Dominant hypophosphatemia with nephrolithiasis or osteoporosis - - Disease - - - - - - - - 89936 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=89936 - X-linked hypophosphatemia - - Disease - - - - - - - - 89937 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=89937 - Autosomal dominant hypophosphatemic rickets - - Disease - - - - - - - - 157215 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157215 - Hereditary hypophosphatemic rickets with hypercalciuria - - Disease - - - - - - - - 289176 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289176 - Autosomal recessive hypophosphatemic rickets - - Disease - - - -