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_147.xml b/Rare diseases and classifications/Classifications of rare diseases/en_product3_147.xml index 9ea3429..a9f05c3 100755 --- a/Rare diseases and classifications/Classifications of rare diseases/en_product3_147.xml +++ b/Rare diseases and classifications/Classifications of rare diseases/en_product3_147.xml @@ -1,77166 +1,77934 @@ - - - - - Creative Commons Attribution 4.0 International - CC-BY-4.0 - https://creativecommons.org/licenses/by/4.0/legalcode - - - - - 156268 - Orphanet classification of rare developmental anomalies during embryogenesis - - - - 93890 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93890 - Rare developmental defect during embryogenesis - - Category - - - - - - 1041 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1041 - Hydrops fetalis - - Malformation syndrome - - - - - - 363999 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363999 - Non-immune hydrops fetalis - - Clinical subtype - - - - - - - - 364013 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=364013 - Immune hydrops fetalis - - Clinical subtype - - - - - - - - - - 93545 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93545 - Renal or urinary tract malformation - - Category - - - - - - 93546 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93546 - 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 - - - - - - - - - - 3033 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3033 - Renal tubular dysgenesis - - Malformation syndrome - - - - - - 97367 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97367 - Renal tubular dysgenesis due to twin-twin transfusion - - Etiological subtype - - - - - - - - 97368 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97368 - Drug-related renal tubular dysgenesis - - Etiological subtype - - - - - - - - 97369 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97369 - Renal tubular dysgenesis of genetic origin - - Etiological subtype - - - - - - - - - - 1309 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1309 - Medullary sponge kidney - - Morphological anomaly - - - - - - - - 2260 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2260 - Oligomeganephronia - - 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 - - - - - - - - - - 93109 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93109 - Congenital megacalycosis - - Morphological anomaly - - - - - - 93176 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93176 - Unilateral congenital megacalycosis - - Clinical subtype - - - - - - - - 93177 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93177 - Congenital bilateral megacalycosis - - Clinical subtype - - - - - - - - - - 238637 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238637 - Megacystis-megaureter syndrome - - Disease - - - - - - - - 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 - - - - - - - - - - 435743 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435743 - Congenital urachal anomaly - - Category - - - - - - 488 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488 - Urachal cyst - - Morphological anomaly - - - - - - - - 431341 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=431341 - Patent urachus - - Morphological anomaly - - - - - - - - 431344 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=431344 - Urachal sinus - - Morphological anomaly - - - - - - - - 431347 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=431347 - Urachal diverticulum - - Morphological anomaly - - - - - - - - - - 289365 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289365 - Familial vesicoureteral reflux - - Malformation syndrome - - - - - - - - 652528 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=652528 - Non-syndromic supernumerary kidneys - - Morphological anomaly - - - - - - - - - - 93547 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93547 - Syndromic renal or urinary 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 - - - - - - - - 567 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=567 - 22q11.2 deletion 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 - - - - - - - - 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 - - - - - - - - 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 - - - - - - - - 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 - - - - - - - - 3411 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3411 - Double uterus-hemivagina-renal agenesis syndrome - - Malformation syndrome - - - - - - - - 818 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=818 - Smith-Lemli-Opitz 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 - - - - - - - - 439897 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439897 - Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia 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 - - - - - - - - 2111 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2111 - Cystic hamartoma of lung and kidney - - Disease - - - - - - - - 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 - - - - - - - - 71273 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71273 - Renal nutcracker syndrome - - Disease - - - - - - - - 2838 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2838 - Renal caliceal diverticuli-deafness 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 - - - - - - - - 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 - - - - - - - - 521438 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521438 - Congenital vertebral-cardiac-renal anomalies syndrome - - Malformation syndrome - - - - - - - - 3032 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3032 - NPHP3-related Meckel-like 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 - - - - - - - - - - - - 97965 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97965 - Rare surgical cardiac disease - - Category - - - - - - 88991 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88991 - Rare congenital non-syndromic heart malformation - - Category - - - - - - 474347 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=474347 - Rare congenital anomaly of ventricular septum - - Clinical group - - - - - - 99094 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99094 - Laubry-Pezzi syndrome - - Morphological anomaly - - - - - - - - 99092 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99092 - Interventricular septum aneurysm - - Morphological anomaly - - - - - - - - - - 99095 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99095 - Congenital Gerbode defect - - Morphological anomaly - - - - - - - - 2846 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2846 - Congenital pericardium anomaly - - Category - - - - - - 99129 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99129 - Congenital complete agenesis of pericardium - - Morphological anomaly - - - - - - - - 99130 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99130 - Congenital partial agenesis of pericardium - - Morphological anomaly - - - - - - - - 99131 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99131 - Pleuro-pericardial cyst - - Morphological anomaly - - - - - - - - - - 1081 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1081 - Coronary artery congenital malformation - - Category - - - - - - 2041 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2041 - Coronary arterial fistula - - Morphological anomaly - - - - - - - - 95491 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95491 - Congenital coronary artery aneurysm - - Morphological anomaly - - - - - - - - 541478 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=541478 - Anomalous aortic origin of coronary artery - - Clinical group - - - - - - 541443 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=541443 - Anomalous aortic origin of the left coronary artery - - Morphological anomaly - - - - - - - - 541454 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=541454 - Anomalous aortic origin of the right coronary artery - - Morphological anomaly - - - - - - - - - - 541507 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=541507 - Anomalous origin of coronary artery from the pulmonary artery - - Morphological anomaly - - - - - - - - 542822 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=542822 - Anomaly of the coronary ostia - - Clinical group - - - - - - 99087 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99087 - Coronary ostial stenosis or atresia - - Morphological anomaly - - - - - - - - 99089 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99089 - Abnormal number of coronary ostia - - Morphological anomaly - - - - - - - - 99090 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99090 - Malposition of a coronary ostium - - Morphological anomaly - - - - - - - - - - - - 1686 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1686 - Cardiac diverticulum - - Morphological anomaly - - - - - - - - 1461 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1461 - Criss-cross heart - - Morphological anomaly - - - - - - - - 95483 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95483 - Univentricular cardiopathy - - Category - - - - - - 2248 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2248 - Hypoplastic left heart syndrome - - Morphological anomaly - - - - - - - - 1464 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1464 - Univentricular heart - - Morphological anomaly - - - - - - - - 98723 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98723 - Hypoplastic right heart syndrome - - Clinical group - - - - - - 1208 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1208 - Pulmonary atresia-intact ventricular septum syndrome - - Morphological anomaly - - - - - - - - 439 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439 - Isolated right ventricular hypoplasia - - Morphological anomaly - - - - - - - - - - - - 98716 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98716 - Heart position anomaly - - Category - - - - - - 450 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=450 - Heterotaxia - - Category - - - - - - 1666 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1666 - Dextrocardia - - Morphological anomaly - - - - - - - - 95854 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95854 - Levocardia - - Morphological anomaly - - - - - - - - 97548 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97548 - Right sided atrial isomerism - - Malformation syndrome - - - - - - - - 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 - - - - - - - - 566862 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=566862 - Left sided atrial isomerism - - Malformation syndrome - - - - - - - - - - 95443 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95443 - Mesocardia - - Morphological anomaly - - - - - - - - - - 98717 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98717 - Transposition of the great arteries and conotruncal cardiac anomaly - - Category - - - - - - 2445 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2445 - Conotruncal heart malformations - - Category - - - - - - 3303 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3303 - Tetralogy of Fallot - - Malformation syndrome - - - - - - - - 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 - - - - - - - - - - 982 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=982 - Pulmonary valve agenesis - - Clinical group - - - - - - 99048 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99048 - Pulmonary valve agenesis-intact ventricular septum-persistent ductus arteriosus syndrome - - Malformation syndrome - - - - - - - - 101206 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101206 - Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome - - Malformation syndrome - - - - - - - - - - 1138 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1138 - Abnormal origin of the pulmonary artery - - Clinical group - - - - - - 658574 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=658574 - Isolated pulmonary artery sling - - Morphological anomaly - - - - - - - - 99049 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99049 - Pulmonary artery coming from patent ductus arteriosus - - Morphological anomaly - - - - - - - - 99050 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99050 - Abnormal origin of right or left pulmonary artery from the aorta - - Morphological anomaly - - - - - - - - - - 1207 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1207 - Pulmonary atresia with ventricular septal defect - - Morphological anomaly - - - - - - - - 2037 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2037 - Congenital aortopulmonary window - - Morphological anomaly - - - - - - - - 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 - - - - - - - - - - 3427 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3427 - Double outlet left ventricle - - Morphological anomaly - - - - - - - - - - 98718 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98718 - Aortic malformation - - Category - - - - - - 3193 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3193 - Supravalvular aortic stenosis - - Morphological anomaly - - - - - - - - 1457 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1457 - Aorta coarctation - - Morphological anomaly - - - - - - - - 2299 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2299 - Aortic arch interruption - - Morphological anomaly - - - - - - - - 3092 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3092 - Fixed subaortic stenosis - - Morphological anomaly - - - - - - 99051 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99051 - Discrete fixed membranous subaortic stenosis - - Clinical subtype - - - - - - - - 99052 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99052 - Discrete fibromuscular subaortic stenosis - - Clinical subtype - - - - - - - - 99053 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99053 - Tunnel subaortic stenosis - - Clinical subtype - - - - - - - - - - 3093 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3093 - Congenital aortic valve stenosis - - Morphological anomaly - - - - - - 95448 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95448 - Congenital aortic valve atresia - - Clinical subtype - - - - - - - - 101043 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101043 - Congenital aortic valve dysplasia - - Clinical subtype - - - - - - - - - - 402075 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=402075 - Familial bicuspid aortic valve - - Morphological anomaly - - - - - - - - 1456 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1456 - Middle aortic syndrome - - Morphological anomaly - - - - - - - - 542568 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=542568 - Quadricuspid aortic valve - - Morphological anomaly - - - - - - - - - - 98719 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98719 - Pulmonary artery or pulmonary branch anomaly - - Category - - - - - - 1208 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1208 - Pulmonary atresia-intact ventricular septum syndrome - - Morphological anomaly - - - - - - - - 982 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=982 - Pulmonary valve agenesis - - Clinical group - - - - - - 99048 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99048 - Pulmonary valve agenesis-intact ventricular septum-persistent ductus arteriosus syndrome - - Malformation syndrome - - - - - - - - 101206 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101206 - Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome - - Malformation syndrome - - - - - - - - - - 980 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=980 - Absence of the pulmonary artery - - Morphological anomaly - - - - - - - - 3189 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3189 - Congenital pulmonary valvar stenosis - - Morphological anomaly - - - - - - 3190 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3190 - Subpulmonary stenosis - - Clinical subtype - - - - - - - - 3192 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3192 - Supravalvular pulmonary stenosis - - Clinical subtype - - - - - - - - 99054 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99054 - Valvular pulmonary stenosis - - Clinical subtype - - - - - - - - - - 1676 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1676 - Idiopathic pulmonary artery dilatation - - Disease - - - - - - - - 99083 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99083 - Pulmonary artery hypoplasia - - Morphological anomaly - - - - - - - - 99084 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99084 - Peripheral pulmonary stenosis - - Morphological anomaly - - - - - - - - - - 216675 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216675 - Transposition of the great arteries - - Category - - - - - - 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 - - - - - - - - - - 216694 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216694 - Congenitally corrected transposition of the great arteries - - Morphological anomaly - - - - - - - - - - - - 98720 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98720 - Atrioventricular valve anomaly - - Category - - - - - - 2447 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2447 - Congenital mitral malformation - - Category - - - - - - 95464 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95464 - Congenital mitral valve insufficiency and/or stenosis - - Category - - - - - - 741 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=741 - Familial mitral valve prolapse - - Morphological anomaly - - - - - - - - 1205 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1205 - Mitral atresia - - Morphological anomaly - - - - - - - - 99057 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99057 - Congenital mitral stenosis - - Morphological anomaly - - - - - - - - 99058 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99058 - Hypoplasia of the mitral valve annulus - - Morphological anomaly - - - - - - - - 99059 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99059 - Congenital supravalvular mitral ring - - Morphological anomaly - - - - - - - - 99060 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99060 - Congenital unguarded mitral orifice - - Morphological anomaly - - - - - - - - 99061 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99061 - Accessory mitral valve tissue - - Morphological anomaly - - - - - - - - 99062 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99062 - Mitral valve agenesis - - Morphological anomaly - - - - - - - - 99063 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99063 - Shone complex - - Malformation syndrome - - - - - - - - 101932 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101932 - Anomaly of the mitral subvalvular apparatus - - Morphological anomaly - - - - - - - - - - 95465 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95465 - Cleft mitral valve - - Morphological anomaly - - - - - - 95474 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95474 - Double-orifice mitral valve - - Clinical subtype - - - - - - - - 99064 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99064 - Straddling and/or overriding mitral valve - - Clinical subtype - - - - - - - - - - - - 98721 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98721 - Congenital tricuspid malformation - - Category - - - - - - 95459 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95459 - Congenital tricuspid stenosis - - Morphological anomaly - - - - - - - - 95461 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95461 - Straddling or overriding tricuspid valve - - Morphological anomaly - - - - - - - - 95462 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95462 - Accessory tricuspid valve tissue - - Morphological anomaly - - - - - - - - 95463 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95463 - Anomaly of the tricuspid subvalvular apparatus - - Category - - - - - - 99055 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99055 - Congenital anomaly of the tricuspid valve chordae - - Morphological anomaly - - - - - - - - 99056 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99056 - Parachute tricuspid valve - - Morphological anomaly - - - - - - - - - - 555874 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=555874 - Congenital tricuspid valve 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 - - - - - - - - 1209 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1209 - Tricuspid atresia - - Morphological anomaly - - - - - - - - 95457 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95457 - Tricuspid valve agenesis - - Morphological anomaly - - - - - - - - - - 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 - - - - - - 576227 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=576227 - Complete atrioventricular septal defect without ventricular hypoplasia - - 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 - - - - - - - - 99068 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99068 - Complete atrioventricular septal defect-tetralogy of Fallot - - Clinical subtype - - - - - - - - - - 1330 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1330 - Partial atrioventricular septal defect - - Morphological anomaly - - - - - - 576232 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=576232 - Partial atrioventricular septal defect with ventricular hypoplasia - - Clinical subtype - - - - - - - - 576235 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=576235 - Partial atrioventricular septal defect without 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 - - - - - - - - - - 555877 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=555877 - FLNA-related X-linked myxomatous valvular dysplasia - - Morphological anomaly - - - - - - - - - - 98724 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98724 - Congenital anomaly of the great arteries - - Category - - - - - - 1132 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1132 - Aortic arch defects - - Category - - - - - - 99075 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99075 - Encircling double aortic arch - - Morphological anomaly - - - - - - - - 99076 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99076 - Persistent fifth aortic arch - - Morphological anomaly - - - - - - - - 99077 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99077 - Kommerell diverticulum - - Morphological anomaly - - - - - - - - 99078 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99078 - Neuhauser anomaly - - Morphological anomaly - - - - - - - - 99079 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99079 - Cervical aortic arch - - Morphological anomaly - - - - - - - - 99081 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99081 - Right aortic arch - - Morphological anomaly - - - - - - - - 99082 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99082 - Dysphagia lusoria - - Morphological anomaly - - - - - - - - - - 185 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=185 - Scimitar syndrome - - Malformation syndrome - - - - - - - - 95485 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95485 - Arterial duct anomaly - - Category - - - - - - 95486 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95486 - Premature closure of the arterial duct - - Morphological anomaly - - - - - - - - 99072 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99072 - Congenital patent ductus arteriosus aneurysm - - Morphological anomaly - - - - - - - - 466729 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466729 - Familial patent arterial duct - - Morphological anomaly - - - - - - - - - - 98718 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98718 - Aortic malformation - - Category - - - - - - 3193 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3193 - Supravalvular aortic stenosis - - Morphological anomaly - - - - - - - - 1457 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1457 - Aorta coarctation - - Morphological anomaly - - - - - - - - 2299 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2299 - Aortic arch interruption - - Morphological anomaly - - - - - - - - 3092 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3092 - Fixed subaortic stenosis - - Morphological anomaly - - - - - - 99051 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99051 - Discrete fixed membranous subaortic stenosis - - Clinical subtype - - - - - - - - 99052 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99052 - Discrete fibromuscular subaortic stenosis - - Clinical subtype - - - - - - - - 99053 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99053 - Tunnel subaortic stenosis - - Clinical subtype - - - - - - - - - - 3093 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3093 - Congenital aortic valve stenosis - - Morphological anomaly - - - - - - 95448 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95448 - Congenital aortic valve atresia - - Clinical subtype - - - - - - - - 101043 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101043 - Congenital aortic valve dysplasia - - Clinical subtype - - - - - - - - - - 402075 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=402075 - Familial bicuspid aortic valve - - Morphological anomaly - - - - - - - - 1456 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1456 - Middle aortic syndrome - - Morphological anomaly - - - - - - - - 542568 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=542568 - Quadricuspid aortic valve - - Morphological anomaly - - - - - - - - - - 98719 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98719 - Pulmonary artery or pulmonary branch anomaly - - Category - - - - - - 1208 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1208 - Pulmonary atresia-intact ventricular septum syndrome - - Morphological anomaly - - - - - - - - 982 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=982 - Pulmonary valve agenesis - - Clinical group - - - - - - 99048 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99048 - Pulmonary valve agenesis-intact ventricular septum-persistent ductus arteriosus syndrome - - Malformation syndrome - - - - - - - - 101206 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101206 - Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome - - Malformation syndrome - - - - - - - - - - 980 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=980 - Absence of the pulmonary artery - - Morphological anomaly - - - - - - - - 3189 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3189 - Congenital pulmonary valvar stenosis - - Morphological anomaly - - - - - - 3190 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3190 - Subpulmonary stenosis - - Clinical subtype - - - - - - - - 3192 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3192 - Supravalvular pulmonary stenosis - - Clinical subtype - - - - - - - - 99054 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99054 - Valvular pulmonary stenosis - - Clinical subtype - - - - - - - - - - 1676 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1676 - Idiopathic pulmonary artery dilatation - - Disease - - - - - - - - 99083 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99083 - Pulmonary artery hypoplasia - - Morphological anomaly - - - - - - - - 99084 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99084 - Peripheral pulmonary stenosis - - Morphological anomaly - - - - - - - - - - 98725 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98725 - Ascending aorta anomaly - - Category - - - - - - 1054 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1054 - Aneurysm of sinus of Valsalva - - Morphological anomaly - - - - - - - - 3093 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3093 - Congenital aortic valve stenosis - - Morphological anomaly - - - - - - 95448 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95448 - Congenital aortic valve atresia - - Clinical subtype - - - - - - - - 101043 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101043 - Congenital aortic valve dysplasia - - Clinical subtype - - - - - - - - - - 3400 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3400 - Aorto-ventricular tunnel - - Morphological anomaly - - - - - - 99070 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99070 - Aorto-right ventricular tunnel - - Clinical subtype - - - - - - - - 99071 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99071 - Aorto-left ventricular tunnel - - Clinical subtype - - - - - - - - - - - - - - 98727 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98727 - Rare atrial defect and interatrial communication - - 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 - - - - - - - - - - 1463 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1463 - Triatrial heart - - Clinical group - - - - - - 99098 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99098 - Cor triatriatum dexter - - Morphological anomaly - - - - - - - - 99099 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99099 - Cor triatriatum sinister - - Morphological anomaly - - - - - - - - - - 1677 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1677 - Familial idiopathic dilatation of the right atrium - - Morphological anomaly - - - - - - - - 95510 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95510 - Atrial appendage anomaly - - Category - - - - - - 99100 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99100 - Juxtaposition of the atrial appendages - - Morphological anomaly - - - - - - - - 99101 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99101 - Ectasia of the right atrial appendage - - Morphological anomaly - - - - - - - - 99102 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99102 - Ectasia of the left atrial appendage - - Morphological anomaly - - - - - - - - - - 99107 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99107 - Atrial septal aneurysm - - Morphological anomaly - - - - - - - - 568065 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=568065 - EPHB4-related lymphatic-related hydrops fetalis - - Disease - - - - - - - - - - 363189 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363189 - Congenital anomaly of the great veins - - Category - - - - - - 3091 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3091 - Congenital systemic veins anomaly - - Category - - - - - - 95498 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95498 - Congenital anomaly of superior vena cava - - Category - - - - - - 652668 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=652668 - Primary superior vena cava aneurysm - - Malformation syndrome - - - - - - - - 99109 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99109 - Persistent left superior vena cava connecting through coronary sinus to left-sided atrium - - Morphological anomaly - - - - - - - - 99110 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99110 - Right superior vena cava connecting to left-sided atrium - - Morphological anomaly - - - - - - - - 99111 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99111 - Persistent left superior vena cava connecting to the roof of left-sided atrium - - Morphological anomaly - - - - - - - - 99112 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99112 - Absence of innominate vein - - Morphological anomaly - - - - - - - - 99113 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99113 - Subaortic course of innominate vein - - Morphological anomaly - - - - - - - - 99114 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99114 - Agenesis of the superior vena cava - - Morphological anomaly - - - - - - - - - - 95499 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95499 - Congenital anomaly of the inferior vena cava - - Category - - - - - - 652678 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=652678 - Primary inferior vena cava aneurysm - - Morphological anomaly - - - - - - - - 99119 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99119 - Right inferior vena cava connecting to left-sided atrium - - Morphological anomaly - - - - - - - - 99120 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99120 - Persistent eustachian valve - - Morphological anomaly - - - - - - - - 99121 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99121 - Azygos continuation of the inferior vena cava - - Morphological anomaly - - - - - - - - 99122 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99122 - Congenital stenosis of the inferior vena cava - - Morphological anomaly - - - - - - - - 99123 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99123 - Inferior vena cava interruption without azygos continuation - - Morphological anomaly - - - - - - - - - - 95500 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95500 - Congenital anomaly of the coronary sinus - - Category - - - - - - 99117 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99117 - Coronary sinus stenosis - - Morphological anomaly - - - - - - - - 99118 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99118 - Coronary sinus atresia - - Morphological anomaly - - - - - - - - - - 95507 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95507 - Congenital anomaly of hepatic vein - - Morphological anomaly - - - - - - - - 480531 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480531 - Congenital portosystemic shunt - - Morphological anomaly - - - - - - - - - - 98729 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98729 - Congenital pulmonary veins anomaly - - Category - - - - - - 3090 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3090 - Congenital pulmonary venous return anomaly - - Clinical group - - - - - - 99124 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99124 - Congenital partial pulmonary venous return anomaly - - Morphological anomaly - - - - - - - - 99125 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99125 - Congenital total pulmonary venous return anomaly - - Morphological anomaly - - - - - - - - - - 185 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=185 - Scimitar syndrome - - Malformation syndrome - - - - - - - - 3188 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3188 - Congenital pulmonary veins atresia or stenosis - - Clinical group - - - - - - 99126 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99126 - Congenital pulmonary vein atresia - - Morphological anomaly - - - - - - - - 642071 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642071 - Primary pulmonary vein stenosis - - Disease - - - - - - - - - - - - - - 448270 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=448270 - Ectopia cordis - - Morphological anomaly - - - - - - - - 1055 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1055 - Congenital left ventricular aneurysm - - Malformation syndrome - - - - - - - - - - 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 - - - - - - - - 2475 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2475 - White forelock with malformations - - 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 - - - - - - - - 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 - - - - - - - - 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 - - - - - - - - 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 - - - - - - - - - - 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 - - - - - - - - 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 - - - - - - - - 521438 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521438 - Congenital vertebral-cardiac-renal anomalies 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 - - - - - - - - - - - - 98038 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98038 - Cranial malformation - - Category - - - - - - 97340 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97340 - Hunter-McAlpine syndrome - - Malformation syndrome - - - - - - - - 2050 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2050 - Cole-Carpenter syndrome - - 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 - - - - - - - - 293843 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293843 - 3MC syndrome - - Malformation syndrome - - - - - - - - 79213 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79213 - Mucopolysaccharidosis - - Category - - - - - - 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 - - - - - - 309310 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309310 - Mucopolysaccharidosis type 4B - - Clinical subtype - - - - - - - - 309297 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309297 - Mucopolysaccharidosis type 4A - - Clinical subtype - - - - - - - - - - 67041 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=67041 - Hyaluronidase deficiency - - Disease - - - - - - - - 662216 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662216 - Mucopolysaccharidosis type 10 - - Disease - - - - - - - - - - 648 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=648 - Noonan syndrome - - Malformation syndrome - - - - - - - - 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 - - - - - - - - 65759 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65759 - Carpenter 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 - - - - - - - - - - - - 945 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=945 - Acalvaria - - Malformation syndrome - - - - - - - - 1513 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1513 - Craniodiaphyseal dysplasia - - 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 - - - - - - - - 251290 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251290 - Parietal foramina with clavicular hypoplasia - - Malformation syndrome - - - - - - - - 1114 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1114 - Aplasia cutis congenita - - Malformation syndrome - - - - - - - - 974 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=974 - Adams-Oliver syndrome - - Malformation syndrome - - - - - - - - 1522 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1522 - Craniometaphyseal 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 - - - - - - - - - - 98039 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98039 - 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 - - - - - - 93938 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93938 - Laryngotracheoesophageal cleft type 1 - - 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 - - - - - - - - 93941 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93941 - Laryngotracheoesophageal cleft type 4 - - Clinical subtype - - - - - - - - 280205 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280205 - Laryngotracheoesophageal cleft type 0 - - Clinical subtype - - - - - - - - - - 454750 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=454750 - Isolated tracheoesophageal fistula - - Morphological anomaly - - - - - - - - - - 108961 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=108961 - Syndromic esophageal malformation - - Category - - - - - - 887 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=887 - VACTERL/VATER association - - Malformation syndrome - - - - - - - - 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 - - - - - - - - 199293 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199293 - Congenital microgastria - - 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 - - - - - - - - - - 2538 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2538 - Microgastria-limb reduction defect syndrome - - Malformation syndrome - - - - - - - - - - - - 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 - - - - - - - - 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 - - - - - - - - 1198 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1198 - Colonic atresia - - 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 - - - - - - - - - - - - 98041 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98041 - 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 - - - - - - 2040 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2040 - Congenital respiratory-biliary fistula - - Morphological anomaly - - - - - - - - 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 - - - - - - - - 30391 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=30391 - Isolated biliary atresia - - Morphological anomaly - - - - - - - - 53035 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53035 - Caroli disease - - Malformation syndrome - - - - - - - - 101351 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101351 - Familial isolated congenital asplenia - - Morphological anomaly - - - - - - - - 457083 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457083 - Isolated splenogonadal fusion - - 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 - - - - - - - - 693869 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=693869 - Gallblader arteriovenous malformation - - Malformation syndrome - - - - - - - - 662388 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662388 - Isolated gallbladder duplication - - Morphological anomaly - - - - - - - - 688523 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=688523 - Splenic venous malformation - - Disease - - - - - - - - 693863 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=693863 - Splenic arteriovenous malformation - - Malformation syndrome - - - - - - - - 693826 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=693826 - Pancreatic arteriovenous malformation - - Malformation syndrome - - - - - - - - - - 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 - - - - - - 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 - - - - - - - - 244283 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=244283 - Biliary atresia with splenic malformation 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 - - - - - - - - 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 - - - - - - - - - - - - 98043 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98043 - Diaphragmatic or abdominal wall malformation - - Category - - - - - - 108977 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=108977 - Non-syndromic diaphragmatic or abdominal wall malformation - - Category - - - - - - 2140 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2140 - Congenital diaphragmatic hernia - - Morphological anomaly - - - - - - - - 660 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=660 - Omphalocele - - Morphological anomaly - - - - - - 695032 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=695032 - Giant omphalocele - - Clinical subtype - - - - - - - - 695038 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=695038 - Small omphalocele - - 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 - - - - - - - - - - 2368 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2368 - Gastroschisis - - Morphological anomaly - - - - - - - - 490 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=490 - Omphalomesenteric cyst - - Morphological anomaly - - - - - - - - 697986 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=697986 - Congenital peritoneal encapsulation - - Malformation syndrome - - - - - - - - - - 108979 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=108979 - Syndromic diaphragmatic or abdominal wall malformation - - Category - - - - - - 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 - - - - - - - - 280 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280 - Wolf-Hirschhorn syndrome - - Malformation syndrome - - - - - - - - 199 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199 - Cornelia de Lange 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 - - - - - - - - 287 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=287 - Classical Ehlers-Danlos syndrome - - Disease - - - - - - - - 373 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=373 - Simpson-Golabi-Behmel syndrome - - Malformation syndrome - - - - - - - - 1335 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1335 - Pentalogy of Cantrell - - Malformation syndrome - - - - - - - - 2059 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2059 - Fryns 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 - - - - - - - - 2143 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2143 - Donnai-Barrow syndrome - - Malformation syndrome - - - - - - - - 2322 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2322 - Kabuki syndrome - - Malformation syndrome - - - - - - - - 2369 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2369 - Limb body wall complex - - Malformation syndrome - - - - - - - - 2470 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2470 - Matthew-Wood 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 - - - - - - - - 2847 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2847 - Pericardial and diaphragmatic defect - - Malformation syndrome - - - - - - - - 3164 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3164 - Omphalocele syndrome, Shprintzen-Goldberg type - - 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 - - - - - - - - - - 96170 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96170 - Emanuel syndrome - - Malformation syndrome - - - - - - - - 230839 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=230839 - Classical-like Ehlers-Danlos syndrome type 1 - - Disease - - - - - - - - 280403 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280403 - Familial omphalocele syndrome with facial dysmorphism - - Malformation syndrome - - - - - - - - 314432 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314432 - Spigelian hernia-cryptorchidism 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 - - - - - - - - - - - - 98044 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98044 - Central nervous system malformation - - Category - - - - - - 108989 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=108989 - 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 - - - - - - 573253 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=573253 - Split cord malformation type II - - Morphological anomaly - - - - - - - - 1671 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1671 - Split cord malformation type I - - 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 - - - - - - - - - - 573278 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=573278 - Split cord malformation - - Clinical group - - - - - - 573253 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=573253 - Split cord malformation type II - - Morphological anomaly - - - - - - - - 1671 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1671 - Split cord malformation type I - - Morphological anomaly - - - - - - - - 633076 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=633076 - Split cord malformation, composite type - - 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 - - - - - - - - - - - - 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 - - - - - - - - - - 98519 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98519 - 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 - - - - - - - - - - 182061 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=182061 - Cerebellar malformation - - Category - - - - - - 59315 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=59315 - Rhombencephalosynapsis - - Malformation syndrome - - - - - - - - 98514 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98514 - Malformation of the cerebellar vermis - - Category - - - - - - 475 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=475 - Isolated Joubert syndrome - - Malformation syndrome - - - - - - - - 199630 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199630 - Isolated cerebellar vermis hypoplasia - - Morphological anomaly - - - - - - - - 269203 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269203 - Isolated cerebellar vermis agenesis - - Morphological anomaly - - - - - - 269206 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269206 - Isolated total cerebellar vermis agenesis - - Clinical subtype - - - - - - - - 269209 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269209 - Isolated partial cerebellar vermis agenesis - - Clinical subtype - - - - - - - - - - - - 98516 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98516 - Malformation of the cerebellar hemispheres - - Category - - - - - - 269218 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269218 - Isolated unilateral hemispheric cerebellar hypoplasia - - Morphological anomaly - - - - - - - - 269221 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269221 - Isolated bilateral hemispheric cerebellar hypoplasia - - Morphological anomaly - - - - - - - - - - 269224 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269224 - Global cerebellar malformation - - Category - - - - - - 1397 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1397 - Hydrocephaly-cerebellar agenesis syndrome - - Malformation syndrome - - - - - - - - 1398 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1398 - Isolated cerebellar agenesis - - Morphological anomaly - - - - - - - - - - - - 269229 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269229 - Pontine tegmental cap dysplasia - - Morphological anomaly - - - - - - - - 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 - - - - - - - - - - 97252 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97252 - Mega-cisterna magna - - Morphological anomaly - - - - - - - - 98922 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98922 - Blake pouch cyst - - Morphological anomaly - - - - - - - - - - 199633 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199633 - Non-syndromic cerebral malformation - - Category - - - - - - 1665 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1665 - Sporadic fetal brain disruption sequence - - Malformation syndrome - - - - - - - - 2477 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2477 - Isolated megalencephaly - - Malformation syndrome - - - - - - - - 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 - - - - - - - - - - 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 - - - - - - - - - - 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 - - - - - - - - 566847 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=566847 - Aprosencephaly/atelencephaly spectrum - - Morphological anomaly - - - - - - 566852 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=566852 - Atelencephaly - - Clinical subtype - - - - - - - - 566857 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=566857 - Aprosencephaly - - Clinical subtype - - - - - - - - - - - - 268936 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268936 - Isolated arhinencephaly - - Morphological anomaly - - - - - - - - 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 - - - - - - 485275 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=485275 - Acquired schizencephaly - - Etiological subtype - - - - - - - - 481986 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=481986 - Familial 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 - - - - - - - - 200 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=200 - Isolated corpus callosum agenesis - - Morphological anomaly - - - - - - - - - - 269194 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269194 - Central nervous system cystic malformation - - Category - - - - - - 2356 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2356 - Arachnoid cyst - - Morphological anomaly - - - - - - - - 269197 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269197 - Glioependymal/ependymal cyst - - Morphological anomaly - - - - - - - - 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 - - - - - - - - - - - - 108991 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=108991 - Syndrome with a central nervous system malformation as a major feature - - Category - - - - - - 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 - - - - - - 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 - - - - - - - - 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 - - - - - - - - - - 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 - - - - - - - - - - 199639 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199639 - Syndrome with corpus callosum agenesis/dysgenesis as a major feature - - 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 - - - - - - - - - - 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 - - - - - - - - 1553 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1553 - Curry-Jones 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 - - - - - - - - 2510 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2510 - Micro 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 - - - - - - - - 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 - - - - - - - - - - 459074 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=459074 - Corpus callosum agenesis-macrocephaly-hypertelorism 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 - - - - - - - - 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 - - - - - - - - 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 - - - - - - - - 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 - - - - - - - - 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 - - - - - - - - - - 269523 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269523 - Syndrome with a cerebellar malformation as a major feature - - Category - - - - - - 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 - - - - - - - - 314597 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314597 - Chudley-McCullough syndrome - - Malformation syndrome - - - - - - - - 1493 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1493 - Vici syndrome - - Malformation syndrome - - - - - - - - 443162 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443162 - NDE1-related microhydranencephaly - - 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 - - - - - - - - 1532 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1532 - Gómez-López-Hernández 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 - - - - - - - - 2754 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2754 - Orofaciodigital syndrome type 6 - - Malformation syndrome - - - - - - - - 2941 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2941 - Porencephaly-cerebellar hypoplasia-internal malformations syndrome - - Malformation syndrome - - - - - - - - 3322 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3322 - Hoyeraal-Hreidarsson syndrome - - Disease - - - - - - - - 3469 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3469 - XK aprosencephaly syndrome - - Malformation syndrome - - - - - - - - 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 - - - - - - - - 269546 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269546 - Syndrome with a Dandy-Walker malformation as a major feature - - Category - - - - - - 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 - - - - - - - - 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 - - - - - - - - 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 - - - - - - - - 2427 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2427 - Macrocephaly-short stature-paraplegia syndrome - - 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 - - - - - - - - 79332 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79332 - B4GALT1-CDG - - Disease - - - - - - - - 1566 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1566 - Dandy-Walker malformation-postaxial polydactyly syndrome - - Malformation syndrome - - - - - - - - - - 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 - - - - - - - - 467166 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=467166 - Tubulinopathy-associated dysgyria - - Disease - - - - - - - - 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 - - - - - - - - 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 - - - - - - - - 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 - - - - - - - - 580933 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=580933 - Lethal brain and heart developmental defects - - Malformation syndrome - - - - - - - - 611223 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=611223 - EN1-related dorsoventral syndrome - - 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 - - - - - - - - - - 693549 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=693549 - Facial dysmorphism-Intellectual disability-rhombencephalosynapsis 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 - - - - - - - - - - 269531 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269531 - Other syndrome with a central nervous system malformation as a major feature - - Category - - - - - - 529574 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=529574 - Duane retraction syndrome with congenital deafness - - Malformation syndrome - - - - - - - - 443162 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443162 - NDE1-related microhydranencephaly - - Malformation syndrome - - - - - - - - 480528 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480528 - Lethal hydranencephaly-diaphragmatic hernia 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 - - - - - - - - 93932 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93932 - FG syndrome type 1 - - Disease - - - - - - - - 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 - - - - - - - - 3176 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3176 - Spina bifida-hypospadias syndrome - - Malformation syndrome - - - - - - - - 1647 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1647 - Oculocerebrocutaneous syndrome - - Malformation syndrome - - - - - - - - 1756 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1756 - Caudal duplication - - Malformation syndrome - - - - - - - - 2065 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2065 - Galloway-Mowat 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 - - - - - - - - 2163 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2163 - Holoprosencephaly-craniosynostosis syndrome - - Malformation syndrome - - - - - - - - 2165 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2165 - Holoprosencephaly-caudal dysgenesis syndrome - - Malformation syndrome - - - - - - - - 2189 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2189 - Hydrolethalus - - Malformation syndrome - - - - - - - - 2351 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2351 - Kousseff syndrome - - Malformation syndrome - - - - - - - - 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 - - - - - - - - 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 - - - - - - - - 63862 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=63862 - Schisis association - - Malformation syndrome - - - - - - - - 66625 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66625 - Cerebrooculonasal syndrome - - Malformation syndrome - - - - - - - - 83628 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83628 - LUMBAR syndrome - - 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 - - - - - - - - 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 - - - - - - - - 306547 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306547 - Porencephaly-microcephaly-bilateral congenital cataract syndrome - - Malformation syndrome - - - - - - - - 314597 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314597 - Chudley-McCullough 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 - - - - - - - - 443988 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443988 - Ventriculomegaly-cystic kidney disease - - 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 - - - - - - - - 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 - - - - - - - - 2117 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2117 - Hartsfield 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 - - - - - - - - 556955 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=556955 - Pancreatic agenesis-holoprosencephaly syndrome - - Disease - - - - - - - - 1861 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1861 - Thoracic dysplasia-hydrocephalus syndrome - - Malformation syndrome - - - - - - - - 544469 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=544469 - PRUNE1-related neurological 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 - - - - - - - - 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 - - - - - - - - - - 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 - - - - - - - - 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 - - - - - - - - 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 - - - - - - - - 688642 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=688642 - Turnpenny-Fry 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 - - - - - - - - - - - - - - 98045 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98045 - 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 - - - - - - 2414 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2414 - Congenital pulmonary lymphangiectasia - - Disease - - - - - - - - 2444 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2444 - Congenital pulmonary airway malformation - - Malformation syndrome - - - - - - 280827 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280827 - Congenital pulmonary airway malformation type 0 - - Clinical subtype - - - - - - - - 280832 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280832 - Congenital pulmonary airway malformation type 1 - - Clinical subtype - - - - - - - - 280840 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280840 - Congenital pulmonary airway malformation type 2 - - Clinical subtype - - - - - - - - 280847 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280847 - Congenital pulmonary airway malformation type 3 - - Clinical subtype - - - - - - - - 280854 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280854 - Congenital pulmonary airway malformation type 4 - - Clinical subtype - - - - - - - - - - 3346 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3346 - Tracheal agenesis - - Morphological anomaly - - - - - - - - 984 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=984 - Pulmonary agenesis - - Morphological anomaly - - - - - - - - 2040 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2040 - Congenital respiratory-biliary fistula - - Morphological anomaly - - - - - - - - 1928 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1928 - Congenital lobar emphysema - - Morphological anomaly - - - - - - - - 2004 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2004 - Laryngotracheoesophageal cleft - - Morphological anomaly - - - - - - 93938 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93938 - Laryngotracheoesophageal cleft type 1 - - 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 - - - - - - - - 93941 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93941 - Laryngotracheoesophageal cleft type 4 - - Clinical subtype - - - - - - - - 280205 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280205 - Laryngotracheoesophageal cleft type 0 - - Clinical subtype - - - - - - - - - - 2257 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2257 - Primary pulmonary hypoplasia - - Morphological anomaly - - - - - - - - 2038 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2038 - Pulmonary arteriovenous malformation - - Morphological anomaly - - - - - - - - 3161 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3161 - Congenital pulmonary sequestration - - Malformation syndrome - - - - - - 280802 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280802 - Intralobar congenital pulmonary sequestration - - Clinical subtype - - - - - - - - 280811 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280811 - Extralobar congenital pulmonary sequestration - - Clinical subtype - - - - - - - - 280821 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280821 - Communicating congenital bronchopulmonary-foregut malformation - - Clinical subtype - - - - - - - - - - 70589 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70589 - Bronchopulmonary dysplasia - - Malformation syndrome - - - - - - - - 95430 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95430 - Congenital tracheomalacia - - Morphological anomaly - - - - - - - - 411501 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411501 - Williams-Campbell syndrome - - Morphological anomaly - - - - - - - - 700286 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700286 - Congenital high airway obstruction syndrome - - Clinical syndrome - - - - - - - - 649014 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=649014 - Bronchial malformation - - Clinical group - - - - - - 648992 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=648992 - Non-syndromic bridging bronchus - - Morphological anomaly - - - - - - - - 649010 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=649010 - Non-syndromic congenital bronchial atresia - - Morphological anomaly - - - - - - - - 649029 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=649029 - Isolated left bronchial isomerism - - Morphological anomaly - - - - - - - - 2357 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2357 - Bronchogenic cyst - - Morphological anomaly - - - - - - - - - - 454750 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=454750 - Isolated tracheoesophageal fistula - - Morphological anomaly - - - - - - - - - - 108995 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=108995 - Syndromic respiratory or mediastinal malformation - - Category - - - - - - 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 - - - - - - - - 1486 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1486 - Lethal congenital contracture syndrome type 1 - - Malformation syndrome - - - - - - - - 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 - - - - - - - - 2745 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2745 - Opitz GBBB syndrome - - Malformation syndrome - - - - - - - - 1132 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1132 - Aortic arch defects - - Category - - - - - - 99075 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99075 - Encircling double aortic arch - - Morphological anomaly - - - - - - - - 99076 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99076 - Persistent fifth aortic arch - - Morphological anomaly - - - - - - - - 99077 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99077 - Kommerell diverticulum - - Morphological anomaly - - - - - - - - 99078 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99078 - Neuhauser anomaly - - Morphological anomaly - - - - - - - - 99079 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99079 - Cervical aortic arch - - Morphological anomaly - - - - - - - - 99081 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99081 - Right aortic arch - - Morphological anomaly - - - - - - - - 99082 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99082 - Dysphagia lusoria - - Morphological anomaly - - - - - - - - - - - - - - 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 - - - - - - 90307 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90307 - Parkes Weber syndrome - - Disease - - - - - - - - 90308 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90308 - Capillary-lymphatic-venous malformation with segmental distribution - - 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 - - - - - - 65285 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65285 - Lhermitte-Duclos disease - - Clinical subtype - - - - - - - - 201 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=201 - Cowden syndrome - - 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 - - - - - - - - - - - - 98553 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98553 - Developmental defect of the eye - - Category - - - - - - 83461 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83461 - Congenital primary aphakia - - Malformation syndrome - - - - - - - - 137905 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137905 - Syndromic optic nerve hypoplasia - - 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 - - - - - - - - 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 - - - - - - - - - - 519333 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519333 - Congenital optic disc excavation - - Category - - - - - - 519400 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519400 - Peripapillary staphyloma - - Morphological anomaly - - - - - - - - 519404 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519404 - Optic disc pit - - 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 - - - - - - - - 35737 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35737 - Morning glory disc anomaly - - Morphological anomaly - - - - - - - - 519402 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519402 - Isolated megalopapilla - - Morphological anomaly - - - - - - - - - - 519345 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519345 - Rare disorder with optic disc malformation - - Category - - - - - - 324737 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324737 - SRD5A3-CDG - - Disease - - - - - - - - 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 - - - - - - - - 1475 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1475 - Renal coloboma syndrome - - Malformation syndrome - - - - - - - - - - 98560 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98560 - Rare 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 - - - - - - 920 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=920 - Ablepharon macrostomia syndrome - - Malformation syndrome - - - - - - - - 2671 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2671 - Neu-Laxova syndrome - - Malformation syndrome - - - - - - 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 - - - - - - - - 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 - - - - - - - - - - - - 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 - - - - - - - - - - 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 - - - - - - - - 85275 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85275 - Microphthalmia-ankyloblepharon-intellectual disability syndrome - - Malformation syndrome - - - - - - - - - - 98566 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98566 - Syndromic eyelid coloboma - - 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 - - - - - - - - 246 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=246 - Postaxial acrofacial dysostosis - - Malformation syndrome - - - - - - - - 1234 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1234 - Bartsocas-Papas syndrome - - 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 - - - - - - - - 2717 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2717 - Oculotrichoanal 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 - - - - - - - - - - 98567 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98567 - Rare eyelid malposition disorder - - Category - - - - - - 98578 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98578 - Rare disorder with ptosis - - Category - - - - - - 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 - - - - - - - - 2308 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2308 - Jacobsen 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 - - - - - - - - 1323 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1323 - Camptodactyly-joint contractures-facial skeletal defects 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 - - - - - - - - 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 - - - - - - - - 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 - - - - - - - - 293642 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293642 - Blepharophimosis-intellectual disability syndrome - - Clinical group - - - - - - 637013 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=637013 - SMARCA2-related blepharophimosis-intellectual disability syndrome - - Malformation syndrome - - - - - - - - 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 - - - - - - - - 700160 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700160 - ADNP-related blepharophimosis-intellectual disability syndrome - - Disease - - - - - - - - - - 91411 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91411 - Congenital ptosis - - 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 - - - - - - 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 - - - - - - - - - - 98571 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98571 - Secondary ectropion - - Category - - - - - - 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 - - - - - - - - 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 - - - - - - 281127 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=281127 - Acral self-healing collodion baby - - Disease - - - - - - - - 281122 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=281122 - Self-improving collodion baby - - 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 - - - - - - - - 313 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313 - Lamellar ichthyosis - - Disease - - - - - - - - 289586 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289586 - Exfoliative ichthyosis - - Disease - - - - - - - - - - - - - - 519270 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519270 - Rare 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 - - - - - - - - 519386 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519386 - Isolated congenital entropion - - Morphological anomaly - - - - - - - - - - 519390 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519390 - Isolated blepharochalasis - - Disease - - - - - - - - 1253 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1253 - Ascher syndrome - - Malformation syndrome - - - - - - - - 46486 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=46486 - Mucous membrane pemphigoid - - Disease - - - - - - - - 98574 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98574 - Syndromic epicanthus - - Category - - - - - - 1705 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1705 - Distal duplication 14q 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 - - - - - - - - - - 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 - - - - - - - - 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 - - - - - - 2745 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2745 - Opitz GBBB syndrome - - Malformation syndrome - - - - - - - - 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 - - - - - - - - 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 - - - - - - - - - - 2707 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2707 - Oculocerebrofacial syndrome, Kaufman type - - 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 - - - - - - 648 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=648 - Noonan syndrome - - Malformation syndrome - - - - - - - - 870 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=870 - Down 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 - - - - - - - - 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 - - - - - - - - - - - - - - 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 - - - - - - - - - - 98605 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98605 - Lacrimal drainage system anomaly - - Category - - - - - - 141083 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141083 - Nasolacrimal duct cyst - - Morphological anomaly - - - - - - - - 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 - - - - - - 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 - - - - - - - - 1775 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1775 - Dyskeratosis congenita - - Disease - - - - - - - - - - - - 519272 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519272 - Structural developmental eye defect - - Category - - - - - - 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 - - - - - - 568 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=568 - Microphthalmia, Lenz type - - Malformation syndrome - - - - - - - - 1106 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1106 - Microphthalmia with limb anomalies - - Malformation syndrome - - - - - - - - 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 - - - - - - - - 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 - - - - - - - - 157962 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157962 - Oculoauricular syndrome, Schorderet type - - Malformation syndrome - - - - - - - - 178364 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178364 - Syndromic microphthalmia type 5 - - 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 - - - - - - - - 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 - - - - - - - - 2432 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2432 - Macrosomia-microphthalmia-cleft palate 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 - - - - - - - - 1647 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1647 - Oculocerebrocutaneous syndrome - - 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 - - - - - - - - 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 - - - - - - - - - - - - 466682 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466682 - Euthyroid Graves orbitopathy - - Disease - - - - - - - - 468672 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=468672 - Colobomatous macrophthalmia-microcornea syndrome - - Disease - - - - - - - - 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 - - - - - - - - 519384 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519384 - Congenital cystic eye - - Morphological anomaly - - - - - - - - 363396 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363396 - High myopia-sensorineural deafness syndrome - - Disease - - - - - - - - - - 88632 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88632 - Anterior segment developmental anomaly - - Category - - - - - - 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 - - - - - - - - 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 - - - - - - - - 708 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=708 - Peters anomaly - - Morphological anomaly - - - - - - - - 91483 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91483 - Rieger anomaly - - Morphological anomaly - - - - - - - - 566 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=566 - Congenital microcoria - - 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 - - - - - - - - 519392 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519392 - Isolated iridoschisis - - Disease - - - - - - - - - - 519276 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519276 - Anterior segment developmental abnormality with extraocular manifestations - - Category - - - - - - 709 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=709 - Peters plus syndrome - - Malformation syndrome - - - - - - - - 782 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=782 - Axenfeld-Rieger 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 - - - - - - - - 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 - - - - - - - - 195 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=195 - Cat-eye syndrome - - Malformation syndrome - - - - - - - - 96125 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96125 - Distal deletion 6p 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 - - - - - - - - - - 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 - - - - - - - - 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 - - - - - - - - - - 506307 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=506307 - Stromme syndrome - - Malformation syndrome - - - - - - - - 2321 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2321 - Jung 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 - - - - - - - - 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 - - - - - - - - - - 98989 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98989 - Cerulean 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 - - - - - - - - - - 98652 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98652 - Lens size anomaly - - 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 - - - - - - - - 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 - - - - - - - - 3086 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3086 - Autosomal dominant vitreoretinochoroidopathy - - 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 - - - - - - - - - - 519396 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519396 - Isolated microspherophakia - - Morphological anomaly - - - - - - - - - - 98653 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98653 - Lens position anomaly - - Category - - - - - - 1885 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1885 - Isolated ectopia lentis - - Malformation syndrome - - - - - - - - 519292 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519292 - Syndromic ectopia lentis - - Category - - - - - - 2092 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2092 - Focal dermal hypoplasia - - Malformation syndrome - - - - - - - - 3449 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3449 - Weill-Marchesani syndrome - - Malformation syndrome - - - - - - - - 231736 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231736 - Microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma 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 - - - - - - - - - - 2551 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2551 - Microspherophakia-metaphyseal dysplasia 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 - - - - - - - - 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 - - - - - - - - 2325 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2325 - Epidermolysis bullosa simplex with anodontia/hypodontia - - Malformation syndrome - - - - - - - - 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 - - - - - - - - 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 - - - - - - - - - - - - 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 - - - - - - - - - - 98943 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98943 - Coloboma of eye lens - - Morphological anomaly - - - - - - - - 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 - - - - - - - - - - 98942 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98942 - Coloboma of choroid and retina - - Morphological anomaly - - - - - - - - 1471 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1471 - Coloboma of macula-brachydactyly type B 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 - - - - - - - - 98945 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98945 - Coloboma of macula - - Morphological anomaly - - - - - - - - 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 - - - - - - - - - - 98631 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98631 - Congenital malformation of the eye with glaucoma as a major feature - - Category - - - - - - 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 - - - - - - - - - - 94058 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94058 - Neovascular glaucoma - - Particular clinical situation in a disease or syndrome - - - - - - - - 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 - - - - - - - - 792 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=792 - X-linked retinoschisis - - 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 - - - - - - - - 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 - - - - - - - - 708 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=708 - Peters anomaly - - Morphological anomaly - - - - - - - - 91483 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91483 - Rieger anomaly - - Morphological anomaly - - - - - - - - 566 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=566 - Congenital microcoria - - 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 - - - - - - - - 519392 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519392 - Isolated iridoschisis - - Disease - - - - - - - - - - 98973 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98973 - Posterior polymorphous corneal dystrophy - - Disease - - - - - - - - - - 637064 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=637064 - Isolated optic nerve aplasia - - Morphological anomaly - - - - - - - - 637061 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=637061 - Isolated optic nerve hypoplasia - - Morphological anomaly - - - - - - - - - - 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 - - - - - - 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 - - - - - - - - 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 - - - - - - - - - - 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 - - - - - - - - 35107 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35107 - Desmosterolosis - - Disease - - - - - - - - 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 - - - - - - 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 - - - - - - 309310 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309310 - Mucopolysaccharidosis type 4B - - Clinical subtype - - - - - - - - 309297 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309297 - Mucopolysaccharidosis type 4A - - Clinical subtype - - - - - - - - - - 67041 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=67041 - Hyaluronidase deficiency - - Disease - - - - - - - - 662216 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662216 - Mucopolysaccharidosis type 10 - - 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 - - - - - - - - - - - - - - 139012 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139012 - Rare 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 - - - - - - 2028 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2028 - Juvenile hyaline fibromatosis - - Clinical subtype - - - - - - - - 2176 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2176 - Infantile systemic hyalinosis - - 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 - - - - - - 659396 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=659396 - Cohen-Gibson syndrome - - Malformation syndrome - - - - - - - - 3447 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3447 - Weaver 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 - - - - - - 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 - - - - - - - - 622934 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=622934 - SBDS-related severe neonatal spondylometaphyseal dysplasia - - Malformation syndrome - - - - - - - - - - 93436 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93436 - Acromelic dysplasia - - Clinical group - - - - - - 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 - - - - - - - - 623695 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=623695 - MIR140-related spondyloepiphyseal dysplasia - - 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 - - - - - - - - 50811 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50811 - Lipodystrophy-intellectual disability-deafness syndrome - - Disease - - - - - - - - 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 - - - - - - - - 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 - - - - - - 2028 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2028 - Juvenile hyaline fibromatosis - - Clinical subtype - - - - - - - - 2176 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2176 - Infantile systemic hyalinosis - - 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 - - - - - - - - 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 - - - - - - - - - - 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 - - - - - - - - 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 - - - - - - - - 2770 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2770 - Nasu-Hakola 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 - - - - - - - - 488265 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488265 - Osteofibrous dysplasia - - Disease - - - - - - - - 163634 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163634 - Maffucci syndrome - - Disease - - - - - - - - - - 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 - - - - - - - - - - - - 364559 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=364559 - Dysostosis - - 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 - - - - - - - - 293843 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293843 - 3MC syndrome - - Malformation syndrome - - - - - - - - 79213 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79213 - Mucopolysaccharidosis - - Category - - - - - - 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 - - - - - - 309310 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309310 - Mucopolysaccharidosis type 4B - - Clinical subtype - - - - - - - - 309297 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309297 - Mucopolysaccharidosis type 4A - - Clinical subtype - - - - - - - - - - 67041 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=67041 - Hyaluronidase deficiency - - Disease - - - - - - - - 662216 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662216 - Mucopolysaccharidosis type 10 - - Disease - - - - - - - - - - 648 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=648 - Noonan syndrome - - Malformation syndrome - - - - - - - - 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 - - - - - - - - 65759 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65759 - Carpenter 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 - - - - - - - - - - - - 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 - - - - - - 1296 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1296 - Lambert syndrome - - Malformation syndrome - - - - - - - - 107 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=107 - BOR 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 - - - - - - - - - - - - 364568 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=364568 - Dysostosis with limb anomaly as a major feature - - Category - - - - - - 488434 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488434 - Camptodactyly syndrome, Guadalajara type 3 - - Malformation syndrome - - - - - - - - 3292 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3292 - Tel Hashomer camptodactyly 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 - - - - - - - - 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 - - - - - - - - 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 - - - - - - - - 2117 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2117 - Hartsfield syndrome - - Malformation syndrome - - - - - - - - 2439 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2439 - Patterson-Stevenson-Fontaine 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 - - - - - - - - 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 - - - - - - - - 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 - - - - - - - - 1275 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1275 - Brachydactyly-elbow wrist dysplasia syndrome - - Malformation syndrome - - - - - - - - 93388 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93388 - Brachydactyly type A1 - - 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 - - - - - - - - - - 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 - - - - - - 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 - - - - - - - - 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 - - - - - - - - 1465 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1465 - Coffin-Siris syndrome - - Malformation syndrome - - - - - - - - 3433 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3433 - Microcephaly-brachydactyly-kyphoscoliosis 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 - - - - - - - - 1278 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1278 - Brachydactyly-preaxial hallux varus syndrome - - Malformation syndrome - - - - - - - - 2956 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2956 - Acrodysplasia scoliosis - - Malformation syndrome - - - - - - - - 1292 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1292 - Brachymorphism-onychodysplasia-dysphalangism 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 - - - - - - - - 52056 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52056 - Ulnar/fibula ray defect-brachydactyly 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 - - - - - - - - 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 - - - - - - - - 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 - - - - - - - - - - 974 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=974 - Adams-Oliver 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 - - - - - - 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 - - - - - - - - 498491 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498491 - Non-syndromic complete hemimelia - - Category - - - - - - 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 - - - - - - - - 294979 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294979 - Isolated absence of both forearm and hand - - 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 - - - - - - - - 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 - - - - - - 295004 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295004 - Central polydactyly - - Morphological anomaly - - - - - - - - 498494 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498494 - Mirror-image 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 - - - - - - - - - - 294955 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294955 - Syndrome with limb reduction defects - - Category - - - - - - 488232 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488232 - Split-foot malformation-mesoaxial polydactyly 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 - - - - - - - - 1354 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1354 - Heart defects-limb shortening 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 - - - - - - - - 392 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=392 - Holt-Oram 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 - - - - - - - - 3312 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3312 - Thalidomide embryopathy - - 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 - - - - - - - - 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 - - - - - - - - 1891 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1891 - Intellectual disability-spasticity-ectrodactyly syndrome - - Malformation syndrome - - - - - - - - 2492 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2492 - FATCO 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 - - - - - - - - 221139 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221139 - Combined immunodeficiency with facio-oculo-skeletal anomalies - - Disease - - - - - - - - 1326 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1326 - Camptodactyly syndrome, Guadalajara type 2 - - Malformation syndrome - - - - - - - - - - 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 - - - - - - - - - - - - 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 - - - - - - - - 1321 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1321 - Camptodactyly-fibrous tissue hyperplasia-skeletal anomalies 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 - - - - - - - - - - - - - - 139021 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139021 - Malformation syndrome with short stature - - Category - - - - - - 904 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=904 - Williams 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 - - - - - - - - - - 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 - - - - - - - - 141333 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141333 - Biemond syndrome type 2 - - Disease - - - - - - - - 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 - - - - - - - - 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 - - - - - - - - 1937 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1937 - Eng-Strom syndrome - - Malformation syndrome - - - - - - - - 456298 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=456298 - 1p35.2 microdeletion syndrome - - Malformation syndrome - - - - - - - - 2332 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2332 - KBG 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 - - - - - - - - 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 - - - - - - - - 1964 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1964 - Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome - - Malformation syndrome - - - - - - - - 488618 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488618 - Transketolase deficiency - - Malformation syndrome - - - - - - - - 2109 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2109 - Hallermann-Streiff-like 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 - - - - - - - - 2183 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2183 - Hydrocephalus-obesity-hypogonadism syndrome - - Malformation syndrome - - - - - - - - 2714 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2714 - Oculo-palato-cerebral 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 - - - - - - - - 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 - - - - - - - - 476406 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=476406 - Congenital generalized hypercontractile muscle stiffness 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 - - - - - - - - - - 3191 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3191 - Subaortic stenosis-short stature 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 - - - - - - - - 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 - - - - - - - - 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 - - - - - - - - 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 - - - - - - - - 592574 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=592574 - Menke-Hennekam syndrome - - Malformation syndrome - - - - - - - - 694946 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=694946 - Alazami-Yuan 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 - - - - - - - - 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 - - - - - - - - 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 - - - - - - - - - - 139024 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139024 - Overgrowth/obesity syndrome - - Category - - - - - - 93460 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93460 - Overgrowth syndrome - - 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 - - - - - - - - - - 2346 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2346 - Angioosteohypertrophic syndrome - - Clinical group - - - - - - 90307 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90307 - Parkes Weber syndrome - - Disease - - - - - - - - 90308 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90308 - Capillary-lymphatic-venous malformation with segmental distribution - - 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 - - - - - - - - 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 - - - - - - - - 109 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=109 - Bannayan-Riley-Ruvalcaba syndrome - - Clinical subtype - - - - - - - - 1926 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1926 - Diabetic embryopathy - - Malformation syndrome - - - - - - - - 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 - - - - - - - - 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 - - - - - - - - - - - - 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 - - - - - - - - 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 - - - - - - - - 293964 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293964 - Hypoinsulinemic hypoglycemia and body hemihypertrophy - - Disease - - - - - - - - 404443 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404443 - Tatton-Brown-Rahman syndrome - - Malformation syndrome - - - - - - - - 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 - - - - - - 659396 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=659396 - Cohen-Gibson syndrome - - Malformation syndrome - - - - - - - - 3447 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3447 - Weaver syndrome - - Malformation syndrome - - - - - - - - 659463 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=659463 - Imagawa-Matsumoto syndrome - - Malformation syndrome - - - - - - - - - - - - 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 - - - - - - - - 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 - - - - - - - - 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 - - - - - - - - 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 - - - - - - - - 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 - - - - - - - - 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 - - - - - - - - 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 - - - - - - - - - - - - 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 - - - - - - - - 2930 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2930 - Cronkhite-Canada syndrome - - Disease - - - - - - - - 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 - - - - - - - - - - 139033 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139033 - Progeroid syndrome - - Category - - - - - - 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 - - - - - - - - 659873 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=659873 - Wormian bones-micrognathia-abnormal dentition-progeroid syndrome - - Malformation syndrome - - - - - - - - 647667 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=647667 - Mandibuloacral dysplasia associated to MTX2 - - Malformation syndrome - - - - - - - - 90342 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90342 - Xeroderma pigmentosum variant - - Disease - - - - - - - - - - 139036 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139036 - 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 - - - - - - - - 90652 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90652 - Otopalatodigital syndrome type 2 - - Malformation syndrome - - - - - - - - 567 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=567 - 22q11.2 deletion 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 - - - - - - - - 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 - - - - - - - - - - 139042 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139042 - 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 - - - - - - - - 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 - - - - - - - - - - 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 - - - - - - - - 1452 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1452 - Cleidocranial dysplasia - - Malformation syndrome - - - - - - - - 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 - - - - - - - - 1660 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1660 - Dermoodontodysplasia - - Malformation syndrome - - - - - - - - 1811 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1811 - Odontomicronychial dysplasia - - 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 - - - - - - - - 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 - - - - - - - - 562559 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=562559 - Anterior maxillary protrusion-strabismus-intellectual disability syndrome - - 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 - - - - - - - - 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 - - - - - - - - 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 - - - - - - - - - - 284149 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284149 - Craniosynostosis-dental anomalies - - Malformation syndrome - - - - - - - - 401911 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401911 - AXIN2-related polyposis - - Disease - - - - - - - - 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 - - - - - - - - 363417 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363417 - Temtamy preaxial brachydactyly 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 - - - - - - - - 659873 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=659873 - Wormian bones-micrognathia-abnormal dentition-progeroid 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 - - - - - - - - 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 - - - - - - - - 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 - - - - - - - - 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 - - - - - - - - - - 155832 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=155832 - Rare head and neck malformation - - Category - - - - - - 1991 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1991 - Cleft lip with or without cleft palate - - Clinical group - - - - - - 141291 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141291 - Cleft lip and alveolus - - Morphological anomaly - - - - - - - - 199302 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199302 - Isolated cleft lip - - Morphological anomaly - - - - - - - - 199306 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199306 - Cleft lip/palate - - Morphological anomaly - - - - - - - - - - 2699 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2699 - Median nodule of the upper lip - - Malformation syndrome - - - - - - - - 2014 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2014 - Cleft palate - - Clinical group - - - - - - 99771 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99771 - Bifid uvula - - Morphological anomaly - - - - - - - - 99772 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99772 - Cleft velum - - Morphological anomaly - - - - - - - - 101023 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101023 - Cleft hard palate - - Morphological anomaly - - - - - - - - 155878 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=155878 - Submucosal cleft palate - - Morphological anomaly - - - - - - - - 664372 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=664372 - Soft and hard cleft palate - - Morphological anomaly - - - - - - - - - - 1166 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1166 - Congenital unilateral hypoplasia of depressor anguli oris - - Morphological anomaly - - - - - - - - 96333 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96333 - Rare otorhinolaryngological malformation - - Category - - - - - - 155835 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=155835 - Cysts and fistulae of the face and oral cavity - - Category - - - - - - 93953 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93953 - Familial thyroglossal duct cyst - - Morphological anomaly - - - - - - - - 141013 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141013 - First branchial cleft anomaly - - Morphological anomaly - - - - - - - - 141022 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141022 - Second branchial cleft anomaly - - Morphological anomaly - - - - - - - - 141030 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141030 - Third branchial cleft anomaly - - Morphological anomaly - - - - - - - - 141037 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141037 - Fourth branchial cleft anomaly - - Morphological anomaly - - - - - - - - 141046 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141046 - Cervical dermoid cyst - - Morphological anomaly - - - - - - - - 141051 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141051 - Facial dermoid cyst - - Morphological anomaly - - - - - - - - 141061 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141061 - Commissural lip fistula - - Morphological anomaly - - - - - - - - 141064 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141064 - Isolated lower lip fistula - - Morphological anomaly - - - - - - - - 141067 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141067 - Cervicofacial fibrochondroma - - Morphological anomaly - - - - - - - - 141071 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141071 - Isolated digestive duplication cyst of the tongue - - Morphological anomaly - - - - - - - - 141103 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141103 - Nasal dermoid cyst - - Morphological anomaly - - - - - - - - 141219 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141219 - Nasal dorsum fistula - - Morphological anomaly - - - - - - - - 155838 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=155838 - Pinnae fistula or cyst - - Morphological anomaly - - - - - - - - - - 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 - - - - - - - - - - 156246 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156246 - Nose and cavum anomaly - - Category - - - - - - 99141 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99141 - Lymphedema-posterior choanal atresia syndrome - - 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 - - - - - - - - 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 - - - - - - - - 1134 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1134 - Isolated arrhinia - - 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 - - - - - - - - 137914 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137914 - Choanal atresia - - Morphological anomaly - - - - - - 137917 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137917 - Choanal atresia, unilateral - - Clinical subtype - - - - - - - - 137920 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137920 - Choanal atresia, bilateral - - Clinical subtype - - - - - - - - - - 141083 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141083 - Nasolacrimal duct cyst - - Morphological anomaly - - - - - - - - 141091 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141091 - Polyrrhinia - - Malformation syndrome - - - - - - - - 141096 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141096 - Supernumerary nostril - - Malformation syndrome - - - - - - - - 141099 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141099 - Proboscis lateralis - - Malformation syndrome - - - - - - - - 141112 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141112 - Nasal glial heterotopia - - Disease - - - - - - - - 141118 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141118 - Nasal encephalocele - - Clinical subtype - - - - - - - - 157832 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157832 - Craniorhiny - - Malformation syndrome - - - - - - - - 162516 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=162516 - Isolated congenital nasal pyriform aperture stenosis - - Malformation syndrome - - - - - - - - 217266 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217266 - BNAR syndrome - - Malformation syndrome - - - - - - - - 466695 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466695 - Supratip dysplasia - - Morphological anomaly - - - - - - - - 451612 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=451612 - Familial congenital nasolacrimal duct obstruction - - Morphological anomaly - - - - - - - - 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 - - - - - - - - - - 156249 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156249 - 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 - - - - - - - - 2372 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2372 - Laryngocele - - Malformation syndrome - - - - - - - - 2004 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2004 - Laryngotracheoesophageal cleft - - Morphological anomaly - - - - - - 93938 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93938 - Laryngotracheoesophageal cleft type 1 - - 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 - - - - - - - - 93941 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93941 - Laryngotracheoesophageal cleft type 4 - - Clinical subtype - - - - - - - - 280205 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280205 - Laryngotracheoesophageal cleft type 0 - - Clinical subtype - - - - - - - - - - 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 - - - - - - - - 137926 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137926 - Primary laryngeal lymphangioma - - Malformation syndrome - - - - - - - - 137932 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137932 - Congenital laryngeal palsy - - Malformation syndrome - - - - - - - - 137935 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137935 - Airway infantile hemangioma - - Disease - - - - - - - - 141121 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141121 - Congenital subglottic stenosis - - Malformation syndrome - - - - - - - - 141124 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141124 - Congenital laryngeal cyst - - Morphological anomaly - - - - - - - - - - 156252 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156252 - Tracheal anomaly - - Category - - - - - - 3346 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3346 - Tracheal agenesis - - Morphological anomaly - - - - - - - - 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 - - - - - - - - - - 164004 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=164004 - Middle and/or inner ear anomaly - - Category - - - - - - 502318 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=502318 - Cochlear nerve deficiency - - Morphological anomaly - - - - - - - - 686556 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=686556 - Isolated congenital cholesteatoma of the middle ear - - Morphological anomaly - - - - - - - - 502305 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=502305 - Cochleovestibular malformation - - Morphological anomaly - - - - - - - - 162526 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=162526 - Isolated congenital auditory ossicle malformation - - Morphological anomaly - - - - - - - - - - 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 - - - - - - 1296 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1296 - Lambert syndrome - - Malformation syndrome - - - - - - - - 107 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=107 - BOR syndrome - - Malformation syndrome - - - - - - - - - - - - - - 141229 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141229 - Facial cleft - - Category - - - - - - 141234 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141234 - Median facial cleft - - Clinical group - - - - - - 2006 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2006 - Median cleft lip/mandible - - Morphological anomaly - - - - - - - - 1791 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1791 - Frontofacionasal dysplasia - - Malformation syndrome - - - - - - - - 2695 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2695 - Bifid nose - - Malformation syndrome - - - - - - - - 141239 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141239 - Median cleft of the upper lip and maxilla - - Morphological anomaly - - - - - - - - 141288 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141288 - Midline cervical 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 - - - - - - - - - - 141253 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141253 - Oblique facial cleft - - Clinical group - - - - - - 141258 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141258 - Tessier number 4 facial cleft - - Morphological anomaly - - - - - - - - 141261 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141261 - Tessier number 5 facial cleft - - Morphological anomaly - - - - - - - - 141265 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141265 - Tessier number 6 facial cleft - - Morphological anomaly - - - - - - - - 155884 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=155884 - Coloboma of superior eyelid - - Morphological anomaly - - - - - - - - 155889 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=155889 - Coloboma of inferior eyelid - - 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 - - - - - - - - - - 155867 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=155867 - Paramedian facial cleft - - Clinical group - - - - - - 141242 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141242 - Paramedian nasal cleft - - Morphological anomaly - - - - - - - - - - - - 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 - - - - - - - - 138044 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=138044 - Rare disease with Pierre Robin syndrome - - Category - - - - - - 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 - - - - - - - - - - 138059 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=138059 - Teratogenic Pierre Robin syndrome - - Category - - - - - - 1920 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1920 - Toluene embryopathy - - Malformation syndrome - - - - - - - - 1923 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1923 - Methimazole embryofetopathy - - Malformation syndrome - - - - - - - - 1926 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1926 - Diabetic embryopathy - - Malformation syndrome - - - - - - - - 2209 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2209 - Maternal phenylketonuria syndrome - - Malformation syndrome - - - - - - - - 2216 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2216 - Maternal hyperthermia-induced birth defects - - Malformation syndrome - - - - - - - - 2305 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2305 - Isotretinoin syndrome - - Malformation syndrome - - - - - - - - 1915 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1915 - Fetal alcohol syndrome - - Malformation syndrome - - - - - - - - 295 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295 - Fetal parvovirus syndrome - - Malformation syndrome - - - - - - - - 1906 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1906 - Fetal valproate spectrum disorder - - Malformation syndrome - - - - - - - - 1908 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1908 - Aminopterin/methotrexate embryofetopathy - - Malformation syndrome - - - - - - - - 1909 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1909 - Indomethacin embryofetopathy - - Malformation syndrome - - - - - - - - 1910 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1910 - Fetal iodine syndrome - - Malformation syndrome - - - - - - - - 1911 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1911 - Cocaine embryofetopathy - - Malformation syndrome - - - - - - - - 1918 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1918 - Fetal minoxidil syndrome - - Malformation syndrome - - - - - - - - 1912 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1912 - Fetal hydantoin syndrome - - Malformation syndrome - - - - - - - - 1913 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1913 - Fetal trimethadione syndrome - - Malformation syndrome - - - - - - - - 1914 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1914 - Vitamin K antagonist embryofetopathy - - Malformation syndrome - - - - - - - - 1917 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1917 - Fetal methylmercury syndrome - - Malformation syndrome - - - - - - - - 1919 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1919 - Phenobarbital embryopathy - - Malformation syndrome - - - - - - - - 485358 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=485358 - Propylthiouracil embryofetopathy - - Malformation syndrome - - - - - - - - - - 364577 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=364577 - Intellectual disability-brachydactyly-Pierre Robin syndrome - - Malformation syndrome - - - - - - - - - - 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 - - - - - - - - 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 - - - - - - - - 1415 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1415 - Hardikar 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 - - - - - - - - 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 - - - - - - - - 660021 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=660021 - Orofacial clefting-cardiac anomalies-facial dysmorphism 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 - - - - - - - - - - 141214 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141214 - Isolated congenital syngnathia - - Malformation syndrome - - - - - - - - 276280 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276280 - Hemihyperplasia-multiple lipomatosis 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 - - - - - - - - - - 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 - - - - - - - - - - - - - - 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 - - - - - - 572333 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572333 - Blepharophimosis-ptosis-epicanthus inversus syndrome plus - - Malformation syndrome - - - - - - - - 1621 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1621 - 3q13 microdeletion syndrome - - 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 - - - - - - - - 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 - - - - - - - - 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 - - - - - - - - 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 - - - - - - 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 - - - - - - - - 498488 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498488 - Overgrowth syndrome with 2q37 translocation - - Malformation syndrome - - - - - - - - - - - - 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 - - - - - - - - - - - - - - - - - - 68341 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=68341 - Multiple congenital anomalies/dysmorphic syndrome - - Category - - - - - - 459787 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=459787 - 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 - - - - - - - - 580933 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=580933 - Lethal brain and heart developmental defects - - 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 - - - - - - - - - - 527468 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=527468 - Diaphragmatic hernia-short bowel-asplenia syndrome - - Malformation syndrome - - - - - - - - 566847 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=566847 - Aprosencephaly/atelencephaly spectrum - - Morphological anomaly - - - - - - 566852 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=566852 - Atelencephaly - - Clinical subtype - - - - - - - - 566857 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=566857 - Aprosencephaly - - Clinical subtype - - - - - - - - - - 633099 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=633099 - PAICS deficiency - - Malformation syndrome - - - - - - - - 480528 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480528 - Lethal hydranencephaly-diaphragmatic hernia 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 - - - - - - - - 1681 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1681 - Diprosopus - - Morphological anomaly - - - - - - - - 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 - - - - - - - - 33108 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33108 - Lethal multiple pterygium syndrome - - Malformation syndrome - - - - - - - - 1972 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1972 - Lethal faciocardiomelic dysplasia - - Malformation syndrome - - - - - - - - 2432 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2432 - Macrosomia-microphthalmia-cleft palate 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 - - - - - - - - 3376 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3376 - Triploidy 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 - - - - - - - - 2077 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2077 - German syndrome - - Malformation syndrome - - - - - - - - - - 102283 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=102283 - Multiple congenital anomalies/dysmorphic syndrome-intellectual disability - - Category - - - - - - 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 - - - - - - - - 261584 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261584 - 5q22 microdeletion 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 - - - - - - - - 263508 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263508 - COG1-CDG - - Disease - - - - - - - - 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 - - - - - - - - 93932 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93932 - FG syndrome type 1 - - Disease - - - - - - - - 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 - - - - - - - - 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 - - - - - - - - 411511 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411511 - Angelman syndrome due to a point mutation - - Etiological subtype - - - - - - - - - - 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 - - - - - - - - 77299 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77299 - Microphthalmia-brain atrophy syndrome - - Malformation syndrome - - - - - - - - 96263 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96263 - 48,XXXY syndrome - - Malformation syndrome - - - - - - - - 88618 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88618 - S-adenosylhomocysteine hydrolase deficiency - - Disease - - - - - - - - 96264 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96264 - 49,XXXXY 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 - - - - - - - - 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 - - - - - - - - 85297 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85297 - X-linked spinocerebellar ataxia type 3 - - 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 - - - - - - - - 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 - - - - - - - - 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 - - - - - - - - - - 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 - - - - - - - - 210548 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210548 - Macrocephaly-intellectual disability-autism 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 - - - - - - - - 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 - - - - - - - - 324313 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324313 - 9p13 microdeletion 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 - - - - - - - - 435628 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435628 - Keppen-Lubinsky 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 - - - - - - - - 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 - - - - - - - - 53271 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53271 - Muenke syndrome - - Malformation syndrome - - - - - - - - 93473 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93473 - Hurler syndrome - - Clinical subtype - - - - - - - - 276432 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276432 - Ogden 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 - - - - - - - - 251019 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251019 - 2q32q33 deletion syndrome - - Malformation syndrome - - - - - - - - 46059 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=46059 - Lathosterolosis - - Disease - - - - - - - - 411493 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411493 - Pontocerebellar hypoplasia type 10 - - 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 - - - - - - - - 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 - - - - - - - - 217335 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217335 - RIN2 syndrome - - Malformation syndrome - - - - - - - - 85194 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85194 - Spondylo-ocular 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 - - - - - - - - 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 - - - - - - - - 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 - - - - - - - - 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 - - - - - - - - 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 - - - - - - - - 228402 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228402 - 2q23.1 microdeletion 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 - - - - - - - - 35107 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35107 - Desmosterolosis - - Disease - - - - - - - - 818 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=818 - Smith-Lemli-Opitz syndrome - - Malformation syndrome - - - - - - - - 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 - - - - - - - - - - 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 - - - - - - - - - - - - 48431 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=48431 - Congenital cataracts-facial dysmorphism-neuropathy 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 - - - - - - - - 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 - - - - - - - - 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 - - - - - - - - 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 - - - - - - - - 85286 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85286 - X-linked intellectual disability, Shashi type - - Malformation syndrome - - - - - - - - 137634 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137634 - Overgrowth-macrocephaly-facial dysmorphism syndrome - - 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 - - - - - - - - 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 - - - - - - - - 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 - - - - - - - - 85325 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85325 - X-linked intellectual disability, Stevenson 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 - - - - - - - - 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 - - - - - - - - - - 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 - - - - - - - - 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 - - - - - - - - 141333 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141333 - Biemond syndrome type 2 - - Disease - - - - - - - - 199318 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199318 - 15q13.3 microdeletion syndrome - - Malformation syndrome - - - - - - - - 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 - - - - - - - - 228426 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228426 - Syndromic multisystem autoimmune disease due to Itch deficiency - - Disease - - - - - - - - 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 - - - - - - - - - - 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 - - - - - - 637013 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=637013 - SMARCA2-related blepharophimosis-intellectual disability syndrome - - Malformation syndrome - - - - - - - - 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 - - - - - - - - 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 - - - - - - - - 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 - - - - - - - - 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 - - - - - - - - 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 - - - - - - - - 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 - - - - - - - - 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 - - - - - - - - 811 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=811 - Shwachman-Diamond 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 - - - - - - - - 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 - - - - - - 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 - - - - - - - - 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 - - - - - - - - - - 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 - - - - - - - - 60040 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=60040 - Megalencephaly-capillary malformation-polymicrogyria syndrome - - Malformation syndrome - - - - - - - - 50811 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50811 - Lipodystrophy-intellectual disability-deafness syndrome - - Disease - - - - - - - - 36367 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36367 - Distal deletion 1q syndrome - - Malformation syndrome - - - - - - - - 79094 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79094 - Grange syndrome - - Malformation syndrome - - - - - - - - 75496 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75496 - B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome - - Clinical subtype - - - - - - - - 50815 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50815 - Branchiogenic deafness 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 - - - - - - - - 137831 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137831 - X-linked intellectual disability-cerebellar hypoplasia syndrome - - Disease - - - - - - - - 247262 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247262 - Hyperphosphatasia-intellectual disability 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 - - - - - - - - 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 - - - - - - - - 99812 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99812 - LIG4 syndrome - - Disease - - - - - - - - 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 - - - - - - - - 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 - - - - - - - - 69737 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69737 - Bosley-Salih-Alorainy syndrome - - Malformation syndrome - - - - - - - - 99741 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99741 - King-Denborough 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 - - - - - - - - 289553 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289553 - Dysmorphism-conductive hearing loss-heart defect 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 - - - - - - - - - - 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 - - - - - - - - 436003 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436003 - Contractures-developmental delay-Pierre Robin syndrome - - Malformation syndrome - - - - - - - - 90652 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90652 - Otopalatodigital syndrome type 2 - - 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 - - - - - - - - - - 261323 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261323 - 21q22.11q22.12 microdeletion 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 - - - - - - - - 83472 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83472 - CAMOS 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 - - - - - - - - 1891 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1891 - Intellectual disability-spasticity-ectrodactyly syndrome - - Malformation syndrome - - - - - - - - 2058 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2058 - Fryns-Smeets-Thiry syndrome - - Malformation syndrome - - - - - - - - 3078 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3078 - Severe X-linked intellectual disability, Gustavson type - - 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 - - - - - - - - 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 - - - - - - - - 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 - - - - - - - - 1825 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1825 - Epiphyseal dysplasia-hearing loss-dysmorphism 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 - - - - - - - - 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 - - - - - - - - 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 - - - - - - - - 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 - - - - - - - - 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 - - - - - - - - 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 - - - - - - - - 2261 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2261 - Hypospadias-intellectual disability, Goldblatt type 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 - - - - - - - - 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 - - - - - - - - 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 - - - - - - - - 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 - - - - - - - - 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 - - - - - - - - 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 - - - - - - - - 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 - - - - - - - - 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 - - - - - - - - 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 - - - - - - - - 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 - - - - - - - - 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 - - - - - - - - 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 - - - - - - - - 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 - - - - - - - - 3044 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3044 - Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus 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 - - - - - - - - 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 - - - - - - - - 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 - - - - - - - - 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 - - - - - - - - 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 - - - - - - - - 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 - - - - - - - - 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 - - - - - - - - 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 - - - - - - - - 2117 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2117 - Hartsfield 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 - - - - - - - - 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 - - - - - - - - 2710 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2710 - Oculodentodigital dysplasia - - Malformation syndrome - - - - - - - - 1662 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1662 - Restrictive dermopathy - - Disease - - - - - - - - 3338 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3338 - Toriello-Carey syndrome - - Malformation syndrome - - - - - - - - 556955 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=556955 - Pancreatic agenesis-holoprosencephaly syndrome - - Disease - - - - - - - - 544503 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=544503 - RNF13-related severe early-onset epileptic encephalopathy - - Disease - - - - - - - - 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 - - - - - - - - 506358 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=506358 - Gabriele-de Vries 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 - - - - - - - - 580940 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=580940 - QRICH1-related intellectual disability-chondrodysplasia syndrome - - Malformation syndrome - - - - - - - - 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 - - - - - - - - 500533 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500533 - Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome - - Disease - - - - - - - - 138 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=138 - CHARGE syndrome - - 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 - - - - - - - - - - 502430 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=502430 - Weiss-Kruszka 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 - - - - - - - - 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 - - - - - - - - 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 - - - - - - - - 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 - - - - - - - - 1239 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1239 - Behr 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 - - - - - - - - 1964 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1964 - Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome - - Malformation syndrome - - - - - - - - 2896 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2896 - Pitt-Hopkins syndrome - - Malformation syndrome - - - - - - - - 2919 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2919 - Orofaciodigital syndrome type 5 - - Malformation syndrome - - - - - - - - 502437 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=502437 - 4q25 proximal deletion syndrome - - Malformation syndrome - - - - - - - - 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 - - - - - - - - 90650 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90650 - Otopalatodigital syndrome type 1 - - 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 - - - - - - - - 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 - - - - - - - - 477817 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477817 - PMP22-RAI1 contiguous gene duplication 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 - - - - - - - - 300573 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300573 - Polymicrogyria due to TUBB2B mutation - - 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 - - - - - - - - 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 - - - - - - - - 2479 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2479 - Megalocornea-intellectual disability syndrome - - Malformation syndrome - - - - - - - - 337 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=337 - Fibrodysplasia ossificans progressiva - - 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 - - - - - - - - - - 475 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=475 - Isolated Joubert syndrome - - Malformation syndrome - - - - - - - - 2512 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2512 - Autosomal recessive primary microcephaly - - Etiological subtype - - - - - - - - 239 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=239 - Dyggve-Melchior-Clausen disease - - Disease - - - - - - - - 84 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=84 - Fanconi anemia - - Malformation syndrome - - - - - - - - 2052 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2052 - Fraser 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 - - - - - - - - 1078 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1078 - Thumb stiffness-brachydactyly-intellectual disability 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 - - - - - - - - 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 - - - - - - - - 576 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=576 - Mucolipidosis type II - - 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 - - - - - - - - - - 1465 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1465 - Coffin-Siris 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 - - - - - - - - 235 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=235 - Dubowitz syndrome - - Malformation syndrome - - - - - - - - 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 - - - - - - - - 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 - - - - - - - - 1308 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1308 - C 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 - - - - - - - - 1064 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1064 - Aniridia-renal agenesis-psychomotor retardation 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 - - - - - - - - 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 - - - - - - - - 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 - - - - - - - - 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 - - - - - - - - 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 - - - - - - - - 893 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=893 - WAGR syndrome - - Malformation syndrome - - - - - - - - 447980 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447980 - 19p13.3 microduplication 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 - - - - - - - - 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 - - - - - - - - - - 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 - - - - - - - - - - 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 - - - - - - - - 468678 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=468678 - White-Sutton syndrome - - Disease - - - - - - - - 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 - - - - - - - - 468699 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=468699 - SLC39A8-CDG - - Disease - - - - - - - - 3101 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3101 - Richieri Costa-da Silva 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 - - - - - - - - 2233 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2233 - Hypogonadism-mitral valve prolapse-intellectual disability syndrome - - Disease - - - - - - - - 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 - - - - - - - - 2318 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2318 - Joubert syndrome with oculorenal defect - - 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 - - - - - - - - 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 - - - - - - - - 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 - - - - - - - - 1321 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1321 - Camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome - - Malformation syndrome - - - - - - - - 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 - - - - - - - - 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 - - - - - - - - 166035 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166035 - Brachydactyly-short stature-retinitis pigmentosa syndrome - - Malformation syndrome - - - - - - - - 506307 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=506307 - Stromme 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 - - - - - - - - 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 - - - - - - - - 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 - - - - - - - - 280 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280 - Wolf-Hirschhorn 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 - - - - - - - - 494344 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=494344 - RERE-related neurodevelopmental 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 - - - - - - - - 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 - - - - - - - - 870 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=870 - Down 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 - - - - - - - - 3010 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3010 - Qazi-Markouizos syndrome - - Disease - - - - - - - - 2523 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2523 - Microcephaly-brain defect-spasticity-hypernatremia syndrome - - Malformation syndrome - - - - - - - - 87 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=87 - Apert syndrome - - Malformation syndrome - - - - - - - - 192 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=192 - Coffin-Lowry syndrome - - Malformation syndrome - - - - - - - - 568 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=568 - Microphthalmia, Lenz type - - Malformation syndrome - - - - - - - - 3019 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3019 - Ramon 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 - - - - - - - - 1493 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1493 - Vici syndrome - - Malformation syndrome - - - - - - - - 647 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=647 - Nijmegen breakage syndrome - - Malformation syndrome - - - - - - - - 1496 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1496 - Corpus callosum agenesis-neuronopathy syndrome - - Disease - - - - - - - - 974 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=974 - Adams-Oliver 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 - - - - - - - - 1488 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1488 - Cooper-Jabs syndrome - - Malformation syndrome - - - - - - - - 2720 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2720 - Oculocerebral hypopigmentation syndrome, Preus type - - Malformation syndrome - - - - - - - - 2719 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2719 - Oculocerebral hypopigmentation syndrome, Cross type - - 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 - - - - - - - - - - 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 - - - - - - - - 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 - - - - - - - - 2556 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2556 - Microphthalmia with linear skin defects 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 - - - - - - - - 1229 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1229 - Congenital intrauterine infection-like syndrome - - Malformation syndrome - - - - - - - - 1399 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1399 - Richards-Rundle 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 - - - - - - - - 2278 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2278 - Ichthyosis-intellectual disability-dwarfism-renal impairment 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 - - - - - - - - 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 - - - - - - - - 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 - - - - - - - - 589435 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589435 - Spondylometaphyseal dysplasia-corneal dystrophy 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 - - - - - - - - 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 - - - - - - - - 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 - - - - - - - - 2518 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2518 - Autosomal recessive chorioretinopathy-microcephaly 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 - - - - - - - - 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 - - - - - - - - - - 352587 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352587 - Focal epilepsy-intellectual disability-cerebro-cerebellar malformation - - Disease - - - - - - - - 1052 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1052 - Mosaic variegated aneuploidy syndrome - - Malformation syndrome - - - - - - - - 3103 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3103 - Roberts syndrome - - Malformation syndrome - - - - - - - - 3472 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3472 - Yunis-Varon syndrome - - Malformation syndrome - - - - - - - - 2470 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2470 - Matthew-Wood syndrome - - Malformation syndrome - - - - - - - - 2209 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2209 - Maternal phenylketonuria syndrome - - Malformation syndrome - - - - - - - - 2792 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2792 - Otofaciocervical syndrome - - Malformation syndrome - - - - - - - - 2662 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2662 - Keipert syndrome - - Malformation syndrome - - - - - - - - 1438 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1438 - Ring chromosome 10 syndrome - - Malformation syndrome - - - - - - - - 1532 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1532 - Gómez-López-Hernández 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 - - - - - - - - 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 - - - - - - - - 2324 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2324 - Osteopenia-intellectual disability-sparse hair 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 - - - - - - - - 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 - - - - - - - - 94063 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94063 - 12q14 microdeletion syndrome - - 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 - - - - - - - - 1520 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1520 - Craniofrontonasal dysplasia - - Malformation syndrome - - - - - - - - 2750 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2750 - Orofaciodigital syndrome type 1 - - Malformation syndrome - - - - - - - - 3063 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3063 - X-linked intellectual disability, Snyder type - - Disease - - - - - - - - 3417 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3417 - Van den Bosch syndrome - - Malformation syndrome - - - - - - - - 3459 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3459 - Wilson-Turner 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 - - - - - - - - 530983 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=530983 - Lamb-Shaffer syndrome - - Disease - - - - - - 313884 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313884 - 12p12.1 microdeletion syndrome - - Clinical subtype - - - - - - - - 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 - - - - - - - - - - 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 - - - - - - - - 648 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=648 - Noonan syndrome - - Malformation syndrome - - - - - - - - 915 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=915 - Aarskog-Scott syndrome - - Malformation syndrome - - - - - - - - 821 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=821 - Sotos syndrome - - Disease - - - - - - - - 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 - - - - - - - - 1358 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1358 - Carey-Fineman-Ziter 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 - - - - - - - - 1517 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1517 - Cantú syndrome - - Malformation syndrome - - - - - - - - 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 - - - - - - - - 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 - - - - - - - - 561 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=561 - Marshall-Smith syndrome - - Malformation syndrome - - - - - - - - 110 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=110 - Bardet-Biedl syndrome - - Disease - - - - - - - - 353298 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353298 - Roifman 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 - - - - - - - - 611247 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=611247 - Pontocerebellar hypoplasia type 11 - - 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 - - - - - - - - 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 - - - - - - - - 611201 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=611201 - Oculogastrointestinal-neurodevelopmental 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 - - - - - - - - 603689 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=603689 - KLHL7-related Bohring-Opitz-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 - - - - - - - - - - 10 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=10 - 48,XXYY syndrome - - 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 - - - - - - - - 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 - - - - - - - - - - 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 - - - - - - - - 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 - - - - - - - - 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 - - - - - - - - 597738 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=597738 - Luscan-Lumish 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 - - - - - - - - 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 - - - - - - - - 2266 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2266 - Hypotrichosis-intellectual disability, Lopes type - - 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 - - - - - - - - - - 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 - - - - - - - - - - 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 - - - - - - - - 3052 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3052 - X-linked intellectual disability-seizures-psoriasis 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 - - - - - - - - 1553 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1553 - Curry-Jones syndrome - - 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 - - - - - - - - 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 - - - - - - - - - - 912 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=912 - Zellweger syndrome - - Disease - - - - - - - - 1827 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1827 - Acromelic frontonasal dysplasia - - Malformation syndrome - - - - - - - - 1667 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1667 - Wolcott-Rallison syndrome - - Disease - - - - - - - - 1458 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1458 - CODAS syndrome - - Malformation syndrome - - - - - - - - 2886 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2886 - TARP 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 - - - - - - - - 684742 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=684742 - 2q13 microdeletion syndrome - - 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 - - - - - - - - 684226 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=684226 - Intellectual disability-hypotonia-facial dysmorphism-macrocephaly 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 - - - - - - - - 619233 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=619233 - Hereditary persistence of fetal hemoglobin-intellectual disability 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 - - - - - - - - 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 - - - - - - - - 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 - - - - - - - - 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 - - - - - - - - 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 - - - - - - - - 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 - - - - - - - - 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 - - - - - - - - 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 - - - - - - - - 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 - - - - - - - - - - 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 - - - - - - - - 656135 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=656135 - Intellectual disability-cupped ears syndrome - - 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 - - - - - - - - 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 - - - - - - - - 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 - - - - - - - - 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 - - - - - - - - 659387 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=659387 - PRC-2 complex-related overgrowth spectrum - - Clinical group - - - - - - 659396 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=659396 - Cohen-Gibson syndrome - - Malformation syndrome - - - - - - - - 3447 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3447 - Weaver 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 - - - - - - - - 950 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=950 - Acrodysostosis - - 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 - - - - - - - - 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 - - - - - - - - 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 - - - - - - - - - - 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 - - - - - - - - 1436 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1436 - X-linked skeletal dysplasia-intellectual disability syndrome - - Malformation syndrome - - - - - - - - 2339 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2339 - Keratosis follicularis-dwarfism-cerebral atrophy syndrome - - Malformation syndrome - - - - - - - - 3454 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3454 - Wieacker-Wolff 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 - - - - - - - - - - 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 - - - - - - - - 1300 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1300 - Autosomal dominant popliteal pterygium syndrome - - Malformation syndrome - - - - - - - - 1454 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1454 - Joubert syndrome with hepatic defect - - Disease - - - - - - - - 3138 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3138 - Ulnar-mammary syndrome - - Malformation syndrome - - - - - - - - 3163 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3163 - SHORT syndrome - - Malformation syndrome - - - - - - - - 2538 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2538 - Microgastria-limb reduction defect 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 - - - - - - - - 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 - - - - - - - - 2135 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2135 - Cutaneous mastocytosis-deafness-microtia syndrome - - 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 - - - - - - - - 1393 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1393 - Cerebrocostomandibular syndrome - - 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 - - - - - - - - 672 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=672 - Pallister-Hall syndrome - - Malformation syndrome - - - - - - - - 2514 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2514 - Autosomal dominant primary microcephaly - - Etiological subtype - - - - - - - - 2557 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2557 - Mietens syndrome - - Malformation syndrome - - - - - - - - 798 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=798 - Schinzel-Giedion syndrome - - Malformation syndrome - - - - - - - - - - 102285 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=102285 - Multiple congenital anomalies/dysmorphic syndrome without intellectual disability - - Category - - - - - - 71271 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71271 - Split hand-split foot-deafness 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 - - - - - - - - 2062 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2062 - Progressive non-infectious anterior vertebral fusion - - 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 - - - - - - - - 1655 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1655 - Müllerian derivatives-lymphangiectasia-polydactyly 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 - - - - - - - - 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 - - - - - - - - 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 - - - - - - - - 887 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=887 - VACTERL/VATER association - - 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 - - - - - - - - 488232 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488232 - Split-foot malformation-mesoaxial polydactyly 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 - - - - - - - - 2717 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2717 - Oculotrichoanal 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 - - - - - - - - 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 - - - - - - - - 2835 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2835 - Pectus excavatum-macrocephaly-dysplastic nails 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 - - - - - - - - 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 - - - - - - - - 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 - - - - - - - - 2793 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2793 - Otoonychoperoneal syndrome - - Malformation syndrome - - - - - - - - 496751 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=496751 - EVEN-plus 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 - - - - - - - - 685067 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=685067 - Hypodontia-scalp hypotrichosis-facial dysmorphism 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 - - - - - - - - 688581 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=688581 - Midface hypoplasia-hearing impairment-elliptocytosis-nephrocalcinosis 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 - - - - - - - - 647811 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=647811 - Cardiac-urogenital 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 - - - - - - - - 567502 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=567502 - B-cell immunodeficiency-limb anomaly-urogenital malformation 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 - - - - - - - - 3191 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3191 - Subaortic stenosis-short stature 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 - - - - - - - - - - - - 68378 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=68378 - Congenital limb malformation - - Category - - - - - - 109009 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=109009 - Syndrome with limb malformations as a major feature - - Category - - - - - - 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 - - - - - - - - 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 - - - - - - - - 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 - - - - - - - - 1275 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1275 - Brachydactyly-elbow wrist dysplasia syndrome - - Malformation syndrome - - - - - - - - 93388 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93388 - Brachydactyly type A1 - - 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 - - - - - - - - - - 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 - - - - - - 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 - - - - - - - - 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 - - - - - - - - 1465 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1465 - Coffin-Siris syndrome - - Malformation syndrome - - - - - - - - 3433 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3433 - Microcephaly-brachydactyly-kyphoscoliosis 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 - - - - - - - - 1278 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1278 - Brachydactyly-preaxial hallux varus syndrome - - Malformation syndrome - - - - - - - - 2956 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2956 - Acrodysplasia scoliosis - - Malformation syndrome - - - - - - - - 1292 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1292 - Brachymorphism-onychodysplasia-dysphalangism 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 - - - - - - - - 52056 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52056 - Ulnar/fibula ray defect-brachydactyly 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 - - - - - - - - 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 - - - - - - - - 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 - - - - - - - - - - 974 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=974 - Adams-Oliver 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 - - - - - - - - 65743 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65743 - Autosomal dominant multiple pterygium 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 - - - - - - - - - - 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 - - - - - - - - 488586 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488586 - Congenital amyoplasia - - 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 - - - - - - - - 210163 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210163 - Congenital lethal myopathy, Compton-North type - - Disease - - - - - - - - 994 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=994 - Fetal akinesia deformation sequence - - Malformation syndrome - - - - - - - - 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 - - - - - - - - - - 294955 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294955 - Syndrome with limb reduction defects - - Category - - - - - - 488232 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488232 - Split-foot malformation-mesoaxial polydactyly 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 - - - - - - - - 1354 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1354 - Heart defects-limb shortening 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 - - - - - - - - 392 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=392 - Holt-Oram 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 - - - - - - - - 3312 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3312 - Thalidomide embryopathy - - 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 - - - - - - - - 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 - - - - - - - - 1891 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1891 - Intellectual disability-spasticity-ectrodactyly syndrome - - Malformation syndrome - - - - - - - - 2492 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2492 - FATCO 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 - - - - - - - - 221139 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221139 - Combined immunodeficiency with facio-oculo-skeletal anomalies - - Disease - - - - - - - - 1326 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1326 - Camptodactyly syndrome, Guadalajara type 2 - - Malformation syndrome - - - - - - - - - - 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 - - - - - - - - - - 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 - - - - - - - - - - 465824 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=465824 - Fetal encasement 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 - - - - - - - - - - 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 - - - - - - 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 - - - - - - - - 498491 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498491 - Non-syndromic complete hemimelia - - Category - - - - - - 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 - - - - - - - - 294979 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294979 - Isolated absence of both forearm and hand - - 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 - - - - - - - - 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 - - - - - - 295004 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295004 - Central polydactyly - - Morphological anomaly - - - - - - - - 498494 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498494 - Mirror-image 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 - - - - - - - - - - 295000 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295000 - Amniotic band syndrome - - Malformation syndrome - - - - - - - - - - 68419 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=68419 - Rare vascular anomaly - - Category - - - - - - 458844 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=458844 - Rare vascular malformation of major vessels - - Category - - - - - - 98724 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98724 - Congenital anomaly of the great arteries - - Category - - - - - - 1132 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1132 - Aortic arch defects - - Category - - - - - - 99075 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99075 - Encircling double aortic arch - - Morphological anomaly - - - - - - - - 99076 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99076 - Persistent fifth aortic arch - - Morphological anomaly - - - - - - - - 99077 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99077 - Kommerell diverticulum - - Morphological anomaly - - - - - - - - 99078 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99078 - Neuhauser anomaly - - Morphological anomaly - - - - - - - - 99079 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99079 - Cervical aortic arch - - Morphological anomaly - - - - - - - - 99081 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99081 - Right aortic arch - - Morphological anomaly - - - - - - - - 99082 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99082 - Dysphagia lusoria - - Morphological anomaly - - - - - - - - - - 185 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=185 - Scimitar syndrome - - Malformation syndrome - - - - - - - - 95485 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95485 - Arterial duct anomaly - - Category - - - - - - 95486 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95486 - Premature closure of the arterial duct - - Morphological anomaly - - - - - - - - 99072 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99072 - Congenital patent ductus arteriosus aneurysm - - Morphological anomaly - - - - - - - - 466729 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466729 - Familial patent arterial duct - - Morphological anomaly - - - - - - - - - - 98718 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98718 - Aortic malformation - - Category - - - - - - 3193 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3193 - Supravalvular aortic stenosis - - Morphological anomaly - - - - - - - - 1457 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1457 - Aorta coarctation - - Morphological anomaly - - - - - - - - 2299 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2299 - Aortic arch interruption - - Morphological anomaly - - - - - - - - 3092 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3092 - Fixed subaortic stenosis - - Morphological anomaly - - - - - - 99051 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99051 - Discrete fixed membranous subaortic stenosis - - Clinical subtype - - - - - - - - 99052 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99052 - Discrete fibromuscular subaortic stenosis - - Clinical subtype - - - - - - - - 99053 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99053 - Tunnel subaortic stenosis - - Clinical subtype - - - - - - - - - - 3093 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3093 - Congenital aortic valve stenosis - - Morphological anomaly - - - - - - 95448 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95448 - Congenital aortic valve atresia - - Clinical subtype - - - - - - - - 101043 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101043 - Congenital aortic valve dysplasia - - Clinical subtype - - - - - - - - - - 402075 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=402075 - Familial bicuspid aortic valve - - Morphological anomaly - - - - - - - - 1456 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1456 - Middle aortic syndrome - - Morphological anomaly - - - - - - - - 542568 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=542568 - Quadricuspid aortic valve - - Morphological anomaly - - - - - - - - - - 98719 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98719 - Pulmonary artery or pulmonary branch anomaly - - Category - - - - - - 1208 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1208 - Pulmonary atresia-intact ventricular septum syndrome - - Morphological anomaly - - - - - - - - 982 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=982 - Pulmonary valve agenesis - - Clinical group - - - - - - 99048 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99048 - Pulmonary valve agenesis-intact ventricular septum-persistent ductus arteriosus syndrome - - Malformation syndrome - - - - - - - - 101206 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101206 - Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome - - Malformation syndrome - - - - - - - - - - 980 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=980 - Absence of the pulmonary artery - - Morphological anomaly - - - - - - - - 3189 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3189 - Congenital pulmonary valvar stenosis - - Morphological anomaly - - - - - - 3190 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3190 - Subpulmonary stenosis - - Clinical subtype - - - - - - - - 3192 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3192 - Supravalvular pulmonary stenosis - - Clinical subtype - - - - - - - - 99054 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99054 - Valvular pulmonary stenosis - - Clinical subtype - - - - - - - - - - 1676 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1676 - Idiopathic pulmonary artery dilatation - - Disease - - - - - - - - 99083 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99083 - Pulmonary artery hypoplasia - - Morphological anomaly - - - - - - - - 99084 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99084 - Peripheral pulmonary stenosis - - Morphological anomaly - - - - - - - - - - 98725 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98725 - Ascending aorta anomaly - - Category - - - - - - 1054 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1054 - Aneurysm of sinus of Valsalva - - Morphological anomaly - - - - - - - - 3093 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3093 - Congenital aortic valve stenosis - - Morphological anomaly - - - - - - 95448 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95448 - Congenital aortic valve atresia - - Clinical subtype - - - - - - - - 101043 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101043 - Congenital aortic valve dysplasia - - Clinical subtype - - - - - - - - - - 3400 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3400 - Aorto-ventricular tunnel - - Morphological anomaly - - - - - - 99070 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99070 - Aorto-right ventricular tunnel - - Clinical subtype - - - - - - - - 99071 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99071 - Aorto-left ventricular tunnel - - Clinical subtype - - - - - - - - - - - - - - 363189 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363189 - Congenital anomaly of the great veins - - Category - - - - - - 3091 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3091 - Congenital systemic veins anomaly - - Category - - - - - - 95498 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95498 - Congenital anomaly of superior vena cava - - Category - - - - - - 652668 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=652668 - Primary superior vena cava aneurysm - - Malformation syndrome - - - - - - - - 99109 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99109 - Persistent left superior vena cava connecting through coronary sinus to left-sided atrium - - Morphological anomaly - - - - - - - - 99110 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99110 - Right superior vena cava connecting to left-sided atrium - - Morphological anomaly - - - - - - - - 99111 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99111 - Persistent left superior vena cava connecting to the roof of left-sided atrium - - Morphological anomaly - - - - - - - - 99112 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99112 - Absence of innominate vein - - Morphological anomaly - - - - - - - - 99113 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99113 - Subaortic course of innominate vein - - Morphological anomaly - - - - - - - - 99114 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99114 - Agenesis of the superior vena cava - - Morphological anomaly - - - - - - - - - - 95499 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95499 - Congenital anomaly of the inferior vena cava - - Category - - - - - - 652678 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=652678 - Primary inferior vena cava aneurysm - - Morphological anomaly - - - - - - - - 99119 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99119 - Right inferior vena cava connecting to left-sided atrium - - Morphological anomaly - - - - - - - - 99120 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99120 - Persistent eustachian valve - - Morphological anomaly - - - - - - - - 99121 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99121 - Azygos continuation of the inferior vena cava - - Morphological anomaly - - - - - - - - 99122 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99122 - Congenital stenosis of the inferior vena cava - - Morphological anomaly - - - - - - - - 99123 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99123 - Inferior vena cava interruption without azygos continuation - - Morphological anomaly - - - - - - - - - - 95500 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95500 - Congenital anomaly of the coronary sinus - - Category - - - - - - 99117 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99117 - Coronary sinus stenosis - - Morphological anomaly - - - - - - - - 99118 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99118 - Coronary sinus atresia - - Morphological anomaly - - - - - - - - - - 95507 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95507 - Congenital anomaly of hepatic vein - - Morphological anomaly - - - - - - - - 480531 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480531 - Congenital portosystemic shunt - - Morphological anomaly - - - - - - - - - - 98729 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98729 - Congenital pulmonary veins anomaly - - Category - - - - - - 3090 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3090 - Congenital pulmonary venous return anomaly - - Clinical group - - - - - - 99124 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99124 - Congenital partial pulmonary venous return anomaly - - Morphological anomaly - - - - - - - - 99125 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99125 - Congenital total pulmonary venous return anomaly - - Morphological anomaly - - - - - - - - - - 185 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=185 - Scimitar syndrome - - Malformation syndrome - - - - - - - - 3188 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3188 - Congenital pulmonary veins atresia or stenosis - - Clinical group - - - - - - 99126 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99126 - Congenital pulmonary vein atresia - - Morphological anomaly - - - - - - - - 642071 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642071 - Primary pulmonary vein stenosis - - Disease - - - - - - - - - - - - - - 981 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=981 - Internal carotid absence - - Morphological anomaly - - - - - - - - 97598 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97598 - Congenital renal artery stenosis - - Disease - - - - - - - - 698260 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=698260 - Carotid web - - Disease - - - - - - - - 494424 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=494424 - Extracranial carotid artery aneurysm - - Morphological anomaly - - - - - - - - - - 458837 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=458837 - Rare combined vascular malformation - - Clinical group - - - - - - - - 211277 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=211277 - Complex vascular malformation with associated anomalies - - Category - - - - - - 168984 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168984 - CLAPO syndrome - - Malformation syndrome - - - - - - - - 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 - - - - - - - - 2346 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2346 - Angioosteohypertrophic syndrome - - Clinical group - - - - - - 90307 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90307 - Parkes Weber syndrome - - Disease - - - - - - - - 90308 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90308 - Capillary-lymphatic-venous malformation with segmental distribution - - Disease - - - - - - - - - - 75508 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75508 - Angioosteohypotrophic syndrome - - Malformation syndrome - - - - - - - - 109 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=109 - Bannayan-Riley-Ruvalcaba syndrome - - Clinical subtype - - - - - - - - 86914 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86914 - Lymphedema-cerebral arteriovenous anomaly-primary pulmonary hypertension syndrome - - Malformation syndrome - - - - - - - - 744 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=744 - Proteus syndrome - - Malformation syndrome - - - - - - - - 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 - - - - - - - - 699683 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699683 - Fibro-adipose vascular anomaly - - Disease - - - - - - - - - - 211237 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=211237 - Rare vascular tumor - - Category - - - - - - 673466 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=673466 - Malignant vascular tumor - - Clinical group - - - - - - 157791 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157791 - Epithelioid hemangioendothelioma - - Disease - - - - - - - - 263413 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263413 - Angiosarcoma - - Disease - - - - - - - - - - 673470 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=673470 - Benign vascular tumor - - Clinical group - - - - - - 1062 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1062 - Hereditary neurocutaneous malformation - - Disease - - - - - - - - 1063 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1063 - Tufted angioma - - Disease - - - - - - - - 71213 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71213 - Retinal capillary malformation - - Disease - - - - - - - - 210584 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210584 - Spindle cell hemangioma - - Disease - - - - - - - - 458775 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=458775 - Congenital hemangioma - - Clinical group - - - - - - 458785 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=458785 - Partially involuting congenital hemangioma - - Disease - - - - - - - - 141184 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141184 - Rapidly involuting congenital hemangioma - - Disease - - - - - - - - 141179 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141179 - Non-involuting congenital hemangioma - - Disease - - - - - - - - - - 675359 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=675359 - Anastomosing haemangioma - - Disease - - - - - - - - 675597 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=675597 - Acquired elastotic haemangioma - - Disease - - - - - - - - 675362 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=675362 - Hobnail hemangioma - - Disease - - - - - - - - 675369 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=675369 - Microvenular haemangioma - - Disease - - - - - - - - 675396 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=675396 - Epithelioid hemangioma - - Disease - - - - - - - - 673543 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=673543 - Papillary hemangioma - - Disease - - - - - - - - 673574 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=673574 - Reactive angioendotheliomatosis - - Disease - - - - - - - - 673568 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=673568 - Eccrine angiomatous hamartoma - - Disease - - - - - - - - 673538 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=673538 - Littoral cell hemangioma of the spleen - - Disease - - - - - - - - 673525 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=673525 - Intravascular papillary endothelial hyperplasia - - Disease - - - - - - - - 210589 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210589 - Rare infantile hemangioma - - Clinical group - - - - - - 2123 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2123 - Multifocal infantile hemangioma with extracutenous involvement - - Disease - - - - - - - - 675380 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=675380 - Isolated segmental infantile hemangioma - - Disease - - - - - - - - 42775 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=42775 - PHACE syndrome - - Malformation syndrome - - - - - - - - 83628 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83628 - LUMBAR syndrome - - Malformation syndrome - - - - - - - - 137935 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137935 - Airway infantile hemangioma - - Disease - - - - - - - - - - - - 673473 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=673473 - Borderline vascular tumor - - Clinical group - - - - - - 2122 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2122 - Kaposiform hemangioendothelioma - - Disease - - - - - - - - 33276 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33276 - Kaposi sarcoma - - Disease - - - - - - - - 458758 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=458758 - Composite hemangioendothelioma - - Disease - - - - - - - - 458763 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=458763 - Retiform hemangioendothelioma - - Disease - - - - - - - - 458768 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=458768 - Papillary intralymphatic angioendothelioma - - Disease - - - - - - - - 673556 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=673556 - Pseudomyogenic hemangioendothelioma - - Disease - - - - - - - - - - - - 211243 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=211243 - Simple vascular malformation - - Category - - - - - - 211247 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=211247 - Rare capillary malformation - - Category - - - - - - 95429 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95429 - Angioma serpiginosum - - Disease - - - - - - - - 624 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=624 - Familial multiple nevi flammei - - Morphological anomaly - - - - - - - - 464318 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464318 - Verrucous hemangioma - - Disease - - - - - - - - 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 - - - - - - - - - - 774 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=774 - Hereditary hemorrhagic telangiectasia - - Disease - - - - - - - - 1556 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1556 - Cutis marmorata telangiectatica congenita - - 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 - - - - - - - - - - - - 211252 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=211252 - Rare venous malformation - - Category - - - - - - 688523 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=688523 - Splenic venous malformation - - Disease - - - - - - - - 221061 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221061 - Familial cerebral cavernous malformation - - Malformation syndrome - - - - - - - - 1059 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1059 - Blue rubber bleb nevus - - Malformation syndrome - - - - - - - - 2451 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2451 - Mucocutaneous venous malformations - - Malformation syndrome - - - - - - - - 83454 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83454 - Glomuvenous malformation - - Malformation syndrome - - - - - - - - 217008 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217008 - Bockenheimer syndrome - - Malformation syndrome - - - - - - - - 140436 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140436 - Primary intraosseous venous malformation - - Disease - - - - - - - - - - 211255 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=211255 - Rare lymphatic system anomaly - - Category - - - - - - 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 - - - - - - - - 569821 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=569821 - Congenital primary lymphedema of Gordon - - 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 - - - - - - - - - - 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 - - - - - - 1414 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1414 - Cholestasis-lymphedema syndrome - - Disease - - - - - - - - 90186 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90186 - Meige disease - - Disease - - - - - - - - 569816 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=569816 - CELSR1-related late-onset primary lymphedema - - Disease - - - - - - - - 568051 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=568051 - GJC2-related late-onset primary lymphedema - - Disease - - - - - - - - 33001 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33001 - Lymphedema-distichiasis syndrome - - Malformation syndrome - - - - - - - - 99141 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99141 - Lymphedema-posterior choanal atresia syndrome - - Malformation syndrome - - - - - - - - - - - - 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 - - - - - - - - 1116 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1116 - Aplasia cutis congenita-intestinal lymphangiectasia syndrome - - Disease - - - - - - - - 2136 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2136 - Hennekam syndrome - - Malformation syndrome - - - - - - - - 568065 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=568065 - EPHB4-related lymphatic-related hydrops fetalis - - 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 - - - - - - - - 568056 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=568056 - Warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome - - Disease - - - - - - - - 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 - - - - - - - - 86915 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86915 - Lymphedema-atrial septal defects-facial changes 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 - - - - - - 487796 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=487796 - Takenouchi-Kosaki syndrome - - Malformation syndrome - - - - - - - - 324 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324 - Fabry disease - - Disease - - - - - - - - 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 - - - - - - - - - - 742 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=742 - Prolidase deficiency - - Disease - - - - - - - - 1340 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1340 - Cardiofaciocutaneous 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 - - - - - - - - 69088 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69088 - Hypohidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome - - Disease - - - - - - - - 2710 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2710 - Oculodentodigital dysplasia - - Malformation syndrome - - - - - - - - 99807 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99807 - PEHO-like syndrome - - Disease - - - - - - - - 2836 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2836 - PEHO syndrome - - Disease - - - - - - - - 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 - - - - - - - - - - 805 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=805 - Tuberous sclerosis complex - - Disease - - - - - - - - - - - - 2415 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2415 - Rare lymphatic malformation - - Category - - - - - - 458833 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=458833 - Common cystic lymphatic malformation - - Clinical group - - - - - - 79489 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79489 - Macrocystic lymphatic malformation - - Malformation syndrome - - - - - - - - 79490 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79490 - Microcystic lymphatic malformation - - Malformation syndrome - - - - - - - - 458792 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=458792 - Mixed cystic lymphatic malformation - - Malformation syndrome - - - - - - - - - - 464321 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464321 - Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome - - Disease - - - - - - - - 141209 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141209 - Diffuse lymphatic malformation - - Malformation syndrome - - - - - - - - 464329 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464329 - Kaposiform lymphangiomatosis - - Disease - - - - - - - - 73 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73 - Gorham-Stout disease - - Malformation syndrome - - - - - - - - 99141 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99141 - Lymphedema-posterior choanal atresia syndrome - - Malformation syndrome - - - - - - - - - - - - 211266 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=211266 - Rare arteriovenous malformation - - Category - - - - - - 692271 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=692271 - Cerebral proliferative angiopathy - - Disease - - - - - - - - 693855 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=693855 - Visceral arteriovenous malformation - - Clinical group - - - - - - 693846 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=693846 - Hepatic arteriovenous malformation - - Malformation syndrome - - - - - - - - 693839 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=693839 - Renal arteriovenous malformation - - Malformation syndrome - - - - - - - - 693832 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=693832 - Gastrointestinal tract arteriovenous malformation - - Malformation syndrome - - - - - - - - 693863 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=693863 - Splenic arteriovenous malformation - - Malformation syndrome - - - - - - - - 693815 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=693815 - Uterine arteriovenous malformation - - Malformation syndrome - - - - - - - - 693826 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=693826 - Pancreatic arteriovenous malformation - - Malformation syndrome - - - - - - - - 693869 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=693869 - Gallblader arteriovenous malformation - - Malformation syndrome - - - - - - - - 693872 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=693872 - Urinary tract arteriovenous malformation - - Malformation syndrome - - - - - - - - - - 2038 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2038 - Pulmonary arteriovenous malformation - - Morphological anomaly - - - - - - - - 46724 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=46724 - Cerebral arteriovenous malformation - - Morphological anomaly - - - - - - - - 1053 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1053 - Vein of Galen aneurysmal malformation - - Morphological anomaly - - - - - - - - 97339 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97339 - Dural sinus malformation - - Morphological anomaly - - - - - - - - 53721 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53721 - Spinal arteriovenous metameric syndrome - - Malformation syndrome - - - - - - - - 79093 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79093 - Foix-Alajouanine syndrome - - Malformation syndrome - - - - - - - - 141189 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141189 - Cerebrofacial arteriovenous metameric syndrome - - Malformation syndrome - - - - - - 53719 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53719 - Cerebrofacial arteriovenous metameric syndrome type 2 - - Clinical subtype - - - - - - - - 141194 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141194 - Cerebrofacial arteriovenous metameric syndrome type 1 - - Clinical subtype - - - - - - - - 141199 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141199 - Cerebrofacial arteriovenous metameric syndrome type 3 - - Clinical subtype - - - - - - - - - - 156230 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156230 - Facial arteriovenous malformation - - Clinical group - - - - - - 141168 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141168 - Frontonasal arteriovenous malformation - - Malformation syndrome - - - - - - - - 141171 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141171 - Maxillary arteriovenous malformation - - Malformation syndrome - - - - - - - - 141174 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141174 - Mandibular arteriovenous malformation - - Malformation syndrome - - - - - - - - - - - - 98731 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98731 - Congenital arteriovenous fistula - - Category - - - - - - 2039 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2039 - Congenital systemic arteriovenous fistula - - Morphological anomaly - - - - - - - - 694228 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=694228 - Congenital intrahepatic arterioportal fistula - - Malformation syndrome - - - - - - - - - - - - - - 52662 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52662 - Rare teratologic disease - - Category - - - - - - 232035 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=232035 - Infectious embryofetopathy - - Category - - - - - - 295 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295 - Fetal parvovirus syndrome - - Malformation syndrome - - - - - - - - 290 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=290 - Congenital rubella syndrome - - Disease - - - - - - - - 858 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=858 - Congenital toxoplasmosis - - Disease - - - - - - - - 291 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=291 - Congenital varicella syndrome - - Disease - - - - - - - - 293 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293 - Congenital herpes simplex virus infection - - Disease - - - - - - - - 294 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294 - Fetal cytomegalovirus syndrome - - Disease - - - - - - - - 292 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=292 - Congenital enterovirus infection - - Disease - - - - - - - - 70596 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70596 - Congenital Epstein-Barr virus infection - - Disease - - - - - - - - 499009 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=499009 - Congenital syphilis - - Disease - - - - - - - - - - 251529 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251529 - Toxic or drug-related embryofetopathy - - Category - - - - - - 485358 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=485358 - Propylthiouracil embryofetopathy - - Malformation syndrome - - - - - - - - 1915 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1915 - Fetal alcohol syndrome - - Malformation syndrome - - - - - - - - 1908 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1908 - Aminopterin/methotrexate embryofetopathy - - Malformation syndrome - - - - - - - - 1909 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1909 - Indomethacin embryofetopathy - - Malformation syndrome - - - - - - - - 1910 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1910 - Fetal iodine syndrome - - Malformation syndrome - - - - - - - - 1911 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1911 - Cocaine embryofetopathy - - Malformation syndrome - - - - - - - - 1918 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1918 - Fetal minoxidil syndrome - - Malformation syndrome - - - - - - - - 1914 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1914 - Vitamin K antagonist embryofetopathy - - Malformation syndrome - - - - - - - - 1916 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1916 - Diethylstilbestrol syndrome - - Malformation syndrome - - - - - - - - 1917 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1917 - Fetal methylmercury syndrome - - Malformation syndrome - - - - - - - - 1920 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1920 - Toluene embryopathy - - Malformation syndrome - - - - - - - - 1923 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1923 - Methimazole embryofetopathy - - Malformation syndrome - - - - - - - - 2305 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2305 - Isotretinoin syndrome - - Malformation syndrome - - - - - - - - 3312 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3312 - Thalidomide embryopathy - - Malformation syndrome - - - - - - - - 40366 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=40366 - Acitretin/etretinate embryopathy - - Malformation syndrome - - - - - - - - 268249 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268249 - Mycophenolate mofetil embryopathy - - Malformation syndrome - - - - - - - - 370068 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370068 - Fetal anticonvulsant syndrome - - Clinical group - - - - - - 1906 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1906 - Fetal valproate spectrum disorder - - Malformation syndrome - - - - - - - - 1912 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1912 - Fetal hydantoin syndrome - - Malformation syndrome - - - - - - - - 1913 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1913 - Fetal trimethadione syndrome - - Malformation syndrome - - - - - - - - 1919 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1919 - Phenobarbital embryopathy - - Malformation syndrome - - - - - - - - 370076 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370076 - Fetal carbamazepine syndrome - - Malformation syndrome - - - - - - - - - - - - 251535 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251535 - Maternal disease-related embryofetopathy - - Category - - - - - - 1926 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1926 - Diabetic embryopathy - - Malformation syndrome - - - - - - - - 2209 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2209 - Maternal phenylketonuria syndrome - - Malformation syndrome - - - - - - - - 2216 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2216 - Maternal hyperthermia-induced birth defects - - Malformation syndrome - - - - - - - - - - - - 83001 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83001 - Urogenital tract malformation - - Category - - - - - - 165704 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=165704 - Non-syndromic urogenital tract malformation - - Category - - - - - - 182117 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=182117 - Non-syndromic urogenital tract malformation of female - - Category - - - - - - 180065 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180065 - Non-syndromic uterovaginal malformation - - Category - - - - - - 1916 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1916 - Diethylstilbestrol syndrome - - Malformation syndrome - - - - - - - - 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 - - - - - - - - - - - - 180122 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180122 - Septate uterus - - Clinical group - - - - - - 180126 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180126 - Complete septate uterus - - Morphological anomaly - - - - - - - - 180129 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180129 - Partial septate uterus - - Morphological anomaly - - - - - - - - - - 180134 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180134 - Bicornuate uterus - - Clinical group - - - - - - 180086 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180086 - Didelphys uterus - - Morphological anomaly - - - - - - 180106 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180106 - Bicervical bicornuate uterus and blind hemivagina - - Clinical subtype - - - - - - - - 180111 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180111 - Bicervical bicornuate uterus with patent cervix and vagina - - Clinical subtype - - - - - - - - - - 180114 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180114 - Unicervical bicornuate uterus - - Morphological anomaly - - - - - - - - - - 180139 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180139 - Uterine hypoplasia - - Morphological anomaly - - - - - - - - 180142 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180142 - Absence of uterine body - - Morphological anomaly - - - - - - - - 180145 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180145 - Uterine cervical aplasia and agenesis - - Morphological anomaly - - - - - - - - - - 180151 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180151 - Rare vaginal malformation - - Category - - - - - - 65681 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65681 - Vaginal atresia - - Morphological anomaly - - - - - - - - 96269 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96269 - Isolated partial vaginal agenesis - - Morphological anomaly - - - - - - - - 180154 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180154 - Septate vagina - - Morphological anomaly - - - - - - 180157 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180157 - Longitudinal vaginal septum - - Clinical subtype - - - - - - - - 180160 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180160 - Transverse vaginal septum - - Clinical subtype - - - - - - - - - - - - 603515 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=603515 - Isolated female hypospadias - - Morphological anomaly - - - - - - - - 647794 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=647794 - Isolated persistent urogenital sinus - - Morphological anomaly - - - - - - - - - - 182121 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=182121 - Non-syndromic urogenital tract malformation of male - - Category - - - - - - 48 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=48 - Congenital bilateral absence of vas deferens - - Morphological anomaly - - - - - - - - 2842 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2842 - Penoscrotal transposition - - Morphological anomaly - - - - - - - - 49 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=49 - Penile agenesis - - Morphological anomaly - - - - - - - - 227 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=227 - Diphallia - - Morphological anomaly - - - - - - - - 95706 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95706 - Non-syndromic posterior hypospadias - - Morphological anomaly - - - - - - - - 95707 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95707 - Idiopathic isolated micropenis - - Morphological anomaly - - - - - - - - 696897 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=696897 - Congenital megaprepuce - - Morphological anomaly - - - - - - - - 495879 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=495879 - Congenital agenesis of the scrotum - - Morphological anomaly - - - - - - - - - - 182124 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=182124 - Non-syndromic urogenital tract malformation of male and female - - Category - - - - - - 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 - - - - - - - - - - 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 - - - - - - - - - - 289365 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289365 - Familial vesicoureteral reflux - - Malformation syndrome - - - - - - - - 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 - - - - - - - - - - 435743 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435743 - Congenital urachal anomaly - - Category - - - - - - 488 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488 - Urachal cyst - - Morphological anomaly - - - - - - - - 431341 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=431341 - Patent urachus - - Morphological anomaly - - - - - - - - 431344 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=431344 - Urachal sinus - - Morphological anomaly - - - - - - - - 431347 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=431347 - Urachal diverticulum - - Morphological anomaly - - - - - - - - - - - - - - 165707 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=165707 - Syndromic urogenital tract malformation - - 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 - - - - - - - - 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 - - - - - - - - - - - - - - 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 - - - - - - - - 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 - - - - - - - - 456298 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=456298 - 1p35.2 microdeletion 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 - - - - - - - - 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 - - - - - - - - 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 - - - - - - - - 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 - - - - - - - - 90650 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90650 - Otopalatodigital syndrome type 1 - - 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 - - - - - - - - 2838 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2838 - Renal caliceal diverticuli-deafness 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 - - - - - - - - - - 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 - - - - - - - - 69739 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69739 - Athabaskan brainstem dysgenesis syndrome - - Disease - - - - - - - - 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 - - - - - - - - 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 - - - - - - - - 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 - - - - - - - - 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 - - - - - - - - - - 168569 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168569 - H syndrome - - Malformation syndrome - - - - - - - - 324321 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324321 - Sinoatrial node dysfunction and deafness - - Disease - - - - - - - - 363396 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363396 - High myopia-sensorineural deafness syndrome - - Disease - - - - - - - - 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 - - - - - - - - - - 90771 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90771 - Difference of sex development - - Category - - - - - - 2982 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2982 - 46,XX difference of sex development - - Category - - - - - - 98078 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98078 - 46,XX difference of sex development induced by androgens excess - - 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 - - - - - - - - - - 91144 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91144 - 46,XX difference of sex development induced by maternal-derived androgen - - Category - - - - - - 325093 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325093 - 46,XX difference of sex development induced by endogenous maternal-derived androgen - - Clinical group - - - - - - - - 325099 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325099 - 46,XX difference of sex development induced by exogenous maternal-derived androgen - - Clinical group - - - - - - - - - - 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 - - - - - - - - - - - - 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 - - - - - - - - - - 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 - - - - - - - - - - - - 98085 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98085 - 46,XY difference of sex development - - Category - - - - - - 49 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=49 - Penile agenesis - - Morphological anomaly - - - - - - - - 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 - - - - - - - - - - 325351 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325351 - 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 - - - - - - - - - - 2856 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2856 - Persistent Müllerian duct syndrome - - Malformation syndrome - - - - - - - - 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 - - - - - - - - - - - - 325537 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325537 - 46,XY difference of sex development induced by maternal exposure to endocrine disruptors - - 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 - - - - - - - - - - - - 647916 - http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=647916 - Conjoined twins - - Malformation syndrome - - - - - - - - - - - + + + + + Creative Commons Attribution 4.0 International + CC-BY-4.0 + https://creativecommons.org/licenses/by/4.0/legalcode + + + + + 156268 + Orphanet classification of rare developmental anomalies during embryogenesis + + + + 93890 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93890 + Rare developmental defect during embryogenesis + + Category + + + + + + 1041 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1041 + Hydrops fetalis + + Malformation syndrome + + + + + + 363999 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363999 + Non-immune hydrops fetalis + + Clinical subtype + + + + + + + + 364013 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=364013 + Immune hydrops fetalis + + Clinical subtype + + + + + + + + + + 93545 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93545 + Renal or urinary tract malformation + + Category + + + + + + 93546 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93546 + 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 + + + + + + + + + + 3033 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3033 + Renal tubular dysgenesis + + Malformation syndrome + + + + + + 97367 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97367 + Renal tubular dysgenesis due to twin-twin transfusion + + Etiological subtype + + + + + + + + 97368 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97368 + Drug-related renal tubular dysgenesis + + Etiological subtype + + + + + + + + 97369 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97369 + Renal tubular dysgenesis of genetic origin + + Etiological subtype + + + + + + + + + + 1309 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1309 + Medullary sponge kidney + + Morphological anomaly + + + + + + + + 2260 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2260 + Oligomeganephronia + + 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 + + + + + + + + + + 93109 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93109 + Congenital megacalycosis + + Morphological anomaly + + + + + + 93176 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93176 + Unilateral congenital megacalycosis + + Clinical subtype + + + + + + + + 93177 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93177 + Congenital bilateral megacalycosis + + Clinical subtype + + + + + + + + + + 238637 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238637 + Megacystis-megaureter syndrome + + Disease + + + + + + + + 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 + + + + + + + + + + 435743 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435743 + Congenital urachal anomaly + + Category + + + + + + 488 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488 + Urachal cyst + + Morphological anomaly + + + + + + + + 431341 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=431341 + Patent urachus + + Morphological anomaly + + + + + + + + 431344 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=431344 + Urachal sinus + + Morphological anomaly + + + + + + + + 431347 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=431347 + Urachal diverticulum + + Morphological anomaly + + + + + + + + + + 289365 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289365 + Familial vesicoureteral reflux + + Malformation syndrome + + + + + + + + 652528 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=652528 + Supernumerary kidney + + Morphological anomaly + + + + + + + + + + 93547 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93547 + Syndromic renal or urinary 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 + + + + + + + + 567 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=567 + 22q11.2 deletion 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 + + + + + + + + + + 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 + + + + + + + + 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 + + + + + + + + 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 + + + + + + + + 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 + + + + + + + + 3411 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3411 + Double uterus-hemivagina-renal agenesis syndrome + + Malformation syndrome + + + + + + + + 818 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=818 + Smith-Lemli-Opitz 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 + + + + + + + + 439897 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439897 + Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia 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 + + + + + + + + 2111 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2111 + Cystic hamartoma of lung and kidney + + Disease + + + + + + + + 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 + + + + + + + + 71273 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71273 + Renal nutcracker syndrome + + Disease + + + + + + + + 2838 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2838 + Renal caliceal diverticuli-deafness 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 + + + + + + + + 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 + + + + + + + + 521438 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521438 + Congenital vertebral-cardiac-renal anomalies syndrome + + Malformation syndrome + + + + + + + + 3032 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3032 + NPHP3-related Meckel-like 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 + + + + + + + + + + + + 97965 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97965 + Rare surgical cardiac disease + + Category + + + + + + 88991 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88991 + Rare congenital non-syndromic heart malformation + + Category + + + + + + 474347 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=474347 + Rare congenital anomaly of ventricular septum + + Clinical group + + + + + + 99094 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99094 + Laubry-Pezzi syndrome + + Morphological anomaly + + + + + + + + 99092 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99092 + Interventricular septum aneurysm + + Morphological anomaly + + + + + + + + + + 99095 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99095 + Congenital Gerbode defect + + Morphological anomaly + + + + + + + + 2846 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2846 + Congenital pericardium anomaly + + Category + + + + + + 99129 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99129 + Congenital complete agenesis of pericardium + + Morphological anomaly + + + + + + + + 99130 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99130 + Congenital partial agenesis of pericardium + + Morphological anomaly + + + + + + + + 99131 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99131 + Pleuro-pericardial cyst + + Morphological anomaly + + + + + + + + + + 1081 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1081 + Coronary artery congenital malformation + + Category + + + + + + 2041 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2041 + Coronary arterial fistula + + Morphological anomaly + + + + + + + + 95491 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95491 + Congenital coronary artery aneurysm + + Morphological anomaly + + + + + + + + 541478 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=541478 + Anomalous aortic origin of coronary artery + + Clinical group + + + + + + 541443 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=541443 + Anomalous aortic origin of the left coronary artery + + Morphological anomaly + + + + + + + + 541454 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=541454 + Anomalous aortic origin of the right coronary artery + + Morphological anomaly + + + + + + + + + + 541507 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=541507 + Anomalous origin of coronary artery from the pulmonary artery + + Morphological anomaly + + + + + + + + 542822 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=542822 + Anomaly of the coronary ostia + + Clinical group + + + + + + 99087 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99087 + Coronary ostial stenosis or atresia + + Morphological anomaly + + + + + + + + 99089 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99089 + Abnormal number of coronary ostia + + Morphological anomaly + + + + + + + + 99090 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99090 + Malposition of a coronary ostium + + Morphological anomaly + + + + + + + + + + + + 1686 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1686 + Cardiac diverticulum + + Morphological anomaly + + + + + + + + 1461 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1461 + Criss-cross heart + + Morphological anomaly + + + + + + + + 95483 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95483 + Univentricular cardiopathy + + Category + + + + + + 2248 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2248 + Hypoplastic left heart syndrome + + Morphological anomaly + + + + + + + + 1464 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1464 + Univentricular heart + + Morphological anomaly + + + + + + + + 98723 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98723 + Hypoplastic right heart syndrome + + Clinical group + + + + + + 1208 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1208 + Pulmonary atresia-intact ventricular septum syndrome + + Morphological anomaly + + + + + + + + 439 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=439 + Isolated right ventricular hypoplasia + + Morphological anomaly + + + + + + + + + + + + 98716 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98716 + Heart position anomaly + + Category + + + + + + 450 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=450 + Visceral heterotaxy + + Category + + + + + + 1666 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1666 + Dextrocardia + + Morphological anomaly + + + + + + + + 95854 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95854 + Levocardia + + Morphological anomaly + + + + + + + + 97548 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97548 + Right isomerism + + Malformation syndrome + + + + + + + + 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 + + + + + + + + 566862 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=566862 + Left isomerism + + Malformation syndrome + + + + + + + + + + 95443 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95443 + Mesocardia + + Morphological anomaly + + + + + + + + + + 98717 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98717 + Transposition of the great arteries and conotruncal cardiac anomaly + + Category + + + + + + 2445 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2445 + Conotruncal heart malformations + + Category + + + + + + 3303 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3303 + Tetralogy of Fallot + + Malformation syndrome + + + + + + + + 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 + + + + + + + + + + 982 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=982 + Pulmonary valve agenesis + + Clinical group + + + + + + 99048 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99048 + Pulmonary valve agenesis-intact ventricular septum-persistent ductus arteriosus syndrome + + Malformation syndrome + + + + + + + + 101206 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101206 + Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome + + Malformation syndrome + + + + + + + + + + 1138 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1138 + Abnormal origin of the pulmonary artery + + Clinical group + + + + + + 658574 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=658574 + Isolated pulmonary artery sling + + Morphological anomaly + + + + + + + + 99049 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99049 + Pulmonary artery coming from patent ductus arteriosus + + Morphological anomaly + + + + + + + + 99050 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99050 + Abnormal origin of right or left pulmonary artery from the aorta + + Morphological anomaly + + + + + + + + + + 1207 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1207 + Pulmonary atresia with ventricular septal defect + + Morphological anomaly + + + + + + + + 2037 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2037 + Congenital aortopulmonary window + + Morphological anomaly + + + + + + + + 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 + + + + + + + + + + 3427 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3427 + Double outlet left ventricle + + Morphological anomaly + + + + + + + + + + 98718 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98718 + Aortic malformation + + Category + + + + + + 3193 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3193 + Supravalvular aortic stenosis + + Morphological anomaly + + + + + + + + 1457 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1457 + Coarctation of aorta + + Morphological anomaly + + + + + + + + 2299 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2299 + Aortic arch interruption + + Morphological anomaly + + + + + + + + 3092 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3092 + Fixed subaortic stenosis + + Morphological anomaly + + + + + + 99051 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99051 + Discrete fixed membranous subaortic stenosis + + Clinical subtype + + + + + + + + 99052 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99052 + Discrete fibromuscular subaortic stenosis + + Clinical subtype + + + + + + + + 99053 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99053 + Tunnel subaortic stenosis + + Clinical subtype + + + + + + + + + + 3093 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3093 + Congenital aortic valve stenosis + + Morphological anomaly + + + + + + 95448 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95448 + Congenital aortic valve atresia + + Clinical subtype + + + + + + + + 101043 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101043 + Congenital aortic valve dysplasia + + Clinical subtype + + + + + + + + + + 402075 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=402075 + Familial bicuspid aortic valve + + Morphological anomaly + + + + + + + + 1456 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1456 + Middle aortic syndrome + + Morphological anomaly + + + + + + + + 542568 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=542568 + Quadricuspid aortic valve + + Morphological anomaly + + + + + + + + + + 98719 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98719 + Pulmonary artery or pulmonary branch anomaly + + Category + + + + + + 1208 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1208 + Pulmonary atresia-intact ventricular septum syndrome + + Morphological anomaly + + + + + + + + 982 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=982 + Pulmonary valve agenesis + + Clinical group + + + + + + 99048 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99048 + Pulmonary valve agenesis-intact ventricular septum-persistent ductus arteriosus syndrome + + Malformation syndrome + + + + + + + + 101206 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101206 + Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome + + Malformation syndrome + + + + + + + + + + 980 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=980 + Absence of the pulmonary artery + + Morphological anomaly + + + + + + + + 3189 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3189 + Congenital pulmonary valvar stenosis + + Morphological anomaly + + + + + + 3190 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3190 + Subpulmonary stenosis + + Clinical subtype + + + + + + + + 3192 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3192 + Supravalvular pulmonary stenosis + + Clinical subtype + + + + + + + + 99054 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99054 + Valvular pulmonary stenosis + + Clinical subtype + + + + + + + + + + 1676 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1676 + Idiopathic pulmonary artery dilatation + + Disease + + + + + + + + 99083 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99083 + Pulmonary artery hypoplasia + + Morphological anomaly + + + + + + + + 99084 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99084 + Peripheral pulmonary stenosis + + Morphological anomaly + + + + + + + + + + 216675 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216675 + Transposition of the great arteries + + Category + + + + + + 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 + + + + + + + + + + 216694 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=216694 + Congenitally corrected transposition of the great arteries + + Morphological anomaly + + + + + + + + + + + + 98720 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98720 + Atrioventricular valve anomaly + + Category + + + + + + 2447 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2447 + Congenital mitral malformation + + Category + + + + + + 95464 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95464 + Congenital mitral valve insufficiency and/or stenosis + + Category + + + + + + 741 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=741 + Familial mitral valve prolapse + + Morphological anomaly + + + + + + + + 1205 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1205 + Mitral atresia + + Morphological anomaly + + + + + + + + 99057 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99057 + Congenital mitral stenosis + + Morphological anomaly + + + + + + + + 99058 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99058 + Hypoplasia of the mitral valve annulus + + Morphological anomaly + + + + + + + + 99059 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99059 + Congenital supravalvular mitral ring + + Morphological anomaly + + + + + + + + 99060 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99060 + Congenital unguarded mitral orifice + + Morphological anomaly + + + + + + + + 99061 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99061 + Accessory mitral valve tissue + + Morphological anomaly + + + + + + + + 99062 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99062 + Mitral valve agenesis + + Morphological anomaly + + + + + + + + 99063 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99063 + Shone complex + + Malformation syndrome + + + + + + + + 101932 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101932 + Anomaly of the mitral subvalvular apparatus + + Morphological anomaly + + + + + + + + + + 95465 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95465 + Cleft mitral valve + + Morphological anomaly + + + + + + 95474 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95474 + Double-orifice mitral valve + + Clinical subtype + + + + + + + + 99064 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99064 + Straddling and/or overriding mitral valve + + Clinical subtype + + + + + + + + + + + + 98721 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98721 + Congenital tricuspid malformation + + Category + + + + + + 95459 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95459 + Congenital tricuspid stenosis + + Morphological anomaly + + + + + + + + 95461 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95461 + Straddling or overriding tricuspid valve + + Morphological anomaly + + + + + + + + 95462 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95462 + Accessory tricuspid valve tissue + + Morphological anomaly + + + + + + + + 95463 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95463 + Anomaly of the tricuspid subvalvular apparatus + + Category + + + + + + 99055 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99055 + Congenital anomaly of the tricuspid valve chordae + + Morphological anomaly + + + + + + + + 99056 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99056 + Parachute tricuspid valve + + Morphological anomaly + + + + + + + + + + 555874 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=555874 + Congenital tricuspid valve 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 + + + + + + + + 1209 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1209 + Tricuspid atresia + + Morphological anomaly + + + + + + + + 95457 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95457 + Tricuspid valve agenesis + + Morphological anomaly + + + + + + + + + + 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 + + + + + + 576227 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=576227 + Complete atrioventricular septal defect without ventricular hypoplasia + + 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 + + + + + + + + 99068 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99068 + Complete atrioventricular septal defect-tetralogy of Fallot + + Clinical subtype + + + + + + + + + + 1330 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1330 + Partial atrioventricular septal defect + + Morphological anomaly + + + + + + 576232 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=576232 + Partial atrioventricular septal defect with ventricular hypoplasia + + Clinical subtype + + + + + + + + 576235 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=576235 + Partial atrioventricular septal defect without 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 + + + + + + + + + + 555877 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=555877 + FLNA-related X-linked myxomatous valvular dysplasia + + Morphological anomaly + + + + + + + + + + 98724 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98724 + Congenital anomaly of the great arteries + + Category + + + + + + 1132 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1132 + Aortic arch defects + + Category + + + + + + 99075 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99075 + Encircling double aortic arch + + Morphological anomaly + + + + + + + + 99076 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99076 + Persistent fifth aortic arch + + Morphological anomaly + + + + + + + + 99077 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99077 + Kommerell diverticulum + + Morphological anomaly + + + + + + + + 99078 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99078 + Neuhauser anomaly + + Morphological anomaly + + + + + + + + 99079 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99079 + Cervical aortic arch + + Morphological anomaly + + + + + + + + 99081 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99081 + Right aortic arch + + Morphological anomaly + + + + + + + + 99082 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99082 + Dysphagia lusoria + + Morphological anomaly + + + + + + + + + + 185 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=185 + Scimitar syndrome + + Malformation syndrome + + + + + + + + 95485 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95485 + Arterial duct anomaly + + Category + + + + + + 95486 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95486 + Premature closure of the arterial duct + + Morphological anomaly + + + + + + + + 99072 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99072 + Congenital patent ductus arteriosus aneurysm + + Morphological anomaly + + + + + + + + 466729 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466729 + Familial patent arterial duct + + Morphological anomaly + + + + + + + + + + 98718 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98718 + Aortic malformation + + Category + + + + + + 3193 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3193 + Supravalvular aortic stenosis + + Morphological anomaly + + + + + + + + 1457 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1457 + Coarctation of aorta + + Morphological anomaly + + + + + + + + 2299 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2299 + Aortic arch interruption + + Morphological anomaly + + + + + + + + 3092 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3092 + Fixed subaortic stenosis + + Morphological anomaly + + + + + + 99051 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99051 + Discrete fixed membranous subaortic stenosis + + Clinical subtype + + + + + + + + 99052 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99052 + Discrete fibromuscular subaortic stenosis + + Clinical subtype + + + + + + + + 99053 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99053 + Tunnel subaortic stenosis + + Clinical subtype + + + + + + + + + + 3093 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3093 + Congenital aortic valve stenosis + + Morphological anomaly + + + + + + 95448 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95448 + Congenital aortic valve atresia + + Clinical subtype + + + + + + + + 101043 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101043 + Congenital aortic valve dysplasia + + Clinical subtype + + + + + + + + + + 402075 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=402075 + Familial bicuspid aortic valve + + Morphological anomaly + + + + + + + + 1456 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1456 + Middle aortic syndrome + + Morphological anomaly + + + + + + + + 542568 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=542568 + Quadricuspid aortic valve + + Morphological anomaly + + + + + + + + + + 98719 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98719 + Pulmonary artery or pulmonary branch anomaly + + Category + + + + + + 1208 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1208 + Pulmonary atresia-intact ventricular septum syndrome + + Morphological anomaly + + + + + + + + 982 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=982 + Pulmonary valve agenesis + + Clinical group + + + + + + 99048 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99048 + Pulmonary valve agenesis-intact ventricular septum-persistent ductus arteriosus syndrome + + Malformation syndrome + + + + + + + + 101206 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101206 + Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome + + Malformation syndrome + + + + + + + + + + 980 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=980 + Absence of the pulmonary artery + + Morphological anomaly + + + + + + + + 3189 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3189 + Congenital pulmonary valvar stenosis + + Morphological anomaly + + + + + + 3190 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3190 + Subpulmonary stenosis + + Clinical subtype + + + + + + + + 3192 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3192 + Supravalvular pulmonary stenosis + + Clinical subtype + + + + + + + + 99054 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99054 + Valvular pulmonary stenosis + + Clinical subtype + + + + + + + + + + 1676 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1676 + Idiopathic pulmonary artery dilatation + + Disease + + + + + + + + 99083 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99083 + Pulmonary artery hypoplasia + + Morphological anomaly + + + + + + + + 99084 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99084 + Peripheral pulmonary stenosis + + Morphological anomaly + + + + + + + + + + 98725 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98725 + Ascending aorta anomaly + + Category + + + + + + 1054 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1054 + Aneurysm of sinus of Valsalva + + Morphological anomaly + + + + + + + + 3093 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3093 + Congenital aortic valve stenosis + + Morphological anomaly + + + + + + 95448 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95448 + Congenital aortic valve atresia + + Clinical subtype + + + + + + + + 101043 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101043 + Congenital aortic valve dysplasia + + Clinical subtype + + + + + + + + + + 3400 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3400 + Aorto-ventricular tunnel + + Morphological anomaly + + + + + + 99070 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99070 + Aorto-right ventricular tunnel + + Clinical subtype + + + + + + + + 99071 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99071 + Aorto-left ventricular tunnel + + Clinical subtype + + + + + + + + + + + + + + 98727 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98727 + Rare atrial defect and interatrial communication + + 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 + + + + + + + + + + 1463 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1463 + Triatrial heart + + Clinical group + + + + + + 99098 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99098 + Cor triatriatum dexter + + Morphological anomaly + + + + + + + + 99099 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99099 + Cor triatriatum sinister + + Morphological anomaly + + + + + + + + + + 1677 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1677 + Familial idiopathic dilatation of the right atrium + + Morphological anomaly + + + + + + + + 95510 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95510 + Atrial appendage anomaly + + Category + + + + + + 99100 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99100 + Juxtaposition of the atrial appendages + + Morphological anomaly + + + + + + + + 99101 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99101 + Ectasia of the right atrial appendage + + Morphological anomaly + + + + + + + + 99102 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99102 + Ectasia of the left atrial appendage + + Morphological anomaly + + + + + + + + + + 99107 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99107 + Atrial septal aneurysm + + Morphological anomaly + + + + + + + + 568065 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=568065 + EPHB4-related lymphatic-related hydrops fetalis + + Disease + + + + + + + + + + 363189 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363189 + Congenital anomaly of the great veins + + Category + + + + + + 3091 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3091 + Congenital systemic veins anomaly + + Category + + + + + + 95498 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95498 + Congenital anomaly of superior vena cava + + Category + + + + + + 652668 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=652668 + Primary superior vena cava aneurysm + + Malformation syndrome + + + + + + + + 99109 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99109 + Persistent left superior vena cava connecting through coronary sinus to left-sided atrium + + Morphological anomaly + + + + + + + + 99110 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99110 + Right superior vena cava connecting to left-sided atrium + + Morphological anomaly + + + + + + + + 99111 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99111 + Persistent left superior vena cava connecting to the roof of left-sided atrium + + Morphological anomaly + + + + + + + + 99112 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99112 + Absence of innominate vein + + Morphological anomaly + + + + + + + + 99113 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99113 + Subaortic course of innominate vein + + Morphological anomaly + + + + + + + + 99114 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99114 + Agenesis of the superior vena cava + + Morphological anomaly + + + + + + + + + + 95499 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95499 + Congenital anomaly of the inferior vena cava + + Category + + + + + + 652678 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=652678 + Primary inferior vena cava aneurysm + + Morphological anomaly + + + + + + + + 99119 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99119 + Right inferior vena cava connecting to left-sided atrium + + Morphological anomaly + + + + + + + + 99120 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99120 + Persistent eustachian valve + + Morphological anomaly + + + + + + + + 99121 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99121 + Azygos continuation of the inferior vena cava + + Morphological anomaly + + + + + + + + 99122 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99122 + Congenital stenosis of the inferior vena cava + + Morphological anomaly + + + + + + + + 99123 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99123 + Inferior vena cava interruption without azygos continuation + + Morphological anomaly + + + + + + + + + + 95500 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95500 + Congenital anomaly of the coronary sinus + + Category + + + + + + 99117 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99117 + Coronary sinus stenosis + + Morphological anomaly + + + + + + + + 99118 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99118 + Coronary sinus atresia + + Morphological anomaly + + + + + + + + + + 95507 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95507 + Congenital anomaly of hepatic vein + + Morphological anomaly + + + + + + + + 480531 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480531 + Congenital portosystemic shunt + + Morphological anomaly + + + + + + + + + + 98729 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98729 + Congenital pulmonary veins anomaly + + Category + + + + + + 3090 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3090 + Congenital pulmonary venous return anomaly + + Clinical group + + + + + + 99124 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99124 + Congenital partial pulmonary venous return anomaly + + Morphological anomaly + + + + + + + + 99125 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99125 + Congenital total pulmonary venous return anomaly + + Morphological anomaly + + + + + + + + + + 185 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=185 + Scimitar syndrome + + Malformation syndrome + + + + + + + + 3188 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3188 + Congenital pulmonary veins atresia or stenosis + + Clinical group + + + + + + 99126 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99126 + Congenital pulmonary vein atresia + + Morphological anomaly + + + + + + + + 642071 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642071 + Primary pulmonary vein stenosis + + Disease + + + + + + + + + + + + + + 448270 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=448270 + Ectopia cordis + + Morphological anomaly + + + + + + + + 1055 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1055 + Congenital left ventricular aneurysm + + Malformation syndrome + + + + + + + + + + 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 + + + + + + + + 2475 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2475 + White forelock with malformations + + 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 + + + + + + + + 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 + + + + + + + + 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 + + + + + + + + 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 + + + + + + + + + + 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 + + + + + + + + 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 + + + + + + + + 521438 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521438 + Congenital vertebral-cardiac-renal anomalies 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 + + + + + + + + + + + + 98038 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98038 + Cranial malformation + + Category + + + + + + 97340 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97340 + Hunter-McAlpine syndrome + + Malformation syndrome + + + + + + + + 2050 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2050 + Cole-Carpenter syndrome + + 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 + + + + + + + + 293843 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293843 + 3MC syndrome + + Malformation syndrome + + + + + + + + 79213 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79213 + Mucopolysaccharidosis + + Category + + + + + + 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 + + + + + + 309310 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309310 + Mucopolysaccharidosis type 4B + + Clinical subtype + + + + + + + + 309297 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309297 + Mucopolysaccharidosis type 4A + + Clinical subtype + + + + + + + + + + 67041 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=67041 + Hyaluronidase deficiency + + Disease + + + + + + + + 662216 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662216 + Mucopolysaccharidosis type 10 + + Disease + + + + + + + + + + 648 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=648 + Noonan syndrome + + Malformation syndrome + + + + + + + + 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 + + + + + + + + 65759 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65759 + Carpenter 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 + + + + + + + + + + + + 945 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=945 + Acalvaria + + Malformation syndrome + + + + + + + + 1513 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1513 + Craniodiaphyseal dysplasia + + Malformation syndrome + + + + + + + + 1790 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1790 + Hypomandibular faciocranial dysostosis + + 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 + + + + + + + + 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 + + + + + + + + + + 974 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=974 + Adams-Oliver syndrome + + Malformation syndrome + + + + + + + + 1522 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1522 + Craniometaphyseal 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 + + + + + + + + + + 98039 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98039 + 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 + + + + + + 93938 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93938 + Laryngotracheoesophageal cleft type 1 + + 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 + + + + + + + + 93941 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93941 + Laryngotracheoesophageal cleft type 4 + + Clinical subtype + + + + + + + + 280205 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280205 + Laryngotracheoesophageal cleft type 0 + + Clinical subtype + + + + + + + + + + 454750 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=454750 + Isolated tracheoesophageal fistula + + Morphological anomaly + + + + + + + + + + 108961 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=108961 + Syndromic esophageal malformation + + Category + + + + + + 887 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=887 + VACTERL/VATER association + + Malformation syndrome + + + + + + + + 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 + + + + + + + + 199293 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199293 + Congenital microgastria + + 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 + + + + + + + + + + 2538 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2538 + Microgastria-limb reduction defect syndrome + + Malformation syndrome + + + + + + + + + + + + 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 + + + + + + + + 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 + + + + + + + + 1198 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1198 + Colonic atresia + + 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 + + + + + + + + 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 + + + + + + + + + + + + 98041 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98041 + 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 + + + + + + 2040 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2040 + Congenital respiratory-biliary fistula + + Morphological anomaly + + + + + + + + 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 + + + + + + + + 30391 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=30391 + Isolated biliary atresia + + Morphological anomaly + + + + + + + + 53035 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53035 + Caroli disease + + Malformation syndrome + + + + + + + + 101351 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101351 + Familial isolated congenital asplenia + + Morphological anomaly + + + + + + + + 457083 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=457083 + Isolated splenogonadal fusion + + 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 + + + + + + + + 693869 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=693869 + Gallblader arteriovenous malformation + + Malformation syndrome + + + + + + + + 662388 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662388 + Isolated gallbladder duplication + + Morphological anomaly + + + + + + + + 688523 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=688523 + Splenic venous malformation + + Disease + + + + + + + + 693863 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=693863 + Splenic arteriovenous malformation + + Malformation syndrome + + + + + + + + 693826 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=693826 + Pancreatic arteriovenous malformation + + Malformation syndrome + + + + + + + + + + 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 + + + + + + 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 + + + + + + + + 244283 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=244283 + Biliary atresia with splenic malformation 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 + + + + + + + + 97548 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97548 + Right 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 + + + + + + + + + + + + 98043 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98043 + Diaphragmatic or abdominal wall malformation + + Category + + + + + + 108977 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=108977 + Non-syndromic diaphragmatic or abdominal wall malformation + + Category + + + + + + 2140 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2140 + Congenital diaphragmatic hernia + + Morphological anomaly + + + + + + + + 660 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=660 + Omphalocele + + Morphological anomaly + + + + + + 695032 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=695032 + Giant omphalocele + + Clinical subtype + + + + + + + + 695038 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=695038 + Small omphalocele + + 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 + + + + + + + + + + 2368 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2368 + Gastroschisis + + Morphological anomaly + + + + + + + + 490 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=490 + Omphalomesenteric cyst + + Morphological anomaly + + + + + + + + 697986 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=697986 + Congenital peritoneal encapsulation + + Malformation syndrome + + + + + + + + + + 108979 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=108979 + Syndromic diaphragmatic or abdominal wall malformation + + Category + + + + + + 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 + + + + + + + + 280 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280 + Wolf-Hirschhorn syndrome + + Malformation syndrome + + + + + + + + 199 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199 + Cornelia de Lange 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 + + + + + + + + 287 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=287 + Classical Ehlers-Danlos syndrome + + Disease + + + + + + + + 373 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=373 + Simpson-Golabi-Behmel syndrome + + Malformation syndrome + + + + + + + + 1335 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1335 + Pentalogy of Cantrell + + Malformation syndrome + + + + + + + + 2059 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2059 + Fryns 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 + + + + + + + + 2143 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2143 + Donnai-Barrow syndrome + + Malformation syndrome + + + + + + + + 2322 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2322 + Kabuki syndrome + + Malformation syndrome + + + + + + + + 2369 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2369 + Limb body wall complex + + Malformation syndrome + + + + + + + + 2470 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2470 + Matthew-Wood 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 + + + + + + + + 2847 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2847 + Pericardial and diaphragmatic defect + + Malformation syndrome + + + + + + + + 3164 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3164 + Omphalocele syndrome, Shprintzen-Goldberg type + + 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 + + + + + + + + + + 96170 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96170 + Emanuel syndrome + + Malformation syndrome + + + + + + + + 230839 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=230839 + Classical-like Ehlers-Danlos syndrome type 1 + + Disease + + + + + + + + 280403 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280403 + Familial omphalocele syndrome with facial dysmorphism + + Malformation syndrome + + + + + + + + 314432 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314432 + Spigelian hernia-cryptorchidism 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 + + + + + + + + + + + + 98044 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98044 + Central nervous system malformation + + Category + + + + + + 108989 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=108989 + 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 + + + + + + 573253 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=573253 + Split cord malformation type II + + Morphological anomaly + + + + + + + + 1671 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1671 + Split cord malformation type I + + 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 + + + + + + + + + + 573278 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=573278 + Split cord malformation + + Clinical group + + + + + + 573253 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=573253 + Split cord malformation type II + + Morphological anomaly + + + + + + + + 1671 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1671 + Split cord malformation type I + + Morphological anomaly + + + + + + + + 633076 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=633076 + Split cord malformation, composite type + + 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 + + + + + + + + + + + + 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 + + + + + + + + + + 98519 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98519 + 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 + + + + + + + + + + 182061 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=182061 + Cerebellar malformation + + Category + + + + + + 59315 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=59315 + Rhombencephalosynapsis + + Malformation syndrome + + + + + + + + 98514 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98514 + Malformation of the cerebellar vermis + + Category + + + + + + 475 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=475 + Isolated Joubert syndrome + + Malformation syndrome + + + + + + + + 199630 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199630 + Isolated cerebellar vermis hypoplasia + + Morphological anomaly + + + + + + + + 269203 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269203 + Isolated cerebellar vermis agenesis + + Morphological anomaly + + + + + + 269206 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269206 + Isolated total cerebellar vermis agenesis + + Clinical subtype + + + + + + + + 269209 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269209 + Isolated partial cerebellar vermis agenesis + + Clinical subtype + + + + + + + + + + + + 98516 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98516 + Malformation of the cerebellar hemispheres + + Category + + + + + + 269218 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269218 + Isolated unilateral hemispheric cerebellar hypoplasia + + Morphological anomaly + + + + + + + + 269221 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269221 + Isolated bilateral hemispheric cerebellar hypoplasia + + Morphological anomaly + + + + + + + + + + 269224 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269224 + Global cerebellar malformation + + Category + + + + + + 1397 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1397 + Hydrocephaly-cerebellar agenesis syndrome + + Malformation syndrome + + + + + + + + 1398 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1398 + Isolated cerebellar agenesis + + Morphological anomaly + + + + + + + + + + + + 269229 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269229 + Pontine tegmental cap dysplasia + + Morphological anomaly + + + + + + + + 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 + + + + + + + + + + 97252 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97252 + Mega-cisterna magna + + Morphological anomaly + + + + + + + + 98922 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98922 + Blake pouch cyst + + Morphological anomaly + + + + + + + + + + 199633 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199633 + Non-syndromic cerebral malformation + + Category + + + + + + 1665 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1665 + Sporadic fetal brain disruption sequence + + Malformation syndrome + + + + + + + + 2477 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2477 + Isolated megalencephaly + + Malformation syndrome + + + + + + + + 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 + + + + + + + + + + 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 + + + + + + + + + + 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 + + + + + + + + 566847 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=566847 + Aprosencephaly/atelencephaly spectrum + + Morphological anomaly + + + + + + 566852 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=566852 + Atelencephaly + + Clinical subtype + + + + + + + + 566857 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=566857 + Aprosencephaly + + Clinical subtype + + + + + + + + + + + + 268936 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268936 + Isolated arhinencephaly + + Morphological anomaly + + + + + + + + 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 + + + + + + 485275 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=485275 + Acquired schizencephaly + + Etiological subtype + + + + + + + + 481986 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=481986 + Familial 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 + + + + + + + + 200 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=200 + Isolated corpus callosum agenesis + + Morphological anomaly + + + + + + + + + + 269194 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269194 + Central nervous system cystic malformation + + Category + + + + + + 2356 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2356 + Arachnoid cyst + + Morphological anomaly + + + + + + + + 269197 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269197 + Glioependymal/ependymal cyst + + Morphological anomaly + + + + + + + + 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 + + + + + + + + + + + + 108991 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=108991 + Syndrome with a central nervous system malformation as a major feature + + Category + + + + + + 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 + + + + + + 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 + + + + + + + + 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 + + + + + + + + + + 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 + + + + + + + + + + 199639 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199639 + Syndrome with corpus callosum agenesis/dysgenesis as a major feature + + 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 + + + + + + + + + + 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 + + + + + + + + 1553 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1553 + Curry-Jones 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 + + + + + + + + 2510 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2510 + Micro 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 + + + + + + + + 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 + + + + + + + + + + 459074 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=459074 + Corpus callosum agenesis-macrocephaly-hypertelorism 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 + + + + + + + + 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 + + + + + + + + 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 + + + + + + + + 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 + + + + + + + + 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 + + + + + + + + + + 269523 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269523 + Syndrome with a cerebellar malformation as a major feature + + Category + + + + + + 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 + + + + + + + + 314597 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314597 + Chudley-McCullough syndrome + + Malformation syndrome + + + + + + + + 1493 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1493 + Vici syndrome + + Malformation syndrome + + + + + + + + 443162 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443162 + NDE1-related microhydranencephaly + + 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 + + + + + + + + 1532 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1532 + Gómez-López-Hernández 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 + + + + + + + + 2754 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2754 + Orofaciodigital syndrome type 6 + + Malformation syndrome + + + + + + + + 2941 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2941 + Porencephaly-cerebellar hypoplasia-internal malformations syndrome + + Malformation syndrome + + + + + + + + 3322 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3322 + Hoyeraal-Hreidarsson syndrome + + Disease + + + + + + + + 3469 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3469 + XK aprosencephaly syndrome + + Malformation syndrome + + + + + + + + 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 + + + + + + + + 269546 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269546 + Syndrome with a Dandy-Walker malformation as a major feature + + Category + + + + + + 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 type 1 + + 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 + + + + + + + + 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 + + + + + + + + 2427 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2427 + Macrocephaly-short stature-paraplegia syndrome + + 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 + + + + + + + + 79332 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79332 + B4GALT1-CDG + + Disease + + + + + + + + 1566 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1566 + Dandy-Walker malformation-postaxial polydactyly syndrome + + Malformation syndrome + + + + + + + + + + 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 + + + + + + + + 467166 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=467166 + Tubulinopathy-associated dysgyria + + Disease + + + + + + + + 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 + + + + + + + + 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 + + + + + + + + 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 + + + + + + + + 580933 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=580933 + Lethal brain and heart developmental defects + + Malformation syndrome + + + + + + + + 611223 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=611223 + EN1-related dorsoventral syndrome + + 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 + + + + + + + + + + 693549 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=693549 + Facial dysmorphism-Intellectual disability-rhombencephalosynapsis 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 + + + + + + + + + + 269531 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=269531 + Other syndrome with a central nervous system malformation as a major feature + + Category + + + + + + 529574 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=529574 + Duane retraction syndrome with congenital deafness + + Malformation syndrome + + + + + + + + 443162 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443162 + NDE1-related microhydranencephaly + + Malformation syndrome + + + + + + + + 480528 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480528 + Lethal hydranencephaly-diaphragmatic hernia 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 + + + + + + + + 93932 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93932 + FG syndrome type 1 + + Disease + + + + + + + + 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 + + + + + + + + 3176 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3176 + Spina bifida-hypospadias syndrome + + Malformation syndrome + + + + + + + + 1647 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1647 + Oculocerebrocutaneous syndrome + + Malformation syndrome + + + + + + + + 1756 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1756 + Caudal duplication + + Malformation syndrome + + + + + + + + 2065 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2065 + Galloway-Mowat 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 + + + + + + + + 2163 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2163 + Holoprosencephaly-craniosynostosis syndrome + + Malformation syndrome + + + + + + + + 2165 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2165 + Holoprosencephaly-caudal dysgenesis syndrome + + Malformation syndrome + + + + + + + + 2189 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2189 + Hydrolethalus + + Malformation syndrome + + + + + + + + 2351 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2351 + Kousseff syndrome + + Malformation syndrome + + + + + + + + 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 + + + + + + + + 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 + + + + + + + + 63862 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=63862 + Schisis association + + Malformation syndrome + + + + + + + + 66625 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=66625 + Cerebrooculonasal syndrome + + Malformation syndrome + + + + + + + + 83628 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83628 + LUMBAR syndrome + + 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 + + + + + + + + 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 + + + + + + + + 306547 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306547 + Porencephaly-microcephaly-bilateral congenital cataract syndrome + + Malformation syndrome + + + + + + + + 314597 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314597 + Chudley-McCullough 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 + + + + + + + + 443988 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443988 + Ventriculomegaly-cystic kidney disease + + 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 + + + + + + + + 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 + + + + + + + + 2117 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2117 + Hartsfield 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 + ZTTK syndrome + + Malformation syndrome + + + + + + + + 556955 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=556955 + Pancreatic agenesis-holoprosencephaly syndrome + + Disease + + + + + + + + 1861 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1861 + Thoracic dysplasia-hydrocephalus syndrome + + Malformation syndrome + + + + + + + + 544469 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=544469 + PRUNE1-related neurological 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 + + + + + + + + 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 + + + + + + + + + + 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 + + + + + + + + 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 + + + + + + + + 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 + + + + + + + + 688642 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=688642 + Turnpenny-Fry 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 + + + + + + + + + + + + + + 98045 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98045 + 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 + + + + + + 2414 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2414 + Congenital pulmonary lymphangiectasia + + Disease + + + + + + + + 2444 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2444 + Congenital pulmonary airway malformation + + Malformation syndrome + + + + + + 280827 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280827 + Congenital pulmonary airway malformation type 0 + + Clinical subtype + + + + + + + + 280832 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280832 + Congenital pulmonary airway malformation type 1 + + Clinical subtype + + + + + + + + 280840 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280840 + Congenital pulmonary airway malformation type 2 + + Clinical subtype + + + + + + + + 280847 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280847 + Congenital pulmonary airway malformation type 3 + + Clinical subtype + + + + + + + + 280854 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280854 + Congenital pulmonary airway malformation type 4 + + Clinical subtype + + + + + + + + + + 3346 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3346 + Tracheal agenesis + + Morphological anomaly + + + + + + + + 984 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=984 + Pulmonary agenesis + + Morphological anomaly + + + + + + + + 2040 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2040 + Congenital respiratory-biliary fistula + + Morphological anomaly + + + + + + + + 1928 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1928 + Congenital lobar emphysema + + Morphological anomaly + + + + + + + + 2004 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2004 + Laryngotracheoesophageal cleft + + Morphological anomaly + + + + + + 93938 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93938 + Laryngotracheoesophageal cleft type 1 + + 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 + + + + + + + + 93941 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93941 + Laryngotracheoesophageal cleft type 4 + + Clinical subtype + + + + + + + + 280205 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280205 + Laryngotracheoesophageal cleft type 0 + + Clinical subtype + + + + + + + + + + 2257 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2257 + Primary pulmonary hypoplasia + + Morphological anomaly + + + + + + + + 2038 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2038 + Pulmonary arteriovenous malformation + + Morphological anomaly + + + + + + + + 3161 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3161 + Congenital pulmonary sequestration + + Malformation syndrome + + + + + + 280802 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280802 + Intralobar congenital pulmonary sequestration + + Clinical subtype + + + + + + + + 280811 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280811 + Extralobar congenital pulmonary sequestration + + Clinical subtype + + + + + + + + 280821 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280821 + Communicating congenital bronchopulmonary-foregut malformation + + Clinical subtype + + + + + + + + + + 70589 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70589 + Bronchopulmonary dysplasia + + Malformation syndrome + + + + + + + + 95430 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95430 + Congenital tracheomalacia + + Morphological anomaly + + + + + + + + 411501 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411501 + Williams-Campbell syndrome + + Morphological anomaly + + + + + + + + 700286 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700286 + Congenital high airway obstruction syndrome + + Clinical syndrome + + + + + + + + 649014 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=649014 + Bronchial malformation + + Clinical group + + + + + + 648992 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=648992 + Non-syndromic bridging bronchus + + Morphological anomaly + + + + + + + + 649010 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=649010 + Non-syndromic congenital bronchial atresia + + Morphological anomaly + + + + + + + + 649029 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=649029 + Isolated left bronchial isomerism + + Morphological anomaly + + + + + + + + 2357 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2357 + Bronchogenic cyst + + Morphological anomaly + + + + + + + + + + 454750 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=454750 + Isolated tracheoesophageal fistula + + Morphological anomaly + + + + + + + + + + 108995 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=108995 + Syndromic respiratory or mediastinal malformation + + Category + + + + + + 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 + + + + + + + + 1486 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1486 + Lethal congenital contracture syndrome type 1 + + Malformation syndrome + + + + + + + + 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 + + + + + + + + 2745 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2745 + Opitz GBBB syndrome + + Malformation syndrome + + + + + + + + 1132 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1132 + Aortic arch defects + + Category + + + + + + 99075 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99075 + Encircling double aortic arch + + Morphological anomaly + + + + + + + + 99076 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99076 + Persistent fifth aortic arch + + Morphological anomaly + + + + + + + + 99077 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99077 + Kommerell diverticulum + + Morphological anomaly + + + + + + + + 99078 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99078 + Neuhauser anomaly + + Morphological anomaly + + + + + + + + 99079 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99079 + Cervical aortic arch + + Morphological anomaly + + + + + + + + 99081 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99081 + Right aortic arch + + Morphological anomaly + + + + + + + + 99082 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99082 + Dysphagia lusoria + + Morphological anomaly + + + + + + + + + + + + + + 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 + + + + + + + + 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 + + + + + + 65285 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65285 + Lhermitte-Duclos disease + + Clinical subtype + + + + + + + + 201 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=201 + Cowden syndrome + + 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 + + + + + + + + + + 90308 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90308 + Capillary-lymphatic-venous malformation with segmental distribution + + Disease + + + + + + + + + + 98553 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98553 + Developmental defect of the eye + + Category + + + + + + 83461 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83461 + Congenital primary aphakia + + Malformation syndrome + + + + + + + + 137905 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137905 + Syndromic optic nerve hypoplasia + + 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 + + + + + + + + 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 + + + + + + + + + + 519333 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519333 + Congenital optic disc excavation + + Category + + + + + + 519400 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519400 + Peripapillary staphyloma + + Morphological anomaly + + + + + + + + 519404 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519404 + Optic disc pit + + 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 + + + + + + + + 35737 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35737 + Morning glory disc anomaly + + Morphological anomaly + + + + + + + + 519402 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519402 + Isolated megalopapilla + + Morphological anomaly + + + + + + + + + + 519345 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519345 + Rare disorder with optic disc malformation + + Category + + + + + + 324737 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324737 + SRD5A3-CDG + + Disease + + + + + + + + 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 + + + + + + + + 1475 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1475 + Renal coloboma syndrome + + Malformation syndrome + + + + + + + + + + 98560 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98560 + Rare 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 + + + + + + 920 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=920 + Ablepharon macrostomia syndrome + + Malformation syndrome + + + + + + + + 2671 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2671 + Neu-Laxova syndrome + + Malformation syndrome + + + + + + 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 + + + + + + + + 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 + + + + + + + + + + + + 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 + + + + + + + + + + 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 + + + + + + + + 85275 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85275 + Microphthalmia-ankyloblepharon-intellectual disability syndrome + + Malformation syndrome + + + + + + + + + + 98566 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98566 + Syndromic eyelid coloboma + + 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 + + + + + + + + 246 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=246 + Postaxial acrofacial dysostosis + + Malformation syndrome + + + + + + + + 1234 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1234 + Bartsocas-Papas syndrome + + 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 + + + + + + + + 2717 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2717 + Oculotrichoanal 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 + + + + + + + + + + 98567 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98567 + Rare eyelid malposition disorder + + Category + + + + + + 98578 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98578 + Rare disorder with ptosis + + Category + + + + + + 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 + + + + + + + + 2308 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2308 + Jacobsen 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 + + + + + + + + 1323 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1323 + Camptodactyly-joint contractures-facial skeletal defects 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 + + + + + + 716913 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=716913 + Ubiquitously expressed proteins associated congenital myasthenic syndrome + + Etiological subtype + + + + + + 353327 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353327 + Congenital myasthenic syndrome with glycosylation defect + + Etiological subtype + + + + + + + + 716917 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=716917 + Congenital myasthenic syndrome with mitochondrial defect + + Etiological subtype + + + + + + + + + + 98913 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98913 + Postsynaptic congenital myasthenic syndrome + + Etiological subtype + + + + + + 716742 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=716742 + Congenital myasthenic syndrome with kinetic defect + + Etiological subtype + + + + + + 716758 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=716758 + Fast-channel congenital myasthenic syndrome + + Etiological subtype + + + + + + + + 716765 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=716765 + Slow-channel congenital myasthenic syndrome + + Etiological subtype + + + + + + + + 716772 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=716772 + Congenital myasthenic syndrome with kinetic defect due to reduced ion channel conductance + + Etiological subtype + + + + + + + + + + 716816 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=716816 + Congenital myasthenic syndrome with primary acetylcholine receptor deficiency + + Etiological subtype + + + + + + + + 716881 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=716881 + Congenital myasthenic syndrome due to a sodium channel 1.4 defect + + Etiological subtype + + + + + + + + 716825 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=716825 + Congenital myasthenic syndrome due to defects in endplate development and maintenance + + Etiological subtype + + + + + + + + + + 98914 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98914 + Presynaptic congenital myasthenic syndromes + + Etiological subtype + + + + + + 716899 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=716899 + Congenital myasthenic syndrome due to defective synaptic vesicles exocytosis + + Etiological subtype + + + + + + 716908 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=716908 + Autosomal dominant congenital myasthenic syndromes due to defective synaptic vesicles exocytosis + + Etiological subtype + + + + + + + + 716903 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=716903 + Autosomal recessive congenital myasthenic syndrome due to defective synaptic vesicles exocytosis + + Etiological subtype + + + + + + + + + + 716889 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=716889 + Congenital myasthenic syndromes due to defective axonal transport + + Etiological subtype + + + + + + + + 716893 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=716893 + Congenital myasthenic syndrome due to defective synthesis or recycling of acetylcholine + + Etiological subtype + + + + + + + + + + 98915 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98915 + Synaptic congenital myasthenic syndrome + + 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 + + + + + + + + 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 + + + + + + + + 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 + + + + + + + + 293642 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293642 + Blepharophimosis-intellectual disability syndrome + + Clinical group + + + + + + 637013 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=637013 + SMARCA2-related blepharophimosis-intellectual disability syndrome + + Malformation syndrome + + + + + + + + 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 + + + + + + + + 700160 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=700160 + ADNP-related blepharophimosis-intellectual disability syndrome + + Disease + + + + + + + + + + 91411 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91411 + Congenital ptosis + + 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 + + + + + + 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 + + + + + + + + + + 98571 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98571 + Secondary ectropion + + Category + + + + + + 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 + + + + + + + + 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 + + + + + + 281127 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=281127 + Acral self-healing collodion baby + + Disease + + + + + + + + 281122 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=281122 + Self-improving collodion baby + + 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 + + + + + + + + 313 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313 + Lamellar ichthyosis + + Disease + + + + + + + + 289586 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289586 + Exfoliative ichthyosis + + Disease + + + + + + + + + + + + + + 519270 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519270 + Rare 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 + + + + + + + + 519386 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519386 + Isolated congenital entropion + + Morphological anomaly + + + + + + + + + + 519390 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519390 + Isolated blepharochalasis + + Disease + + + + + + + + 1253 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1253 + Ascher syndrome + + Malformation syndrome + + + + + + + + 46486 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=46486 + Mucous membrane pemphigoid + + Disease + + + + + + + + 98574 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98574 + Syndromic epicanthus + + Category + + + + + + 1705 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1705 + Distal duplication 14q 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 + + + + + + + + + + 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 + + + + + + + + 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 + + + + + + 2745 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2745 + Opitz GBBB syndrome + + Malformation syndrome + + + + + + + + 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 + + + + + + + + 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 + + + + + + + + + + 2707 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2707 + Oculocerebrofacial syndrome, Kaufman type + + 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 + + + + + + 648 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=648 + Noonan syndrome + + Malformation syndrome + + + + + + + + 870 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=870 + Down 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 + + + + + + + + 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 + + + + + + + + + + + + + + 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 + + + + + + + + + + 98605 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98605 + Lacrimal drainage system anomaly + + Category + + + + + + 141083 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141083 + Nasolacrimal duct cyst + + Morphological anomaly + + + + + + + + 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 + + + + + + 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 + + + + + + + + 1775 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1775 + Dyskeratosis congenita + + Disease + + + + + + + + + + + + 519272 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519272 + Structural developmental eye defect + + Category + + + + + + 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 + + + + + + 568 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=568 + Microphthalmia, Lenz type + + Malformation syndrome + + + + + + + + 1106 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1106 + Microphthalmia with limb anomalies + + Malformation syndrome + + + + + + + + 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 + + + + + + + + 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 + + + + + + + + 157962 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157962 + Oculoauricular syndrome, Schorderet type + + Malformation syndrome + + + + + + + + 178364 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178364 + Syndromic microphthalmia type 5 + + 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 + + + + + + + + 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 + + + + + + + + 2432 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2432 + Macrosomia-microphthalmia-cleft palate 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 + + + + + + + + 1647 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1647 + Oculocerebrocutaneous syndrome + + 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 + + + + + + + + 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 + + + + + + + + + + + + 466682 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466682 + Euthyroid Graves orbitopathy + + Disease + + + + + + + + 468672 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=468672 + Colobomatous macrophthalmia-microcornea syndrome + + Disease + + + + + + + + 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 + + + + + + + + 519384 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519384 + Congenital cystic eye + + Morphological anomaly + + + + + + + + 363396 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363396 + High myopia-sensorineural deafness syndrome + + Disease + + + + + + + + + + 88632 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88632 + Anterior segment developmental anomaly + + Category + + + + + + 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 + + + + + + + + 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 + + + + + + + + 708 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=708 + Peters anomaly + + Morphological anomaly + + + + + + + + 91483 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91483 + Rieger anomaly + + Morphological anomaly + + + + + + + + 566 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=566 + Congenital microcoria + + 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 + + + + + + + + 519392 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519392 + Isolated iridoschisis + + Disease + + + + + + + + + + 519276 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519276 + Anterior segment developmental anomaly with extraocular manifestations + + Category + + + + + + 709 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=709 + Peters plus syndrome + + Malformation syndrome + + + + + + + + 782 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=782 + Axenfeld-Rieger 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 + + + + + + + + 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 + + + + + + + + 195 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=195 + Cat-eye syndrome + + Malformation syndrome + + + + + + + + 96125 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96125 + Distal deletion 6p 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 + + + + + + + + + + 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 + + + + + + + + 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 + + + + + + + + + + 506307 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=506307 + Stromme syndrome + + Malformation syndrome + + + + + + + + 2321 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2321 + Jung 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 + + + + + + + + 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 + + + + + + + + + + 98989 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98989 + Cerulean 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 + + + + + + + + + + 98652 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98652 + Lens size anomaly + + 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 + + + + + + + + 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 + + + + + + + + 3086 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3086 + Autosomal dominant vitreoretinochoroidopathy + + 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 + + + + + + + + + + 519396 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519396 + Isolated microspherophakia + + Morphological anomaly + + + + + + + + + + 98653 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98653 + Lens position anomaly + + Category + + + + + + 1885 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1885 + Isolated ectopia lentis + + Malformation syndrome + + + + + + + + 519292 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519292 + Syndromic ectopia lentis + + Category + + + + + + 2092 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2092 + Focal dermal hypoplasia + + Malformation syndrome + + + + + + + + 3449 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3449 + Weill-Marchesani syndrome + + Malformation syndrome + + + + + + + + 231736 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=231736 + Microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma 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 + + + + + + + + + + 2551 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2551 + Microspherophakia-metaphyseal dysplasia 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 + + + + + + + + 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 + + + + + + + + 2325 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2325 + Epidermolysis bullosa simplex with anodontia/hypodontia + + Malformation syndrome + + + + + + + + 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 + + + + + + + + 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 + + + + + + + + + + + + 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 + + + + + + + + + + 98943 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98943 + Coloboma of eye lens + + Morphological anomaly + + + + + + + + 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 + + + + + + + + + + 98942 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98942 + Coloboma of choroid and retina + + Morphological anomaly + + + + + + + + 1471 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1471 + Coloboma of macula-brachydactyly type B 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 + + + + + + + + 98945 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98945 + Coloboma of macula + + Morphological anomaly + + + + + + + + 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 + + + + + + + + + + 98631 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98631 + Congenital malformation of the eye with glaucoma as a major feature + + Category + + + + + + 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 + + + + + + + + + + 94058 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94058 + Neovascular glaucoma + + Particular clinical situation in a disease or syndrome + + + + + + + + 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 + + + + + + + + 792 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=792 + X-linked retinoschisis + + 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 + + + + + + + + 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 + + + + + + + + 708 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=708 + Peters anomaly + + Morphological anomaly + + + + + + + + 91483 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91483 + Rieger anomaly + + Morphological anomaly + + + + + + + + 566 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=566 + Congenital microcoria + + 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 + + + + + + + + 519392 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=519392 + Isolated iridoschisis + + Disease + + + + + + + + + + 98973 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98973 + Posterior polymorphous corneal dystrophy + + Disease + + + + + + + + + + 637064 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=637064 + Isolated optic nerve aplasia + + Morphological anomaly + + + + + + + + 716213 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=716213 + Rare isolated developmental choroidal disorder + + Category + + + + + + 209956 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209956 + Idiopathic uveal effusion syndrome + + Disease + + + + + + + + 674958 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=674958 + Stellate multiform amelanotic choroidopathy + + Disease + + + + + + + + 674943 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=674943 + Isolated angioid streaks + + Disease + + + + + + + + + + 714138 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=714138 + Circumscribed choroidal hemangioma + + Disease + + + + + + + + 637061 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=637061 + Isolated optic nerve hypoplasia + + Morphological anomaly + + + + + + + + + + 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 + + + + + + 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 + + + + + + + + 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 + + + + + + + + + + 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 + + + + + + + + 35107 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35107 + Desmosterolosis + + Disease + + + + + + + + 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 + + + + + + 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 + + + + + + 309310 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309310 + Mucopolysaccharidosis type 4B + + Clinical subtype + + + + + + + + 309297 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309297 + Mucopolysaccharidosis type 4A + + Clinical subtype + + + + + + + + + + 67041 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=67041 + Hyaluronidase deficiency + + Disease + + + + + + + + 662216 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662216 + Mucopolysaccharidosis type 10 + + 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 + + + + + + + + + + + + + + 139012 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139012 + Rare 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 + + + + + + 2028 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2028 + Juvenile hyaline fibromatosis + + Clinical subtype + + + + + + + + 2176 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2176 + Infantile systemic hyalinosis + + 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 + + + + + + 659396 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=659396 + Cohen-Gibson syndrome + + Malformation syndrome + + + + + + + + 3447 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3447 + Weaver 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 + + + + + + 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 + + + + + + + + 622934 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=622934 + SBDS-related severe neonatal spondylometaphyseal dysplasia + + Malformation syndrome + + + + + + + + + + 93436 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93436 + Acromelic dysplasia + + Clinical group + + + + + + 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 + + + + + + + + 623695 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=623695 + MIR140-related spondyloepiphyseal dysplasia + + 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 + + + + + + + + 50811 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50811 + Lipodystrophy-intellectual disability-deafness syndrome + + Disease + + + + + + + + 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 + + + + + + + + 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 dysplasia + + 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 + + + + + + 2028 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2028 + Juvenile hyaline fibromatosis + + Clinical subtype + + + + + + + + 2176 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2176 + Infantile systemic hyalinosis + + 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 + + + + + + + + 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 + + + + + + + + + + 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 + + + + + + + + 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 + + + + + + + + 2770 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2770 + Nasu-Hakola 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 + + + + + + + + 488265 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488265 + Osteofibrous dysplasia + + Disease + + + + + + + + 163634 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163634 + Maffucci syndrome + + Disease + + + + + + + + + + 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 + + + + + + + + + + + + 364559 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=364559 + Dysostosis + + 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 + + + + + + + + 293843 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293843 + 3MC syndrome + + Malformation syndrome + + + + + + + + 79213 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79213 + Mucopolysaccharidosis + + Category + + + + + + 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 + + + + + + 309310 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309310 + Mucopolysaccharidosis type 4B + + Clinical subtype + + + + + + + + 309297 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309297 + Mucopolysaccharidosis type 4A + + Clinical subtype + + + + + + + + + + 67041 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=67041 + Hyaluronidase deficiency + + Disease + + + + + + + + 662216 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662216 + Mucopolysaccharidosis type 10 + + Disease + + + + + + + + + + 648 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=648 + Noonan syndrome + + Malformation syndrome + + + + + + + + 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 + + + + + + + + 65759 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65759 + Carpenter 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 + + + + + + + + + + + + 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 + + + + + + 1296 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1296 + Lambert syndrome + + Malformation syndrome + + + + + + + + 107 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=107 + BOR 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 + Orofaciodigital syndrome type 18 + + 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 + + + + + + + + + + + + 364568 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=364568 + Dysostosis with limb anomaly as a major feature + + Category + + + + + + 488434 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488434 + Camptodactyly syndrome, Guadalajara type 3 + + Malformation syndrome + + + + + + + + 3292 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3292 + Tel Hashomer camptodactyly 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 + + + + + + + + 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 + + + + + + + + 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 + + + + + + + + 2117 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2117 + Hartsfield syndrome + + Malformation syndrome + + + + + + + + 2439 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2439 + Patterson-Stevenson-Fontaine 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 + + + + + + + + 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 + + + + + + + + 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 + + + + + + + + 1275 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1275 + Brachydactyly-elbow wrist dysplasia syndrome + + Malformation syndrome + + + + + + + + 93388 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93388 + Brachydactyly type A1 + + 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 + + + + + + + + + + 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 + + + + + + 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 + + + + + + + + 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 + + + + + + + + 1465 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1465 + Coffin-Siris syndrome + + Malformation syndrome + + + + + + + + 3433 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3433 + Microcephaly-brachydactyly-kyphoscoliosis 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 + + + + + + + + 1278 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1278 + Brachydactyly-preaxial hallux varus syndrome + + Malformation syndrome + + + + + + + + 2956 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2956 + Acrodysplasia scoliosis + + Malformation syndrome + + + + + + + + 1292 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1292 + Brachymorphism-onychodysplasia-dysphalangism 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 + + + + + + + + 52056 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52056 + Ulnar/fibula ray defect-brachydactyly 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 + + + + + + + + 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 + + + + + + + + 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 + + + + + + + + + + 974 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=974 + Adams-Oliver 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 + + + + + + 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 + + + + + + + + 498491 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498491 + Non-syndromic complete hemimelia + + Category + + + + + + 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 + + + + + + + + 294979 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294979 + Isolated absence of both forearm and hand + + 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 + + + + + + + + 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 + + + + + + 295004 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295004 + Central polydactyly + + Morphological anomaly + + + + + + + + 498494 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498494 + Mirror-image 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 + + + + + + + + + + 294955 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294955 + Syndrome with limb reduction defects + + Category + + + + + + 488232 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488232 + Split-foot malformation-mesoaxial polydactyly 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 + + + + + + + + 1354 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1354 + Heart defects-limb shortening 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 + + + + + + + + 392 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=392 + Holt-Oram 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 + + + + + + + + 3312 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3312 + Thalidomide embryopathy + + 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 + + + + + + + + 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 + + + + + + + + 1891 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1891 + Intellectual disability-spasticity-ectrodactyly syndrome + + Malformation syndrome + + + + + + + + 2492 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2492 + FATCO 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 + + + + + + + + 221139 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221139 + Combined immunodeficiency with facio-oculo-skeletal anomalies + + Disease + + + + + + + + 1326 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1326 + Camptodactyly syndrome, Guadalajara type 2 + + Malformation syndrome + + + + + + + + + + 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 + Orofaciodigital syndrome type 18 + + 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 + + + + + + + + + + + + 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 + + + + + + + + 1321 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1321 + Camptodactyly-fibrous tissue hyperplasia-skeletal anomalies 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 + + + + + + + + + + + + + + 139021 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139021 + Malformation syndrome with short stature + + Category + + + + + + 904 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=904 + Williams 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 + + + + + + + + + + 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 + + + + + + + + 141333 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141333 + Biemond syndrome type 2 + + Disease + + + + + + + + 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 + + + + + + + + 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 + + + + + + + + 1937 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1937 + Eng-Strom syndrome + + Malformation syndrome + + + + + + + + 456298 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=456298 + 1p35.2 microdeletion syndrome + + Malformation syndrome + + + + + + + + 2332 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2332 + KBG 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 + + + + + + + + 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 + + + + + + + + 1964 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1964 + Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome + + Malformation syndrome + + + + + + + + 488618 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488618 + Transketolase deficiency + + Malformation syndrome + + + + + + + + 2109 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2109 + Hallermann-Streiff-like 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 + + + + + + + + 2183 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2183 + Hydrocephalus-obesity-hypogonadism syndrome + + Malformation syndrome + + + + + + + + 2714 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2714 + Oculo-palato-cerebral 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 + + + + + + + + 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 + + + + + + + + 476406 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=476406 + Congenital generalized hypercontractile muscle stiffness 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 + + + + + + + + + + 3191 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3191 + Subaortic stenosis-short stature 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 + + + + + + + + 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 + + + + + + + + 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 + + + + + + + + 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 + + + + + + + + 592574 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=592574 + Menke-Hennekam syndrome + + Malformation syndrome + + + + + + + + 694946 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=694946 + Alazami-Yuan syndrome + + Malformation syndrome + + + + + + + + 686488 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=686488 + RNU4-2-related autosomal dominant neurodevelopmental disorder + + 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 + + + + + + + + 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 + + + + + + + + + + 139024 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139024 + Overgrowth/obesity syndrome + + Category + + + + + + 93460 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93460 + Overgrowth syndrome + + 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 + + + + + + + + + + 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 + + + + + + + + 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 + + + + + + + + 109 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=109 + Bannayan-Riley-Ruvalcaba syndrome + + Clinical subtype + + + + + + + + 1926 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1926 + Diabetic embryopathy + + Malformation syndrome + + + + + + + + 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 + + + + + + + + 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 + + + + + + + + + + + + 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 + + + + + + + + 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 + + + + + + + + 90307 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90307 + Parkes Weber syndrome + + Disease + + + + + + + + 293964 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293964 + Hypoinsulinemic hypoglycemia and body hemihypertrophy + + Disease + + + + + + + + 404443 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=404443 + Tatton-Brown-Rahman syndrome + + Malformation syndrome + + + + + + + + 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 + + + + + + 659396 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=659396 + Cohen-Gibson syndrome + + Malformation syndrome + + + + + + + + 3447 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3447 + Weaver syndrome + + Malformation syndrome + + + + + + + + 659463 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=659463 + Imagawa-Matsumoto syndrome + + Malformation syndrome + + + + + + + + + + + + 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 + + + + + + + + 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 + + + + + + + + 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 + + + + + + + + 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 + + + + + + + + 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 + + + + + + + + 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 + + + + + + + + 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 + + + + + + + + + + + + 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 + + + + + + + + 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 + + + + + + + + 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 + + + + + + + + 2930 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2930 + Cronkhite-Canada syndrome + + Disease + + + + + + + + 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 + + + + + + + + + + 139033 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139033 + Progeroid syndrome + + Category + + + + + + 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 + + + + + + + + 659873 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=659873 + Wormian bones-micrognathia-abnormal dentition-progeroid 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 + + + + + + + + + + 647667 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=647667 + Mandibuloacral dysplasia associated to MTX2 + + Malformation syndrome + + + + + + + + 90342 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90342 + Xeroderma pigmentosum variant + + Disease + + + + + + + + + + 139036 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139036 + 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 + + + + + + + + 90652 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90652 + Otopalatodigital syndrome type 2 + + Malformation syndrome + + + + + + + + 567 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=567 + 22q11.2 deletion 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 + + + + + + + + 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 + Orofaciodigital syndrome type 18 + + 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 + + + + + + + + + + 139042 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139042 + 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 + + + + + + + + 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 + + + + + + + + + + 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 + + + + + + + + 1452 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1452 + Cleidocranial dysplasia + + Malformation syndrome + + + + + + + + 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 + + + + + + + + 1660 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1660 + Dermoodontodysplasia + + Malformation syndrome + + + + + + + + 1811 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1811 + Odontomicronychial dysplasia + + 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 + + + + + + + + 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 + + + + + + + + 562559 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=562559 + Anterior maxillary protrusion-strabismus-intellectual disability syndrome + + 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 + + + + + + + + 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 + + + + + + + + 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 + + + + + + + + + + 284149 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284149 + Craniosynostosis-dental anomalies + + Malformation syndrome + + + + + + + + 401911 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401911 + AXIN2-related polyposis + + Disease + + + + + + + + 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 + + + + + + + + 363417 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363417 + Temtamy preaxial brachydactyly 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 + + + + + + + + 659873 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=659873 + Wormian bones-micrognathia-abnormal dentition-progeroid 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 + + + + + + + + 684232 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=684232 + Intellectual disability-epilepsy-dental anomalies-facial dysmorphism 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 + + + + + + + + 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 + + + + + + + + 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 + + + + + + + + + + 155832 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=155832 + Rare head and neck malformation + + Category + + + + + + 1991 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1991 + Cleft lip with or without cleft palate + + Clinical group + + + + + + 141291 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141291 + Cleft lip and alveolus + + Morphological anomaly + + + + + + + + 199302 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199302 + Isolated cleft lip + + Morphological anomaly + + + + + + + + 199306 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199306 + Cleft lip/palate + + Morphological anomaly + + + + + + + + + + 2699 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2699 + Median nodule of the upper lip + + Malformation syndrome + + + + + + + + 2014 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2014 + Cleft palate + + Clinical group + + + + + + 99771 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99771 + Bifid uvula + + Morphological anomaly + + + + + + + + 99772 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99772 + Cleft velum + + Morphological anomaly + + + + + + + + 101023 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101023 + Cleft hard palate + + Morphological anomaly + + + + + + + + 155878 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=155878 + Submucosal cleft palate + + Morphological anomaly + + + + + + + + 664372 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=664372 + Soft and hard cleft palate + + Morphological anomaly + + + + + + + + + + 1166 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1166 + Congenital unilateral hypoplasia of depressor anguli oris + + Morphological anomaly + + + + + + + + 96333 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96333 + Rare otorhinolaryngological malformation + + Category + + + + + + 155835 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=155835 + Cysts and fistulae of the face and oral cavity + + Category + + + + + + 93953 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93953 + Familial thyroglossal duct cyst + + Morphological anomaly + + + + + + + + 141013 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141013 + First branchial cleft anomaly + + Morphological anomaly + + + + + + + + 141022 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141022 + Second branchial cleft anomaly + + Morphological anomaly + + + + + + + + 141030 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141030 + Third branchial cleft anomaly + + Morphological anomaly + + + + + + + + 141037 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141037 + Fourth branchial cleft anomaly + + Morphological anomaly + + + + + + + + 141046 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141046 + Cervical dermoid cyst + + Morphological anomaly + + + + + + + + 141051 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141051 + Facial dermoid cyst + + Morphological anomaly + + + + + + + + 141061 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141061 + Commissural lip fistula + + Morphological anomaly + + + + + + + + 141064 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141064 + Isolated lower lip fistula + + Morphological anomaly + + + + + + + + 141067 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141067 + Cervicofacial fibrochondroma + + Morphological anomaly + + + + + + + + 141071 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141071 + Isolated digestive duplication cyst of the tongue + + Morphological anomaly + + + + + + + + 141103 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141103 + Nasal dermoid cyst + + Morphological anomaly + + + + + + + + 141219 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141219 + Nasal dorsum fistula + + Morphological anomaly + + + + + + + + 155838 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=155838 + Pinnae fistula or cyst + + Morphological anomaly + + + + + + + + + + 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 + + + + + + + + + + 156246 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156246 + Nose and cavum anomaly + + Category + + + + + + 99141 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99141 + Lymphedema-posterior choanal atresia syndrome + + 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 + + + + + + + + 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 + + + + + + + + 1134 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1134 + Isolated arrhinia + + 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 + + + + + + + + 137914 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137914 + Choanal atresia + + Morphological anomaly + + + + + + 137917 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137917 + Choanal atresia, unilateral + + Clinical subtype + + + + + + + + 137920 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137920 + Choanal atresia, bilateral + + Clinical subtype + + + + + + + + + + 141083 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141083 + Nasolacrimal duct cyst + + Morphological anomaly + + + + + + + + 141091 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141091 + Polyrrhinia + + Malformation syndrome + + + + + + + + 141096 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141096 + Supernumerary nostril + + Malformation syndrome + + + + + + + + 141099 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141099 + Proboscis lateralis + + Malformation syndrome + + + + + + + + 141112 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141112 + Nasal glial heterotopia + + Disease + + + + + + + + 141118 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141118 + Nasal encephalocele + + Clinical subtype + + + + + + + + 157832 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157832 + Craniorhiny + + Malformation syndrome + + + + + + + + 162516 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=162516 + Isolated congenital nasal pyriform aperture stenosis + + Malformation syndrome + + + + + + + + 217266 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217266 + BNAR syndrome + + Malformation syndrome + + + + + + + + 466695 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466695 + Supratip dysplasia + + Morphological anomaly + + + + + + + + 451612 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=451612 + Familial congenital nasolacrimal duct obstruction + + Morphological anomaly + + + + + + + + 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 + + + + + + + + + + 156249 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156249 + 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 + + + + + + + + 2372 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2372 + Laryngocele + + Malformation syndrome + + + + + + + + 2004 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2004 + Laryngotracheoesophageal cleft + + Morphological anomaly + + + + + + 93938 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93938 + Laryngotracheoesophageal cleft type 1 + + 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 + + + + + + + + 93941 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93941 + Laryngotracheoesophageal cleft type 4 + + Clinical subtype + + + + + + + + 280205 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280205 + Laryngotracheoesophageal cleft type 0 + + Clinical subtype + + + + + + + + + + 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 + + + + + + + + 137926 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137926 + Primary laryngeal lymphangioma + + Malformation syndrome + + + + + + + + 137932 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137932 + Congenital laryngeal palsy + + Malformation syndrome + + + + + + + + 137935 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137935 + Airway infantile hemangioma + + Disease + + + + + + + + 141121 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141121 + Congenital subglottic stenosis + + Malformation syndrome + + + + + + + + 141124 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141124 + Congenital laryngeal cyst + + Morphological anomaly + + + + + + + + + + 156252 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=156252 + Tracheal anomaly + + Category + + + + + + 3346 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3346 + Tracheal agenesis + + Morphological anomaly + + + + + + + + 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 + + + + + + + + + + 164004 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=164004 + Middle and/or inner ear anomaly + + Category + + + + + + 502318 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=502318 + Cochlear nerve deficiency + + Morphological anomaly + + + + + + + + 686556 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=686556 + Isolated congenital cholesteatoma of the middle ear + + Morphological anomaly + + + + + + + + 502305 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=502305 + Cochleovestibular malformation + + Morphological anomaly + + + + + + + + 162526 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=162526 + Isolated congenital auditory ossicle malformation + + Morphological anomaly + + + + + + + + + + 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 + + + + + + 1296 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1296 + Lambert syndrome + + Malformation syndrome + + + + + + + + 107 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=107 + BOR syndrome + + Malformation syndrome + + + + + + + + + + + + + + 141229 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141229 + Facial cleft + + Category + + + + + + 141234 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141234 + Median facial cleft + + Clinical group + + + + + + 2006 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2006 + Median cleft lip/mandible + + Morphological anomaly + + + + + + + + 1791 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1791 + Frontofacionasal dysplasia + + Malformation syndrome + + + + + + + + 2695 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2695 + Bifid nose + + Malformation syndrome + + + + + + + + 141239 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141239 + Median cleft of the upper lip and maxilla + + Morphological anomaly + + + + + + + + 141288 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141288 + Midline cervical 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 + + + + + + + + + + 141253 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141253 + Oblique facial cleft + + Clinical group + + + + + + 141258 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141258 + Tessier number 4 facial cleft + + Morphological anomaly + + + + + + + + 141261 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141261 + Tessier number 5 facial cleft + + Morphological anomaly + + + + + + + + 141265 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141265 + Tessier number 6 facial cleft + + Morphological anomaly + + + + + + + + 155884 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=155884 + Coloboma of superior eyelid + + Morphological anomaly + + + + + + + + 155889 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=155889 + Coloboma of inferior eyelid + + 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 + + + + + + + + + + 155867 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=155867 + Paramedian facial cleft + + Clinical group + + + + + + 141242 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141242 + Paramedian nasal cleft + + Morphological anomaly + + + + + + + + + + + + 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 + + + + + + + + + + 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 + Orofaciodigital syndrome type 18 + + 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 + + + + + + 458833 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=458833 + Common cystic lymphatic malformation + + Clinical group + + + + + + 79489 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79489 + Macrocystic lymphatic malformation + + Malformation syndrome + + + + + + + + 79490 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79490 + Microcystic lymphatic malformation + + Malformation syndrome + + + + + + + + 458792 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=458792 + Mixed cystic lymphatic malformation + + Malformation syndrome + + + + + + + + + + 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 + + + + + + + + + + 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 + + + + + + + + 138044 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=138044 + Rare disease with Pierre Robin syndrome + + Category + + + + + + 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 + + + + + + + + + + 138059 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=138059 + Teratogenic Pierre Robin syndrome + + Category + + + + + + 1920 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1920 + Toluene embryopathy + + Malformation syndrome + + + + + + + + 1923 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1923 + Methimazole embryofetopathy + + Malformation syndrome + + + + + + + + 1926 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1926 + Diabetic embryopathy + + Malformation syndrome + + + + + + + + 2209 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2209 + Maternal phenylketonuria syndrome + + Malformation syndrome + + + + + + + + 2216 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2216 + Maternal hyperthermia-induced birth defects + + Malformation syndrome + + + + + + + + 2305 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2305 + Isotretinoin syndrome + + Malformation syndrome + + + + + + + + 1915 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1915 + Fetal alcohol syndrome + + Malformation syndrome + + + + + + + + 295 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295 + Fetal parvovirus syndrome + + Malformation syndrome + + + + + + + + 1906 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1906 + Fetal valproate spectrum disorder + + Malformation syndrome + + + + + + + + 1908 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1908 + Aminopterin/methotrexate embryofetopathy + + Malformation syndrome + + + + + + + + 1909 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1909 + Indomethacin embryofetopathy + + Malformation syndrome + + + + + + + + 1910 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1910 + Fetal iodine syndrome + + Malformation syndrome + + + + + + + + 1911 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1911 + Cocaine embryofetopathy + + Malformation syndrome + + + + + + + + 1918 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1918 + Fetal minoxidil syndrome + + Malformation syndrome + + + + + + + + 1912 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1912 + Fetal hydantoin syndrome + + Malformation syndrome + + + + + + + + 1913 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1913 + Fetal trimethadione syndrome + + Malformation syndrome + + + + + + + + 1914 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1914 + Vitamin K antagonist embryofetopathy + + Malformation syndrome + + + + + + + + 1917 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1917 + Fetal methylmercury syndrome + + Malformation syndrome + + + + + + + + 1919 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1919 + Phenobarbital embryopathy + + Malformation syndrome + + + + + + + + 485358 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=485358 + Propylthiouracil embryofetopathy + + Malformation syndrome + + + + + + + + + + 364577 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=364577 + Intellectual disability-brachydactyly-Pierre Robin syndrome + + Malformation syndrome + + + + + + + + + + 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 type 1 + + 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 + + + + + + + + 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 + + + + + + + + 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 + + + + + + + + 1415 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1415 + Hardikar 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 + + + + + + + + 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 + + + + + + + + 660021 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=660021 + Orofacial clefting-cardiac anomalies-facial dysmorphism 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 + Orofaciodigital syndrome type 18 + + Malformation syndrome + + + + + + + + + + 141214 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141214 + Isolated congenital syngnathia + + Malformation syndrome + + + + + + + + 276280 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276280 + Hemihyperplasia-multiple lipomatosis 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 + + + + + + + + + + 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 + + + + + + + + + + + + + + 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 + + + + + + + + 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 + + + + + + 572333 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=572333 + Blepharophimosis-ptosis-epicanthus inversus syndrome plus + + Malformation syndrome + + + + + + + + 1621 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1621 + 3q13 microdeletion syndrome + + 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 + + + + + + + + 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 + + + + + + + + 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 + + + + + + + + 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 + + + + + + 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 + + + + + + + + 498488 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498488 + Overgrowth syndrome with 2q37 translocation + + Malformation syndrome + + + + + + + + + + + + 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 + + + + + + + + + + + + + + + + + + 68341 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=68341 + Multiple congenital anomalies/dysmorphic syndrome + + Category + + + + + + 459787 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=459787 + 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 + + + + + + + + 580933 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=580933 + Lethal brain and heart developmental defects + + 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 + + + + + + + + + + 527468 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=527468 + Diaphragmatic hernia-short bowel-asplenia syndrome + + Malformation syndrome + + + + + + + + 566847 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=566847 + Aprosencephaly/atelencephaly spectrum + + Morphological anomaly + + + + + + 566852 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=566852 + Atelencephaly + + Clinical subtype + + + + + + + + 566857 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=566857 + Aprosencephaly + + Clinical subtype + + + + + + + + + + 633099 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=633099 + PAICS deficiency + + Malformation syndrome + + + + + + + + 480528 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480528 + Lethal hydranencephaly-diaphragmatic hernia 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 + + + + + + + + 1681 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1681 + Diprosopus + + Morphological anomaly + + + + + + + + 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 + + + + + + + + 33108 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33108 + Lethal multiple pterygium syndrome + + Malformation syndrome + + + + + + + + 1972 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1972 + Lethal faciocardiomelic dysplasia + + Malformation syndrome + + + + + + + + 2432 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2432 + Macrosomia-microphthalmia-cleft palate 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 + + + + + + + + 3376 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3376 + Triploidy 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 + + + + + + + + 2077 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2077 + German syndrome + + Malformation syndrome + + + + + + + + + + 102283 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=102283 + Multiple congenital anomalies/dysmorphic syndrome-intellectual disability + + Category + + + + + + 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 + + + + + + + + 261584 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261584 + 5q22 microdeletion 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 + + + + + + + + 263508 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263508 + COG1-CDG + + Disease + + + + + + + + 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 + + + + + + + + 93932 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93932 + FG syndrome type 1 + + Disease + + + + + + + + 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 + + + + + + + + 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 + + + + + + + + 411511 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411511 + Angelman syndrome due to a point mutation + + Etiological subtype + + + + + + + + + + 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 + + + + + + + + 77299 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77299 + Microphthalmia-brain atrophy syndrome + + Malformation syndrome + + + + + + + + 96263 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96263 + 48,XXXY syndrome + + Malformation syndrome + + + + + + + + 88618 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88618 + S-adenosylhomocysteine hydrolase deficiency + + Disease + + + + + + + + 96264 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96264 + 49,XXXXY 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 + + + + + + + + 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 + + + + + + + + 85297 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85297 + X-linked spinocerebellar ataxia type 3 + + 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 + + + + + + + + 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 + + + + + + + + 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 + + + + + + + + + + 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 + + + + + + + + 210548 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210548 + Macrocephaly-intellectual disability-autism 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 + + + + + + + + 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 + + + + + + + + 324313 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324313 + 9p13 microdeletion 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 + + + + + + + + 435628 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435628 + Keppen-Lubinsky 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 + + + + + + + + 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 + + + + + + + + 53271 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53271 + Muenke syndrome + + Malformation syndrome + + + + + + + + 93473 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93473 + Hurler syndrome + + Clinical subtype + + + + + + + + 276432 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276432 + Ogden 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 + + + + + + + + 251019 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251019 + 2q32q33 deletion syndrome + + Malformation syndrome + + + + + + + + 46059 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=46059 + Lathosterolosis + + Disease + + + + + + + + 411493 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=411493 + Pontocerebellar hypoplasia type 10 + + 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 + + + + + + + + 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 + + + + + + + + 217335 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217335 + RIN2 syndrome + + Malformation syndrome + + + + + + + + 85194 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85194 + Spondylo-ocular 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 + + + + + + + + 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 + Helsmoortel-Van der Aa 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-eye abnormalities-microcephaly-peripheral spasticity 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 + + + + + + + + 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 + + + + + + + + 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 + + + + + + + + 228402 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228402 + 2q23.1 microdeletion 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 + + + + + + + + 35107 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35107 + Desmosterolosis + + Disease + + + + + + + + 818 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=818 + Smith-Lemli-Opitz syndrome + + Malformation syndrome + + + + + + + + 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 + + + + + + + + + + 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 + + + + + + + + + + + + 48431 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=48431 + Congenital cataracts-facial dysmorphism-neuropathy 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 + + + + + + + + 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 + + + + + + + + 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 + + + + + + + + 85284 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85284 + BRESEK 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 + + + + + + + + 137634 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137634 + Overgrowth-macrocephaly-facial dysmorphism syndrome + + 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 + + + + + + + + 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 + + + + + + + + 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 + + + + + + + + 85325 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=85325 + X-linked intellectual disability, Stevenson 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 + + + + + + + + 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 + + + + + + + + + + 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 + + + + + + + + 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 + + + + + + + + 141333 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141333 + Biemond syndrome type 2 + + Disease + + + + + + + + 199318 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=199318 + 15q13.3 microdeletion syndrome + + Malformation syndrome + + + + + + + + 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 + + + + + + + + 228426 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=228426 + Syndromic multisystem autoimmune disease due to Itch deficiency + + Disease + + + + + + + + 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 + + + + + + + + + + 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 + + + + + + 637013 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=637013 + SMARCA2-related blepharophimosis-intellectual disability syndrome + + Malformation syndrome + + + + + + + + 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 + + + + + + + + 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 + + + + + + + + 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 + + + + + + + + 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 + + + + + + + + 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 + + + + + + + + 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 + + + + + + + + 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 + + + + + + + + 811 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=811 + Shwachman-Diamond 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 + + + + + + + + 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 + + + + + + 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 + + + + + + + + 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 + + + + + + + + + + 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 + + + + + + + + 60040 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=60040 + Megalencephaly-capillary malformation-polymicrogyria syndrome + + Malformation syndrome + + + + + + + + 50811 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50811 + Lipodystrophy-intellectual disability-deafness syndrome + + Disease + + + + + + + + 36367 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=36367 + Distal deletion 1q syndrome + + Malformation syndrome + + + + + + + + 79094 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79094 + Grange syndrome + + Malformation syndrome + + + + + + + + 75496 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75496 + B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome + + Clinical subtype + + + + + + + + 50815 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=50815 + Branchiogenic deafness 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 + + + + + + + + 137831 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137831 + X-linked intellectual disability-cerebellar hypoplasia syndrome + + Disease + + + + + + + + 247262 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247262 + Hyperphosphatasia-intellectual disability 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 + + + + + + + + 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 + + + + + + + + 99812 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99812 + LIG4 syndrome + + Disease + + + + + + + + 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 + + + + + + + + 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 + + + + + + + + 69737 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69737 + Bosley-Salih-Alorainy syndrome + + Malformation syndrome + + + + + + + + 99741 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99741 + King-Denborough 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 + + + + + + + + 289553 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289553 + Dysmorphism-conductive hearing loss-heart defect 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 + + + + + + + + + + 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 + + + + + + + + 436003 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=436003 + Contractures-developmental delay-Pierre Robin syndrome + + Malformation syndrome + + + + + + + + 90652 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90652 + Otopalatodigital syndrome type 2 + + 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 + + + + + + + + + + 261323 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261323 + 21q22.11q22.12 microdeletion 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 + + + + + + + + 83472 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83472 + CAMOS 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 + + + + + + + + 1891 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1891 + Intellectual disability-spasticity-ectrodactyly syndrome + + Malformation syndrome + + + + + + + + 2058 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2058 + Fryns-Smeets-Thiry syndrome + + Malformation syndrome + + + + + + + + 3078 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3078 + Severe X-linked intellectual disability, Gustavson type + + 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 + + + + + + + + 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 + + + + + + + + 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 + + + + + + + + 1825 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1825 + Epiphyseal dysplasia-hearing loss-dysmorphism 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 + + + + + + + + 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 + + + + + + + + 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 + + + + + + + + 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 + + + + + + + + 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 + + + + + + + + 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 + + + + + + + + 2261 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2261 + Hypospadias-intellectual disability, Goldblatt type 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 + + + + + + + + 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 + + + + + + + + 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 + + + + + + + + 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 + + + + + + + + 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 + + + + + + + + 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 + + + + + + + + 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 dysplasia + + 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 + + + + + + + + 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 + + + + + + + + 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 + + + + + + + + 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 + + + + + + + + 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 + + + + + + + + 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 + + + + + + + + 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 + + + + + + + + 3044 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3044 + Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus 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 + + + + + + + + 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 + + + + + + + + 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 + + + + + + + + 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 + + + + + + + + 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 + + + + + + + + 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 + + + + + + + + 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 + + + + + + + + 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 + + + + + + + + 2117 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2117 + Hartsfield 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 + + + + + + + + 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 + + + + + + + + 2710 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2710 + Oculodentodigital dysplasia + + Malformation syndrome + + + + + + + + 1662 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1662 + Restrictive dermopathy + + Disease + + + + + + + + 3338 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3338 + Toriello-Carey syndrome + + Malformation syndrome + + + + + + + + 556955 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=556955 + Pancreatic agenesis-holoprosencephaly syndrome + + Disease + + + + + + + + 544503 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=544503 + RNF13-related severe early-onset epileptic encephalopathy + + Disease + + + + + + + + 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 + + + + + + + + 506358 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=506358 + Gabriele-de Vries 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 + + + + + + + + 580940 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=580940 + QRICH1-related intellectual disability-chondrodysplasia syndrome + + Malformation syndrome + + + + + + + + 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 + + + + + + + + 500533 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=500533 + Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome + + Disease + + + + + + + + 138 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=138 + CHARGE syndrome + + 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 + + + + + + + + + + 502430 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=502430 + Weiss-Kruszka 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 + + + + + + + + 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 + + + + + + + + 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 + + + + + + + + 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 + + + + + + + + 1239 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1239 + Behr 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 + + + + + + + + 1964 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1964 + Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome + + Malformation syndrome + + + + + + + + 2896 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2896 + Pitt-Hopkins syndrome + + Malformation syndrome + + + + + + + + 2919 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2919 + Orofaciodigital syndrome type 5 + + Malformation syndrome + + + + + + + + 502437 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=502437 + 4q25 proximal deletion syndrome + + Malformation syndrome + + + + + + + + 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 + + + + + + + + 90650 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90650 + Otopalatodigital syndrome type 1 + + 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 + + + + + + + + 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 + + + + + + + + 477817 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=477817 + PMP22-RAI1 contiguous gene duplication 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 + + + + + + + + 300573 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300573 + Polymicrogyria due to TUBB2B mutation + + 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 + + + + + + + + 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 + + + + + + + + 2479 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2479 + Megalocornea-intellectual disability syndrome + + Malformation syndrome + + + + + + + + 337 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=337 + Fibrodysplasia ossificans progressiva + + 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 + + + + + + + + + + 475 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=475 + Isolated Joubert syndrome + + Malformation syndrome + + + + + + + + 2512 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2512 + Autosomal recessive primary microcephaly + + Etiological subtype + + + + + + + + 239 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=239 + Dyggve-Melchior-Clausen disease + + Disease + + + + + + + + 84 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=84 + Fanconi anemia + + Malformation syndrome + + + + + + + + 2052 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2052 + Fraser 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 + + + + + + + + 1078 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1078 + Thumb stiffness-brachydactyly-intellectual disability 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 + + + + + + + + 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 + + + + + + + + 576 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=576 + Mucolipidosis type II + + 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 + + + + + + + + + + 1465 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1465 + Coffin-Siris 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 + + + + + + + + 235 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=235 + Dubowitz syndrome + + Malformation syndrome + + + + + + + + 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 + + + + + + + + 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 + + + + + + + + 1308 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1308 + C 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 + + + + + + + + 1064 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1064 + Aniridia-renal agenesis-psychomotor retardation 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 + + + + + + + + 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 + + + + + + + + 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 + + + + + + + + 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 + + + + + + + + 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 + + + + + + + + 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 + + + + + + + + 893 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=893 + WAGR syndrome + + Malformation syndrome + + + + + + + + 447980 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447980 + 19p13.3 microduplication 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 + + + + + + + + 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 + + + + + + + + + + 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 + + + + + + + + + + 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 + + + + + + + + 468678 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=468678 + White-Sutton syndrome + + Disease + + + + + + + + 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 + + + + + + + + 468699 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=468699 + SLC39A8-CDG + + Disease + + + + + + + + 3101 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3101 + Richieri Costa-da Silva 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 + + + + + + + + 2233 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2233 + Hypogonadism-mitral valve prolapse-intellectual disability syndrome + + Disease + + + + + + + + 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 + + + + + + + + 2318 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2318 + Joubert syndrome with oculorenal defect + + 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 + + + + + + + + 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 + + + + + + + + 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 + + + + + + + + 1321 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1321 + Camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome + + Malformation syndrome + + + + + + + + 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 + + + + + + + + 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 + + + + + + + + 166035 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=166035 + Brachydactyly-short stature-retinitis pigmentosa syndrome + + Malformation syndrome + + + + + + + + 506307 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=506307 + Stromme 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 + + + + + + + + 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 + ZTTK 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 + + + + + + + + 280 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=280 + Wolf-Hirschhorn 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 + + + + + + + + 494344 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=494344 + RERE-related neurodevelopmental 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 + + + + + + + + 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 + + + + + + + + 870 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=870 + Down 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 + + + + + + + + 3010 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3010 + Qazi-Markouizos syndrome + + Disease + + + + + + + + 2523 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2523 + Microcephaly-brain defect-spasticity-hypernatremia syndrome + + Malformation syndrome + + + + + + + + 87 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=87 + Apert syndrome + + Malformation syndrome + + + + + + + + 192 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=192 + Coffin-Lowry syndrome + + Malformation syndrome + + + + + + + + 568 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=568 + Microphthalmia, Lenz type + + Malformation syndrome + + + + + + + + 3019 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3019 + Ramon 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 + + + + + + + + 1493 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1493 + Vici syndrome + + Malformation syndrome + + + + + + + + 647 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=647 + Nijmegen breakage syndrome + + Malformation syndrome + + + + + + + + 1496 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1496 + Corpus callosum agenesis-neuronopathy syndrome + + Disease + + + + + + + + 974 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=974 + Adams-Oliver 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 + + + + + + + + 1488 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1488 + Cooper-Jabs syndrome + + Malformation syndrome + + + + + + + + 2720 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2720 + Oculocerebral hypopigmentation syndrome, Preus type + + Malformation syndrome + + + + + + + + 2719 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2719 + Oculocerebral hypopigmentation syndrome, Cross type + + 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 + + + + + + + + + + 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 + + + + + + + + 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 + + + + + + + + 2556 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2556 + Microphthalmia with linear skin defects 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 + + + + + + + + 1229 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1229 + Pseudo-TORCH syndrome type 1 + + Malformation syndrome + + + + + + + + 1399 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1399 + Richards-Rundle 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 + + + + + + + + 2278 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2278 + Ichthyosis-intellectual disability-dwarfism-renal impairment 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 + + + + + + + + 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 + + + + + + + + 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 + + + + + + + + 589435 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=589435 + Spondylometaphyseal dysplasia-corneal dystrophy 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 + + + + + + + + 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 + + + + + + + + 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 + + + + + + + + 2518 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2518 + Autosomal recessive chorioretinopathy-microcephaly 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 + + + + + + + + 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 + + + + + + + + + + 352587 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=352587 + Focal epilepsy-intellectual disability-cerebro-cerebellar malformation + + Disease + + + + + + + + 1052 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1052 + Mosaic variegated aneuploidy syndrome + + Malformation syndrome + + + + + + + + 3103 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3103 + Roberts syndrome + + Malformation syndrome + + + + + + + + 3472 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3472 + Yunis-Varon syndrome + + Malformation syndrome + + + + + + + + 2470 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2470 + Matthew-Wood syndrome + + Malformation syndrome + + + + + + + + 2209 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2209 + Maternal phenylketonuria syndrome + + Malformation syndrome + + + + + + + + 2792 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2792 + Otofaciocervical syndrome + + Malformation syndrome + + + + + + + + 2662 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2662 + Keipert syndrome + + Malformation syndrome + + + + + + + + 1438 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1438 + Ring chromosome 10 syndrome + + Malformation syndrome + + + + + + + + 1532 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1532 + Gómez-López-Hernández 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 + + + + + + + + 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 + + + + + + + + 2324 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2324 + Osteopenia-intellectual disability-sparse hair 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 + + + + + + + + 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 + + + + + + + + 94063 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=94063 + 12q14 microdeletion syndrome + + 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 + + + + + + + + 1520 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1520 + Craniofrontonasal dysplasia + + Malformation syndrome + + + + + + + + 2750 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2750 + Orofaciodigital syndrome type 1 + + Malformation syndrome + + + + + + + + 3063 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3063 + X-linked intellectual disability, Snyder type + + Disease + + + + + + + + 3459 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3459 + Wilson-Turner 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 + + + + + + + + 530983 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=530983 + Lamb-Shaffer syndrome + + Disease + + + + + + 313884 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313884 + 12p12.1 microdeletion syndrome + + Clinical subtype + + + + + + + + 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 + + + + + + + + + + 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 + + + + + + + + 648 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=648 + Noonan syndrome + + Malformation syndrome + + + + + + + + 915 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=915 + Aarskog-Scott syndrome + + Malformation syndrome + + + + + + + + 821 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=821 + Sotos syndrome + + Disease + + + + + + + + 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 + + + + + + + + 1358 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1358 + Carey-Fineman-Ziter 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 + + + + + + + + 1517 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1517 + Cantú syndrome + + Malformation syndrome + + + + + + + + 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 + + + + + + + + 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 + + + + + + + + 561 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=561 + Marshall-Smith syndrome + + Malformation syndrome + + + + + + + + 110 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=110 + Bardet-Biedl syndrome + + Disease + + + + + + + + 353298 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=353298 + Roifman 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 + + + + + + + + 611247 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=611247 + Pontocerebellar hypoplasia type 11 + + 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 + + + + + + + + 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 + + + + + + + + 611201 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=611201 + Oculogastrointestinal-neurodevelopmental 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 + + + + + + + + 603689 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=603689 + KLHL7-related Bohring-Opitz-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 + + + + + + + + + + 10 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=10 + 48,XXYY syndrome + + 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 + + + + + + + + 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 + + + + + + + + + + 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 + + + + + + + + 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 + + + + + + + + 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 + + + + + + + + 597738 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=597738 + Luscan-Lumish 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 + + + + + + + + 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 + + + + + + + + 2266 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2266 + Hypotrichosis-intellectual disability, Lopes type + + 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 + + + + + + + + + + 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 + + + + + + + + + + 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 + + + + + + + + 3052 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3052 + X-linked intellectual disability-seizures-psoriasis 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 + + + + + + + + 1553 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1553 + Curry-Jones syndrome + + 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 + + + + + + + + 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 + + + + + + + + + + 912 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=912 + Zellweger syndrome + + Disease + + + + + + + + 1827 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1827 + Acromelic frontonasal dysplasia + + Malformation syndrome + + + + + + + + 1667 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1667 + Wolcott-Rallison syndrome + + Disease + + + + + + + + 1458 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1458 + CODAS syndrome + + Malformation syndrome + + + + + + + + 2886 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2886 + TARP 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 + + + + + + + + 684742 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=684742 + 2q13 microdeletion syndrome + + 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 + + + + + + + + 684226 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=684226 + Intellectual disability-hypotonia-facial dysmorphism-macrocephaly 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 autosomal dominant neurodevelopmental disorder + + 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 + + + + + + + + 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 + + + + + + + + 619233 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=619233 + Hereditary persistence of fetal hemoglobin-intellectual disability 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 + + + + + + + + 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 + + + + + + + + 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 + + + + + + + + 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 + + + + + + + + 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 + + + + + + + + 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 + + + + + + + + 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 + + + + + + + + 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 + + + + + + + + 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 + + + + + + + + + + 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 + + + + + + + + 656135 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=656135 + Intellectual disability-cupped ears syndrome + + 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 + + + + + + + + 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 + + + + + + + + 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 + + + + + + + + 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 + + + + + + + + 659387 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=659387 + PRC-2 complex-related overgrowth spectrum + + Clinical group + + + + + + 659396 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=659396 + Cohen-Gibson syndrome + + Malformation syndrome + + + + + + + + 3447 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3447 + Weaver 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-epilepsy-dental anomalies-facial dysmorphism syndrome + + Malformation syndrome + + + + + + + + 950 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=950 + Acrodysostosis + + 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 + + + + + + + + 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 + + + + + + + + 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 + + + + + + + + + + 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 + + + + + + + + 1436 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1436 + X-linked skeletal dysplasia-intellectual disability syndrome + + Malformation syndrome + + + + + + + + 2339 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2339 + Keratosis follicularis-dwarfism-cerebral atrophy syndrome + + Malformation syndrome + + + + + + + + 3454 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3454 + Wieacker-Wolff 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 + + + + + + + + + + 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 + + + + + + + + 1300 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1300 + Autosomal dominant popliteal pterygium syndrome + + Malformation syndrome + + + + + + + + 1454 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1454 + Joubert syndrome with hepatic defect + + Disease + + + + + + + + 3138 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3138 + Ulnar-mammary syndrome + + Malformation syndrome + + + + + + + + 3163 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3163 + SHORT syndrome + + Malformation syndrome + + + + + + + + 2538 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2538 + Microgastria-limb reduction defect 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 + + + + + + + + 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 + + + + + + + + 2135 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2135 + Cutaneous mastocytosis-deafness-microtia syndrome + + 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 + + + + + + + + 1393 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1393 + Cerebrocostomandibular syndrome + + 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 + + + + + + + + 672 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=672 + Pallister-Hall syndrome + + Malformation syndrome + + + + + + + + 2514 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2514 + Autosomal dominant primary microcephaly + + Etiological subtype + + + + + + + + 2557 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2557 + Mietens syndrome + + Malformation syndrome + + + + + + + + 798 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=798 + Schinzel-Giedion syndrome + + Malformation syndrome + + + + + + + + + + 102285 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=102285 + Multiple congenital anomalies/dysmorphic syndrome without intellectual disability + + Category + + + + + + 71271 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71271 + Split hand-split foot-deafness 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 + + + + + + + + 2062 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2062 + Progressive non-infectious anterior vertebral fusion + + 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 + + + + + + + + 1655 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1655 + Müllerian derivatives-lymphangiectasia-polydactyly 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 + + + + + + + + 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 + + + + + + + + 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 + + + + + + + + 887 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=887 + VACTERL/VATER association + + 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 type 1 + + 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 + + + + + + + + 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 + + + + + + + + 488232 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488232 + Split-foot malformation-mesoaxial polydactyly 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 + + + + + + + + 2717 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2717 + Oculotrichoanal 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 + + + + + + + + 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 + + + + + + + + 2835 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2835 + Pectus excavatum-macrocephaly-dysplastic nails 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 + + + + + + + + 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 + + + + + + + + 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 + + + + + + + + 2793 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2793 + Otoonychoperoneal syndrome + + Malformation syndrome + + + + + + + + 496751 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=496751 + EVEN-plus 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 + + + + + + + + 685067 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=685067 + Hypodontia-scalp hypotrichosis-facial dysmorphism 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 + + + + + + + + 688581 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=688581 + Midface hypoplasia-hearing impairment-elliptocytosis-nephrocalcinosis 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 + + + + + + + + 647811 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=647811 + Cardiac-urogenital 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 + + + + + + + + 567502 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=567502 + B-cell immunodeficiency-limb anomaly-urogenital malformation 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 + + + + + + + + 3191 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3191 + Subaortic stenosis-short stature 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 + + + + + + + + + + + + 68378 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=68378 + Congenital limb malformation + + Category + + + + + + 109009 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=109009 + Syndrome with limb malformations as a major feature + + Category + + + + + + 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 + + + + + + + + 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 + + + + + + + + 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 + + + + + + + + 1275 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1275 + Brachydactyly-elbow wrist dysplasia syndrome + + Malformation syndrome + + + + + + + + 93388 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93388 + Brachydactyly type A1 + + 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 + + + + + + + + + + 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 + + + + + + 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 + + + + + + + + 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 + + + + + + + + 1465 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1465 + Coffin-Siris syndrome + + Malformation syndrome + + + + + + + + 3433 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3433 + Microcephaly-brachydactyly-kyphoscoliosis 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 + + + + + + + + 1278 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1278 + Brachydactyly-preaxial hallux varus syndrome + + Malformation syndrome + + + + + + + + 2956 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2956 + Acrodysplasia scoliosis + + Malformation syndrome + + + + + + + + 1292 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1292 + Brachymorphism-onychodysplasia-dysphalangism 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 + + + + + + + + 52056 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52056 + Ulnar/fibula ray defect-brachydactyly 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 + + + + + + + + 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 + + + + + + + + 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 + + + + + + + + + + 974 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=974 + Adams-Oliver 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 + + + + + + + + 65743 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65743 + Autosomal dominant multiple pterygium 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 + + + + + + + + + + 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 + + + + + + + + 488586 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488586 + Congenital amyoplasia + + 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 + + + + + + + + 210163 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210163 + Congenital lethal myopathy, Compton-North type + + Disease + + + + + + + + 994 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=994 + Fetal akinesia deformation sequence + + Malformation syndrome + + + + + + + + 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 + + + + + + + + + + 294955 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294955 + Syndrome with limb reduction defects + + Category + + + + + + 488232 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488232 + Split-foot malformation-mesoaxial polydactyly 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 + + + + + + + + 1354 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1354 + Heart defects-limb shortening 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 + + + + + + + + 392 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=392 + Holt-Oram 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 + + + + + + + + 3312 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3312 + Thalidomide embryopathy + + 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 + + + + + + + + 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 + + + + + + + + 1891 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1891 + Intellectual disability-spasticity-ectrodactyly syndrome + + Malformation syndrome + + + + + + + + 2492 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2492 + FATCO 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 + + + + + + + + 221139 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221139 + Combined immunodeficiency with facio-oculo-skeletal anomalies + + Disease + + + + + + + + 1326 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1326 + Camptodactyly syndrome, Guadalajara type 2 + + Malformation syndrome + + + + + + + + + + 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 + Orofaciodigital syndrome type 18 + + 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 + + + + + + + + + + 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 + + + + + + + + + + 465824 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=465824 + Fetal encasement 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 + + + + + + + + + + 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 + + + + + + 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 + + + + + + + + 498491 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498491 + Non-syndromic complete hemimelia + + Category + + + + + + 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 + + + + + + + + 294979 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294979 + Isolated absence of both forearm and hand + + 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 + + + + + + + + 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 + + + + + + 295004 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295004 + Central polydactyly + + Morphological anomaly + + + + + + + + 498494 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498494 + Mirror-image 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 + + + + + + + + + + 295000 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295000 + Amniotic band syndrome + + Malformation syndrome + + + + + + + + + + 68419 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=68419 + Rare vascular anomaly + + Category + + + + + + 211266 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=211266 + Fast-flow vascular malformation + + Category + + + + + + 715762 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=715762 + Unifocal fast-flow vascular malformation + + Clinical group + + + + + + 707944 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=707944 + Peripheral fast-flow vascular malformation + + Clinical group + + + + + + 708051 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=708051 + Peripheral congenital arteriovenous fistula + + Malformation syndrome + + + + + + + + 708007 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=708007 + Intramuscular fast-flow vascular anomaly + + Malformation syndrome + + + + + + + + 708046 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=708046 + Peripheral arteriovenous malformation + + Malformation syndrome + + + + + + + + + + 715744 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=715744 + Fast-flow vascular malformation of the central nervous system + + Clinical group + + + + + + 715750 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=715750 + Intracranial fast-flow vascular malformation + + Clinical group + + + + + + 46724 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=46724 + Brain arteriovenous malformation + + Morphological anomaly + + + + + + + + 715292 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=715292 + Brain pial arteriovenous fistula + + Disease + + + + + + + + 715318 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=715318 + Acquired intracranial dural arteriovenous fistula + + Disease + + + + + + + + 97339 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97339 + Dural sinus malformation with arteriovenous shunt + + Morphological anomaly + + + + + + + + 692271 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=692271 + Cerebral proliferative angiopathy + + Disease + + + + + + + + 1053 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1053 + Vein of Galen malformation + + Morphological anomaly + + + + + + + + + + 715025 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=715025 + Spinal fast-flow vascular malformation + + Clinical group + + + + + + 715284 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=715284 + Spinal cord arteriovenous malformation + + Morphological anomaly + + + + + + + + 715302 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=715302 + Spinal pial arteriovenous fistula + + Disease + + + + + + + + 715307 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=715307 + Acquired spinal dural arteriovenous fistula + + Morphological anomaly + + + + + + + + 715326 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=715326 + Spinal epidural arteriovenous malformation + + Morphological anomaly + + + + + + + + 715331 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=715331 + Paraspinal arteriovenous malformation + + Morphological anomaly + + + + + + + + + + + + 715757 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=715757 + Metameric fast-flow vascular malformation + + Clinical group + + + + + + 53721 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53721 + Spinal arteriovenous metameric syndrome + + Malformation syndrome + + + + + + + + 141189 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141189 + Cerebrofacial arteriovenous metameric syndrome + + Malformation syndrome + + + + + + + + + + 693855 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=693855 + Visceral arteriovenous malformation + + Clinical group + + + + + + 693846 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=693846 + Hepatic arteriovenous malformation + + Malformation syndrome + + + + + + + + 693839 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=693839 + Renal arteriovenous malformation + + Malformation syndrome + + + + + + + + 693832 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=693832 + Gastrointestinal tract arteriovenous malformation + + Malformation syndrome + + + + + + + + 693863 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=693863 + Splenic arteriovenous malformation + + Malformation syndrome + + + + + + + + 693815 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=693815 + Uterine arteriovenous malformation + + Malformation syndrome + + + + + + + + 693826 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=693826 + Pancreatic arteriovenous malformation + + Malformation syndrome + + + + + + + + 693869 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=693869 + Gallblader arteriovenous malformation + + Malformation syndrome + + + + + + + + 693872 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=693872 + Urinary tract arteriovenous malformation + + Malformation syndrome + + + + + + + + 2038 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2038 + Pulmonary arteriovenous malformation + + Morphological anomaly + + + + + + + + + + 714698 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=714698 + Arteriovenous malformation of the thoraco-abdominal-pelvic cavity + + Clinical group + + + + + + 714709 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=714709 + Mediastinal arteriovenous malformation + + Morphological anomaly + + + + + + + + 714726 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=714726 + Retroperitoneal arteriovenous malformation + + Morphological anomaly + + + + + + + + 714715 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=714715 + Pelvic arteriovenous malformation + + Morphological anomaly + + + + + + + + 714702 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=714702 + Abdominal arteriovenous malformation + + Morphological anomaly + + + + + + + + + + + + 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 + + + + + + + + + + 774 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=774 + Hereditary hemorrhagic telangiectasia + + Disease + + + + + + + + 90307 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90307 + Parkes Weber syndrome + + Disease + + + + + + + + + + 211252 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=211252 + Slow-flow malformation, venous type + + Category + + + + + + 140944 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140944 + CLOVES syndrome + + Malformation syndrome + + + + + + + + 715339 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=715339 + Multifocal peripheral venous malformation + + Clinical group + + + + + + 2451 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2451 + Mucocutaneous venous malformations + + Malformation syndrome + + + + + + + + 714806 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=714806 + Multifocal sporadic venous malformation + + Morphological anomaly + + + + + + + + 83454 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83454 + Glomuvenous malformation + + Malformation syndrome + + + + + + + + 140436 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140436 + Familial intraosseous vascular malformation + + Disease + + + + + + + + 1059 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1059 + Blue rubber bleb nevus + + Malformation syndrome + + + + + + + + + + 715334 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=715334 + Unifocal peripheral venous malformation + + Clinical group + + + + + + 714785 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=714785 + Unifocal sporadic venous malformation + + Morphological anomaly + + + + + + + + 715923 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=715923 + Intraosseous venous malformation + + Morphological anomaly + + + + + + + + 464318 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464318 + Verrucous hemangioma + + Disease + + + + + + + + 699683 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699683 + Fibro-adipose vascular anomaly + + Disease + + + + + + + + 688523 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=688523 + Splenic venous malformation + + Disease + + + + + + + + 217008 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217008 + Segmental venous malformation + + Malformation syndrome + + + + + + + + 83454 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83454 + Glomuvenous malformation + + Malformation syndrome + + + + + + + + + + 717564 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=717564 + Dural sinus malformation without arteriovenous shunt + + Malformation syndrome + + + + + + + + 163634 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163634 + Maffucci syndrome + + Disease + + + + + + + + 714734 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=714734 + Sinus pericranii + + Morphological anomaly + + + + + + + + 221061 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=221061 + Familial cerebral cavernous malformation + + Malformation syndrome + + + + + + + + 90308 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90308 + Capillary-lymphatic-venous malformation with segmental distribution + + Disease + + + + + + + + + + 211247 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=211247 + Rare capillary malformation + + Category + + + + + + 95429 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95429 + Angioma serpiginosum + + Disease + + + + + + + + 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 + + + + + + + + + + 294016 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294016 + Microcephaly-capillary malformation syndrome + + Malformation syndrome + + + + + + + + 624 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=624 + Familial multiple nevi flammei + + Morphological anomaly + + + + + + + + 715446 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=715446 + Geographic pattern capillary malformation + + Clinical group + + + + + + 715460 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=715460 + Syndromic geographic pattern capillary malformation + + Clinical group + + + + + + 140944 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=140944 + CLOVES syndrome + + Malformation syndrome + + + + + + + + 168984 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168984 + CLAPO syndrome + + Malformation syndrome + + + + + + + + 90308 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90308 + Capillary-lymphatic-venous malformation with segmental distribution + + Disease + + + + + + + + + + 715345 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=715345 + Isolated geographic pattern capillary malformation + + 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 + + + + + + + + 276280 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276280 + Hemihyperplasia-multiple lipomatosis syndrome + + Malformation syndrome + + + + + + + + + + 715453 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=715453 + Reticulated capillary malformation + + Clinical group + + + + + + 715353 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=715353 + Isolated reticulated capillary malformation + + Morphological anomaly + + + + + + + + 60040 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=60040 + Megalencephaly-capillary malformation-polymicrogyria syndrome + + Malformation syndrome + + + + + + + + 714737 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=714737 + Diffuse capillary malformation with overgrowth + + Morphological anomaly + + + + + + + + + + 715463 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=715463 + Low resistance capillary malformation + + Clinical group + + + + + + 715359 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=715359 + Isolated low resistance capillary malformation + + Morphological anomaly + + + + + + + + 715466 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=715466 + Syndromic low resistance capillary malformation + + Clinical group + + + + + + 90307 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90307 + Parkes Weber syndrome + + 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 + + + + + + + + + + + + + + 3205 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3205 + Sturge-Weber syndrome + + Malformation syndrome + + + + + + + + 1556 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1556 + Cutis marmorata telangiectatica congenita + + Malformation syndrome + + + + + + + + + + 211255 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=211255 + Slow-flow malformation, lymphatic type + + Category + + + + + + 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 + + + + + + + + 569821 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=569821 + Congenital primary lymphedema of Gordon + + 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 + + + + + + + + + + 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 + + + + + + 1414 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1414 + Cholestasis-lymphedema syndrome + + Disease + + + + + + + + 90186 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90186 + Meige disease + + Disease + + + + + + + + 569816 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=569816 + CELSR1-related late-onset primary lymphedema + + Disease + + + + + + + + 568051 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=568051 + GJC2-related late-onset primary lymphedema + + Disease + + + + + + + + 33001 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33001 + Lymphedema-distichiasis syndrome + + Malformation syndrome + + + + + + + + 99141 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99141 + Lymphedema-posterior choanal atresia syndrome + + Malformation syndrome + + + + + + + + + + + + 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 + + + + + + + + 1116 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1116 + Aplasia cutis congenita-intestinal lymphangiectasia syndrome + + Disease + + + + + + + + 2136 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2136 + Hennekam syndrome + + Malformation syndrome + + + + + + + + 568065 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=568065 + EPHB4-related lymphatic-related hydrops fetalis + + 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 + + + + + + + + 568056 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=568056 + Warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome + + Disease + + + + + + + + 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 + + + + + + + + 86915 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86915 + Lymphedema-atrial septal defects-facial changes 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 + + + + + + 487796 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=487796 + Takenouchi-Kosaki syndrome + + Malformation syndrome + + + + + + + + 324 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324 + Fabry disease + + Disease + + + + + + + + 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 + + + + + + + + + + 742 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=742 + Prolidase deficiency + + Disease + + + + + + + + 1340 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1340 + Cardiofaciocutaneous 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 + + + + + + + + 69088 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69088 + Hypohidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome + + Disease + + + + + + + + 2710 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2710 + Oculodentodigital dysplasia + + Malformation syndrome + + + + + + + + 99807 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99807 + PEHO-like syndrome + + Disease + + + + + + + + 2836 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2836 + PEHO syndrome + + Disease + + + + + + + + 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 + + + + + + + + + + 805 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=805 + Tuberous sclerosis complex + + Disease + + + + + + + + + + + + 2415 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2415 + Isolated rare lymphatic malformation + + Category + + + + + + 458833 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=458833 + Common cystic lymphatic malformation + + Clinical group + + + + + + 79489 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79489 + Macrocystic lymphatic malformation + + Malformation syndrome + + + + + + + + 79490 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79490 + Microcystic lymphatic malformation + + Malformation syndrome + + + + + + + + 458792 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=458792 + Mixed cystic lymphatic malformation + + Malformation syndrome + + + + + + + + + + 464321 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464321 + Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome + + Disease + + + + + + + + 141209 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141209 + Diffuse lymphatic malformation + + Malformation syndrome + + + + + + + + 464329 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464329 + Kaposiform lymphangiomatosis + + Disease + + + + + + + + 73 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=73 + Gorham-Stout disease + + Malformation syndrome + + + + + + + + 99141 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99141 + Lymphedema-posterior choanal atresia syndrome + + Malformation syndrome + + + + + + + + + + + + 717582 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=717582 + Coagulation abnormality associated with a vascular anomaly + + Clinical group + + + + + + 2330 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2330 + Kasabach-Merritt phenomenon + + Particular clinical situation in a disease or syndrome + + + + + + + + 717585 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=717585 + Kasabach-Merritt-like phenomenon + + Particular clinical situation in a disease or syndrome + + + + + + + + 717593 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=717593 + Disseminated intravascular coagulation associated with a vascular anomaly + + Particular clinical situation in a disease or syndrome + + + + + + + + 717588 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=717588 + Localized intravascular coagulation + + Particular clinical situation in a disease or syndrome + + + + + + + + + + 458844 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=458844 + Rare vascular malformation of major vessels + + Category + + + + + + 98724 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98724 + Congenital anomaly of the great arteries + + Category + + + + + + 1132 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1132 + Aortic arch defects + + Category + + + + + + 99075 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99075 + Encircling double aortic arch + + Morphological anomaly + + + + + + + + 99076 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99076 + Persistent fifth aortic arch + + Morphological anomaly + + + + + + + + 99077 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99077 + Kommerell diverticulum + + Morphological anomaly + + + + + + + + 99078 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99078 + Neuhauser anomaly + + Morphological anomaly + + + + + + + + 99079 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99079 + Cervical aortic arch + + Morphological anomaly + + + + + + + + 99081 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99081 + Right aortic arch + + Morphological anomaly + + + + + + + + 99082 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99082 + Dysphagia lusoria + + Morphological anomaly + + + + + + + + + + 185 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=185 + Scimitar syndrome + + Malformation syndrome + + + + + + + + 95485 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95485 + Arterial duct anomaly + + Category + + + + + + 95486 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95486 + Premature closure of the arterial duct + + Morphological anomaly + + + + + + + + 99072 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99072 + Congenital patent ductus arteriosus aneurysm + + Morphological anomaly + + + + + + + + 466729 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466729 + Familial patent arterial duct + + Morphological anomaly + + + + + + + + + + 98718 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98718 + Aortic malformation + + Category + + + + + + 3193 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3193 + Supravalvular aortic stenosis + + Morphological anomaly + + + + + + + + 1457 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1457 + Coarctation of aorta + + Morphological anomaly + + + + + + + + 2299 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2299 + Aortic arch interruption + + Morphological anomaly + + + + + + + + 3092 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3092 + Fixed subaortic stenosis + + Morphological anomaly + + + + + + 99051 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99051 + Discrete fixed membranous subaortic stenosis + + Clinical subtype + + + + + + + + 99052 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99052 + Discrete fibromuscular subaortic stenosis + + Clinical subtype + + + + + + + + 99053 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99053 + Tunnel subaortic stenosis + + Clinical subtype + + + + + + + + + + 3093 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3093 + Congenital aortic valve stenosis + + Morphological anomaly + + + + + + 95448 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95448 + Congenital aortic valve atresia + + Clinical subtype + + + + + + + + 101043 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101043 + Congenital aortic valve dysplasia + + Clinical subtype + + + + + + + + + + 402075 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=402075 + Familial bicuspid aortic valve + + Morphological anomaly + + + + + + + + 1456 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1456 + Middle aortic syndrome + + Morphological anomaly + + + + + + + + 542568 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=542568 + Quadricuspid aortic valve + + Morphological anomaly + + + + + + + + + + 98719 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98719 + Pulmonary artery or pulmonary branch anomaly + + Category + + + + + + 1208 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1208 + Pulmonary atresia-intact ventricular septum syndrome + + Morphological anomaly + + + + + + + + 982 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=982 + Pulmonary valve agenesis + + Clinical group + + + + + + 99048 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99048 + Pulmonary valve agenesis-intact ventricular septum-persistent ductus arteriosus syndrome + + Malformation syndrome + + + + + + + + 101206 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101206 + Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome + + Malformation syndrome + + + + + + + + + + 980 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=980 + Absence of the pulmonary artery + + Morphological anomaly + + + + + + + + 3189 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3189 + Congenital pulmonary valvar stenosis + + Morphological anomaly + + + + + + 3190 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3190 + Subpulmonary stenosis + + Clinical subtype + + + + + + + + 3192 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3192 + Supravalvular pulmonary stenosis + + Clinical subtype + + + + + + + + 99054 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99054 + Valvular pulmonary stenosis + + Clinical subtype + + + + + + + + + + 1676 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1676 + Idiopathic pulmonary artery dilatation + + Disease + + + + + + + + 99083 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99083 + Pulmonary artery hypoplasia + + Morphological anomaly + + + + + + + + 99084 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99084 + Peripheral pulmonary stenosis + + Morphological anomaly + + + + + + + + + + 98725 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98725 + Ascending aorta anomaly + + Category + + + + + + 1054 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1054 + Aneurysm of sinus of Valsalva + + Morphological anomaly + + + + + + + + 3093 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3093 + Congenital aortic valve stenosis + + Morphological anomaly + + + + + + 95448 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95448 + Congenital aortic valve atresia + + Clinical subtype + + + + + + + + 101043 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101043 + Congenital aortic valve dysplasia + + Clinical subtype + + + + + + + + + + 3400 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3400 + Aorto-ventricular tunnel + + Morphological anomaly + + + + + + 99070 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99070 + Aorto-right ventricular tunnel + + Clinical subtype + + + + + + + + 99071 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99071 + Aorto-left ventricular tunnel + + Clinical subtype + + + + + + + + + + + + + + 363189 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363189 + Congenital anomaly of the great veins + + Category + + + + + + 3091 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3091 + Congenital systemic veins anomaly + + Category + + + + + + 95498 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95498 + Congenital anomaly of superior vena cava + + Category + + + + + + 652668 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=652668 + Primary superior vena cava aneurysm + + Malformation syndrome + + + + + + + + 99109 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99109 + Persistent left superior vena cava connecting through coronary sinus to left-sided atrium + + Morphological anomaly + + + + + + + + 99110 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99110 + Right superior vena cava connecting to left-sided atrium + + Morphological anomaly + + + + + + + + 99111 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99111 + Persistent left superior vena cava connecting to the roof of left-sided atrium + + Morphological anomaly + + + + + + + + 99112 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99112 + Absence of innominate vein + + Morphological anomaly + + + + + + + + 99113 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99113 + Subaortic course of innominate vein + + Morphological anomaly + + + + + + + + 99114 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99114 + Agenesis of the superior vena cava + + Morphological anomaly + + + + + + + + + + 95499 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95499 + Congenital anomaly of the inferior vena cava + + Category + + + + + + 652678 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=652678 + Primary inferior vena cava aneurysm + + Morphological anomaly + + + + + + + + 99119 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99119 + Right inferior vena cava connecting to left-sided atrium + + Morphological anomaly + + + + + + + + 99120 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99120 + Persistent eustachian valve + + Morphological anomaly + + + + + + + + 99121 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99121 + Azygos continuation of the inferior vena cava + + Morphological anomaly + + + + + + + + 99122 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99122 + Congenital stenosis of the inferior vena cava + + Morphological anomaly + + + + + + + + 99123 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99123 + Inferior vena cava interruption without azygos continuation + + Morphological anomaly + + + + + + + + + + 95500 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95500 + Congenital anomaly of the coronary sinus + + Category + + + + + + 99117 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99117 + Coronary sinus stenosis + + Morphological anomaly + + + + + + + + 99118 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99118 + Coronary sinus atresia + + Morphological anomaly + + + + + + + + + + 95507 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95507 + Congenital anomaly of hepatic vein + + Morphological anomaly + + + + + + + + 480531 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480531 + Congenital portosystemic shunt + + Morphological anomaly + + + + + + + + + + 98729 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98729 + Congenital pulmonary veins anomaly + + Category + + + + + + 3090 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3090 + Congenital pulmonary venous return anomaly + + Clinical group + + + + + + 99124 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99124 + Congenital partial pulmonary venous return anomaly + + Morphological anomaly + + + + + + + + 99125 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99125 + Congenital total pulmonary venous return anomaly + + Morphological anomaly + + + + + + + + + + 185 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=185 + Scimitar syndrome + + Malformation syndrome + + + + + + + + 3188 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3188 + Congenital pulmonary veins atresia or stenosis + + Clinical group + + + + + + 99126 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99126 + Congenital pulmonary vein atresia + + Morphological anomaly + + + + + + + + 642071 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=642071 + Primary pulmonary vein stenosis + + Disease + + + + + + + + + + + + + + 981 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=981 + Internal carotid absence + + Morphological anomaly + + + + + + + + 97598 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97598 + Congenital renal artery stenosis + + Disease + + + + + + + + 698260 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=698260 + Carotid web + + Disease + + + + + + + + 494424 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=494424 + Extracranial carotid artery aneurysm + + Morphological anomaly + + + + + + + + + + 458837 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=458837 + Rare combined vascular malformation + + Clinical group + + + + + + 717611 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=717611 + Capillary-venous malformation + + Morphological anomaly + + + + + + + + 717605 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=717605 + Capillary-lymphatic malformation + + Morphological anomaly + + + + + + + + 717598 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=717598 + Lymphatic-venous malformation + + Malformation syndrome + + + + + + + + 717619 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=717619 + Capillary-lymphatic-venous malformation + + Morphological anomaly + + + + + + + + 464318 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464318 + Verrucous hemangioma + + Disease + + + + + + + + + + 211277 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=211277 + Complex vascular malformation with associated anomalies + + Category + + + + + + 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 + + + + + + + + 109 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=109 + Bannayan-Riley-Ruvalcaba syndrome + + Clinical subtype + + + + + + + + 86914 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=86914 + Lymphedema-cerebral arteriovenous anomaly-primary pulmonary hypertension syndrome + + Malformation syndrome + + + + + + + + 744 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=744 + Proteus syndrome + + Malformation syndrome + + + + + + + + + + 211237 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=211237 + Rare vascular tumor + + Category + + + + + + 673466 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=673466 + Malignant vascular tumor + + Clinical group + + + + + + 157791 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=157791 + Epithelioid hemangioendothelioma + + Disease + + + + + + + + 263413 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263413 + Angiosarcoma + + Disease + + + + + + + + + + 673470 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=673470 + Benign vascular tumor + + Clinical group + + + + + + 714138 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=714138 + Circumscribed choroidal hemangioma + + Disease + + + + + + + + 1062 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1062 + Hereditary neurocutaneous malformation + + Disease + + + + + + + + 1063 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1063 + Tufted angioma + + Disease + + + + + + + + 71213 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71213 + Retinal capillary malformation + + Disease + + + + + + + + 210584 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210584 + Spindle cell hemangioma + + Disease + + + + + + + + 458775 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=458775 + Congenital hemangioma + + Clinical group + + + + + + 458785 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=458785 + Partially involuting congenital hemangioma + + Disease + + + + + + + + 141184 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141184 + Rapidly involuting congenital hemangioma + + Disease + + + + + + + + 141179 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=141179 + Non-involuting congenital hemangioma + + Disease + + + + + + + + + + 675359 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=675359 + Anastomosing haemangioma + + Disease + + + + + + + + 675597 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=675597 + Acquired elastotic haemangioma + + Disease + + + + + + + + 675362 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=675362 + Hobnail hemangioma + + Disease + + + + + + + + 675369 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=675369 + Microvenular haemangioma + + Disease + + + + + + + + 675396 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=675396 + Epithelioid hemangioma + + Disease + + + + + + + + 673543 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=673543 + Papillary hemangioma + + Disease + + + + + + + + 673574 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=673574 + Reactive angioendotheliomatosis + + Disease + + + + + + + + 673568 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=673568 + Eccrine angiomatous hamartoma + + Disease + + + + + + + + 673538 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=673538 + Littoral cell hemangioma of the spleen + + Disease + + + + + + + + 673525 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=673525 + Intravascular papillary endothelial hyperplasia + + Disease + + + + + + + + 210589 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210589 + Rare infantile hemangioma + + Clinical group + + + + + + 2123 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2123 + Multifocal infantile hemangioma with extracutenous involvement + + Disease + + + + + + + + 675380 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=675380 + Isolated segmental infantile hemangioma + + Disease + + + + + + + + 42775 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=42775 + PHACE syndrome + + Malformation syndrome + + + + + + + + 83628 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83628 + LUMBAR syndrome + + Malformation syndrome + + + + + + + + 137935 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137935 + Airway infantile hemangioma + + Disease + + + + + + + + + + + + 673473 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=673473 + Borderline vascular tumor + + Clinical group + + + + + + 2122 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2122 + Kaposiform hemangioendothelioma + + Disease + + + + + + + + 33276 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33276 + Kaposi sarcoma + + Disease + + + + + + + + 458758 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=458758 + Composite hemangioendothelioma + + Disease + + + + + + + + 458763 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=458763 + Retiform hemangioendothelioma + + Disease + + + + + + + + 458768 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=458768 + Papillary intralymphatic angioendothelioma + + Disease + + + + + + + + 673556 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=673556 + Pseudomyogenic hemangioendothelioma + + Disease + + + + + + + + + + + + 211243 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=211243 + Simple vascular malformation + + Category + + + + + + 694228 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=694228 + Congenital intrahepatic arterioportal fistula + + Malformation syndrome + + + + + + + + + + + + 52662 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52662 + Rare teratologic disease + + Category + + + + + + 232035 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=232035 + Infectious embryofetopathy + + Category + + + + + + 295 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=295 + Fetal parvovirus syndrome + + Malformation syndrome + + + + + + + + 290 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=290 + Congenital rubella syndrome + + Disease + + + + + + + + 858 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=858 + Congenital toxoplasmosis + + Disease + + + + + + + + 291 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=291 + Congenital varicella syndrome + + Disease + + + + + + + + 293 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293 + Congenital herpes simplex virus infection + + Disease + + + + + + + + 294 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294 + Fetal cytomegalovirus syndrome + + Disease + + + + + + + + 292 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=292 + Congenital enterovirus infection + + Disease + + + + + + + + 70596 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70596 + Congenital Epstein-Barr virus infection + + Disease + + + + + + + + 499009 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=499009 + Congenital syphilis + + Disease + + + + + + + + + + 251529 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251529 + Toxic or drug-related embryofetopathy + + Category + + + + + + 485358 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=485358 + Propylthiouracil embryofetopathy + + Malformation syndrome + + + + + + + + 1915 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1915 + Fetal alcohol syndrome + + Malformation syndrome + + + + + + + + 1908 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1908 + Aminopterin/methotrexate embryofetopathy + + Malformation syndrome + + + + + + + + 1909 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1909 + Indomethacin embryofetopathy + + Malformation syndrome + + + + + + + + 1910 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1910 + Fetal iodine syndrome + + Malformation syndrome + + + + + + + + 1911 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1911 + Cocaine embryofetopathy + + Malformation syndrome + + + + + + + + 1918 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1918 + Fetal minoxidil syndrome + + Malformation syndrome + + + + + + + + 1914 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1914 + Vitamin K antagonist embryofetopathy + + Malformation syndrome + + + + + + + + 1916 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1916 + Diethylstilbestrol syndrome + + Malformation syndrome + + + + + + + + 1917 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1917 + Fetal methylmercury syndrome + + Malformation syndrome + + + + + + + + 1920 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1920 + Toluene embryopathy + + Malformation syndrome + + + + + + + + 1923 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1923 + Methimazole embryofetopathy + + Malformation syndrome + + + + + + + + 2305 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2305 + Isotretinoin syndrome + + Malformation syndrome + + + + + + + + 3312 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3312 + Thalidomide embryopathy + + Malformation syndrome + + + + + + + + 40366 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=40366 + Acitretin/etretinate embryopathy + + Malformation syndrome + + + + + + + + 268249 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=268249 + Mycophenolate mofetil embryopathy + + Malformation syndrome + + + + + + + + 370068 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370068 + Fetal anticonvulsant syndrome + + Clinical group + + + + + + 1906 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1906 + Fetal valproate spectrum disorder + + Malformation syndrome + + + + + + + + 1912 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1912 + Fetal hydantoin syndrome + + Malformation syndrome + + + + + + + + 1913 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1913 + Fetal trimethadione syndrome + + Malformation syndrome + + + + + + + + 1919 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1919 + Phenobarbital embryopathy + + Malformation syndrome + + + + + + + + 370076 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370076 + Fetal carbamazepine syndrome + + Malformation syndrome + + + + + + + + + + + + 251535 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=251535 + Maternal disease-related embryofetopathy + + Category + + + + + + 1926 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1926 + Diabetic embryopathy + + Malformation syndrome + + + + + + + + 2209 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2209 + Maternal phenylketonuria syndrome + + Malformation syndrome + + + + + + + + 2216 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2216 + Maternal hyperthermia-induced birth defects + + Malformation syndrome + + + + + + + + + + + + 83001 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=83001 + Urogenital tract malformation + + Category + + + + + + 165704 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=165704 + Non-syndromic urogenital tract malformation + + Category + + + + + + 182117 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=182117 + Non-syndromic urogenital tract malformation of female + + Category + + + + + + 180065 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180065 + Non-syndromic uterovaginal malformation + + Category + + + + + + 1916 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1916 + Diethylstilbestrol syndrome + + Malformation syndrome + + + + + + + + 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 + + + + + + + + + + + + 180122 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180122 + Septate uterus + + Clinical group + + + + + + 180126 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180126 + Complete septate uterus + + Morphological anomaly + + + + + + + + 180129 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180129 + Partial septate uterus + + Morphological anomaly + + + + + + + + + + 180134 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180134 + Bicornuate uterus + + Clinical group + + + + + + 180086 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180086 + Didelphys uterus + + Morphological anomaly + + + + + + 180106 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180106 + Bicervical bicornuate uterus and blind hemivagina + + Clinical subtype + + + + + + + + 180111 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180111 + Bicervical bicornuate uterus with patent cervix and vagina + + Clinical subtype + + + + + + + + + + 180114 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180114 + Unicervical bicornuate uterus + + Morphological anomaly + + + + + + + + + + 180139 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180139 + Uterine hypoplasia + + Morphological anomaly + + + + + + + + 180142 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180142 + Absence of uterine body + + Morphological anomaly + + + + + + + + 180145 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180145 + Uterine cervical aplasia and agenesis + + Morphological anomaly + + + + + + + + + + 180151 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180151 + Rare vaginal malformation + + Category + + + + + + 65681 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65681 + Vaginal atresia + + Morphological anomaly + + + + + + + + 96269 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=96269 + Isolated partial vaginal agenesis + + Morphological anomaly + + + + + + + + 180154 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180154 + Septate vagina + + Morphological anomaly + + + + + + 180157 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180157 + Longitudinal vaginal septum + + Clinical subtype + + + + + + + + 180160 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=180160 + Transverse vaginal septum + + Clinical subtype + + + + + + + + + + + + 603515 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=603515 + Isolated female hypospadias + + Morphological anomaly + + + + + + + + 647794 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=647794 + Isolated persistent urogenital sinus + + Morphological anomaly + + + + + + + + + + 182121 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=182121 + Non-syndromic urogenital tract malformation of male + + Category + + + + + + 48 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=48 + Congenital bilateral absence of vas deferens + + Morphological anomaly + + + + + + + + 2842 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2842 + Penoscrotal transposition + + Morphological anomaly + + + + + + + + 49 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=49 + Penile agenesis + + Morphological anomaly + + + + + + + + 227 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=227 + Diphallia + + Morphological anomaly + + + + + + + + 95706 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95706 + Non-syndromic posterior hypospadias + + Morphological anomaly + + + + + + + + 95707 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95707 + Idiopathic isolated micropenis + + Morphological anomaly + + + + + + + + 696897 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=696897 + Congenital megaprepuce + + Morphological anomaly + + + + + + + + 495879 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=495879 + Congenital agenesis of the scrotum + + Morphological anomaly + + + + + + + + + + 182124 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=182124 + Non-syndromic urogenital tract malformation of male and female + + Category + + + + + + 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 + + + + + + + + + + 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 + + + + + + + + + + 289365 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289365 + Familial vesicoureteral reflux + + Malformation syndrome + + + + + + + + 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 + + + + + + + + + + 435743 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=435743 + Congenital urachal anomaly + + Category + + + + + + 488 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=488 + Urachal cyst + + Morphological anomaly + + + + + + + + 431341 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=431341 + Patent urachus + + Morphological anomaly + + + + + + + + 431344 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=431344 + Urachal sinus + + Morphological anomaly + + + + + + + + 431347 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=431347 + Urachal diverticulum + + Morphological anomaly + + + + + + + + + + + + + + 165707 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=165707 + Syndromic urogenital tract malformation + + 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 + + + + + + + + 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 + + + + + + + + + + + + + + 90642 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90642 + Rare 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 + + + + + + + + 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 + + + + + + + + 456298 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=456298 + 1p35.2 microdeletion 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 + + + + + + + + 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 + + + + + + + + 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 + MYH14-related 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 + + + + + + + + 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 + + + + + + + + 90650 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90650 + Otopalatodigital syndrome type 1 + + 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 + + + + + + + + 2838 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2838 + Renal caliceal diverticuli-deafness 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 + + + + + + + + + + 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 + + + + + + + + 69739 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69739 + Athabaskan brainstem dysgenesis syndrome + + Disease + + + + + + + + 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 + + + + + + + + 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 + + + + + + + + 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 + + + + + + + + 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 + + + + + + + + + + 168569 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168569 + H syndrome + + Malformation syndrome + + + + + + + + 324321 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324321 + Sinoatrial node dysfunction and deafness + + Disease + + + + + + + + 363396 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363396 + High myopia-sensorineural deafness syndrome + + Disease + + + + + + + + 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 + + + + + + + + + + 90771 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90771 + Difference of sex development + + Category + + + + + + 2982 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2982 + 46,XX difference of sex development + + Category + + + + + + 98078 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98078 + 46,XX difference of sex development induced by androgens excess + + 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 + + + + + + + + + + 91144 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91144 + 46,XX difference of sex development induced by maternal-derived androgen + + Category + + + + + + 325093 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325093 + 46,XX difference of sex development induced by endogenous maternal-derived androgen + + Clinical group + + + + + + + + 325099 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325099 + 46,XX difference of sex development induced by exogenous maternal-derived androgen + + Clinical group + + + + + + + + + + 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 + + + + + + + + + + + + 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 + + + + + + + + + + 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 + + + + + + + + + + + + 98085 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98085 + 46,XY difference of sex development + + Category + + + + + + 49 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=49 + Penile agenesis + + Morphological anomaly + + + + + + + + 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 + + + + + + + + + + 325351 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325351 + 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 + + + + + + + + + + 2856 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2856 + Persistent Müllerian duct syndrome + + Malformation syndrome + + + + + + + + 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 + + + + + + + + + + + + 325537 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=325537 + 46,XY difference of sex development induced by maternal exposure to endocrine disruptors + + 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 + + + + + + + + + + + + 647916 + http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=647916 + Conjoined twins + + Malformation syndrome + + + + + + + + + + +