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All: 45 
OMIM dbSNP: 2 
OMIM UniSTS: 10 
Items 1 - 20 of 45
 
 of 3
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1: #267750 Links
KNOBLOCH SYNDROME; KNO
Gene map locus 21q22.3
2: 223340 Links
DK PHOCOMELIA SYNDROME
3: 607132 Links
LARYNGEAL ATRESIA, ENCEPHALOCELE, AND LIMB DEFORMITIES
4: #249000 GeneTests, Links
MECKEL SYNDROME, TYPE 1; MKS1
Gene map locus 17q23
5: #236670 GeneTests, Links
WALKER-WARBURG SYNDROME
MUSCULAR DYSTROPHY, CONGENITAL, PLUS MENTAL RETARDATION, INCLUDED
Gene map locus 19q13.3, 14q24.3, 9q34.1, 9q31
6: %608454 Links
KNOBLOCH SYNDROME, TYPE II
7: 218670 Links
CRANIOTELENCEPHALIC DYSPLASIA
8: *609884 Links
TRANSMEMBRANE PROTEIN 67; TMEM67
Gene map locus 8q21.13-q22.1
9: 601357 Links
BRACHIAL AMELIA, FOREBRAIN DEFECTS, AND FACIAL CLEFTS
10: *300382 GeneTests, Links
ARISTALESS-RELATED HOMEOBOX, X-LINKED; ARX
Gene map locus Xp22.13
11: #253800 GeneTests, Links
FUKUYAMA CONGENITAL MUSCULAR DYSTROPHY; FCMD
Gene map locus 9q31
12: 241800 Links
HYPOTHALAMIC HAMARTOMAS
CONGENITAL HYPOTHALAMIC HAMARTOMA SYNDROME, INCLUDED; CHHS, INCLUDED
13: %229400 Links
FRONTOFACIONASAL DYSOSTOSIS
14: %608091 GeneTests, Links
JOUBERT SYNDROME 2; JBTS2
Gene map locus 11p12-q13.3
15: 607597 Links
MICROPHTHALMIA WITH CYST, BILATERAL FACIAL CLEFTS, AND LIMB ANOMALIES
16: %605627 Links
CEREBROOCULONASAL SYNDROME
17: #268300 GeneTests, Links
ROBERTS SYNDROME; RBS
Gene map locus 8p21.1
18: 264480 Links
PSEUDOTRISOMY 13 SYNDROME
19: 224400 GeneTests, Links
DYSSEGMENTAL DWARFISM
ROLLAND-DESBUQUOIS SYNDROME, INCLUDED
20: #219000 GeneTests, Links
FRASER SYNDROME
CRYPTOPHTHALMOS-SYNDACTYLY SYNDROME, INCLUDED
Gene map locus 13q13.3, 4q21
Items 1 - 20 of 45
 
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