Disorders: J
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Disorders | Alternate Names | Genes | Inheritance Pattern |
---|---|---|---|
Jackson-Weiss Syndrome | craniosynostosis with midfacial hypoplasia and foot abnormalities, JWS | FGFR2 | autosomal dominant |
Jalili Syndrome | cone-rod dystrophy and amelogenesis imperfecta | CNNM4 | autosomal recessive |
Joint Laxity, Short Stature, and Myopia | JLSM | GZF1 | autosomal recessive |
Joubert Syndrome and Related Disorders | cerebellooculorenal syndrome 1, cerebelloparenchymal disorder IV, JBTS, Joubert-Boltshauser syndrome, JSRD | multiple | autosomal recessive |