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Clinical Disorder Search

Terms: night blindness, jaundice, cataracts, etc.
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Disorder Name Genes Alternate Names OMIM Inheritance
Jackson-Weiss Syndrome FGFR2 JWS, craniosynostosis with midfacial hypoplasia and foot abnormalities 123150 autosomal dominant
Jalili Syndrome CNNM4 cone-rod dystrophy and amelogenesis imperfecta 217080 autosomal recessive
Joint Laxity, Short Stature, and Myopia GZF1 JLSM 617662 autosomal recessive
Joubert Syndrome and Related Disorders multiple JSRD, JBTS, Joubert-Boltshauser syndrome, cerebelloparenchymal disorder IV, cerebellooculorenal syndrome 1 213300 autosomal recessive