Genetics

SOST-related sclerosing bone dysplasia

CLPB gene

IRF5 gene

Leber congenital amaurosis

SATB2-associated syndrome

BMPR1A gene

Congenital fibrosis of the extraocular muscles

Spondyloenchondrodysplasia with immune dysregulation

ARFGEF2 gene

HPS1 gene

Legg-Calvé-Perthes disease

CHN1 gene