SRD5A3-CDG

A rare, non X-linked congenital disorder of glycosylation due to steroid 5 alpha reductase type 3 deficiency with a highly variable phenotype. The disease typically presents with severe visual impairment, variable ocular anomalies (such as optic nerve hypoplasia/atrophy, iris and optic nerve coloboma, congenital cataract, glaucoma), intellectual disability, cerebellar abnormalities, nystagmus, hypotonia, ataxia, and/or ichthyosiform skin lesions. Other reported manifestations include retinitis pigmentosa, kyphosis, congenital heart defects, hypertrichosis and abnormal coagulation. Caused by homozygous or compound heterozygous mutation in the SRD5A3 gene on chromosome 4q12.

SNOMEDCT_US