SRD5A3-congenital disorder of glycosylation

A rare, non X-linked congenital disorder of gyclosylation due to steroid 5 alpha reductase type 3 deficiency characterized by a highly variable phenotype typically presenting 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.

Also known as: CDG syndrome type Iq, CDG-Iq, CDG1Q, SRD5A3-CDG, SRD5A3-congenital disorder of glycosylation, congenital disorder of glycosylation type 1q, congenital disorder of glycosylation type Iq, CDG Iq

0 clinical trials for this condition and its sub-types, 0 tagged with SRD5A3-congenital disorder of glycosylation itself.