SRD5A3-congenital disorder of glycosylation (MONDO_0012885) is 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, congenital disorder of glycosylation type 1q, congenital disorder of glycosylation type Iq.