/SRD5A3-congenital disorder of glycosylation

SRD5A3-congenital disorder of glycosylation

Rare Disease

MONDO:0012885

Also Known As

CDG syndrome type IqCDG-IqCDG1QSRD5A3-CDGSRD5A3-congenital disorder of glycosylationcongenital disorder of glycosylation type 1qcongenital disorder of glycosylation type IqCDG IqCDGIqSRD5A3-CDG (CDG-Iq)coloboma, ocular, with ichthyosis, brain malformations, and endocrine abnormalitiescongenital disorder of glycosylation due to steroid 5alpha-reductase type 3 deficiencycongenital disorder of glycosylation, type Iq

Definition

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.