SRD5A3-CDG (CDG-Iq)
Alternate names[edit | edit source]
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iq; CDG1Q; COLOBOMA, OCULAR, WITH ICHTHYOSIS, BRAIN MALFORMATIONS, AND ENDOCRINE ABNORMALITIES; CDGIq; Congenital disorder of glycosylation due to steroid 5alpha-reductase type 3 deficiency; CDG-Iq; Congenital disorder of glycosylation type 1q; Congenital disorder of glycosylation type Iq; SRD5A3-CDG; CDG syndrome type Iq
Definition[edit | edit source]
SRD5A3-CDG is a rare, non X-linked congenital disorder of glycosylation 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.
NIH genetic and rare disease info[edit source]
SRD5A3-CDG (CDG-Iq) is a rare disease.
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