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.
MONDO:0005093
skin disorder
excluded_subClassOf
MONDO:0020145
obsolete developmental defect of the eye (obsolete MONDO:0020145)
excluded_subClassOf
MONDO:0005500
congenital disorder of glycosylation type I
is_a
MONDO:0017749
disorder of multiple glycosylation
is_a
CDG syndrome type Iq
exact
CDG-Iq
exact
CDG1Q
exact
CDGIq
related
SRD5A3-CDG
exact
SRD5A3-CDG (CDG-Iq)
related
SRD5A3-congenital disorder of glycosylation
exact
congenital disorder of glycosylation due to steroid 5alpha-reductase type 3 deficiency
related
congenital disorder of glycosylation type 1q
exact
congenital disorder of glycosylation type Iq
exact
congenital disorder of glycosylation, type Iq
related
SPAC7D4.09c