has material basis in germline mutation in SRD5A3 skin disorder congenital disorder of glycosylation type I SRD5A3-congenital disorder of glycosylation https://github.com/monarch-initiative/mondo/issues/5682 https://www.malacards.org/card/congenital_disorder_of_glycosylation_type_iq CDGIq MEDGEN:1392124 MONDO:0012885 UMLS:C4317224 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. CDG syndrome type Iq CDG1Q GARD:0012397 congenital disorder of glycosylation, type Iq CDG-Iq SRD5A3-congenital disorder of glycosylation OMIM:612379 congenital disorder of glycosylation due to steroid 5alpha-reductase type 3 deficiency SRD5A3-CDG congenital disorder of glycosylation type Iq Orphanet:324737 SRD5A3-CDG (CDG-Iq) congenital disorder of glycosylation type 1q DOID:0080568 SCTID:733601006 disorder of multiple glycosylation obsolete developmental defect of the eye