Visualize Submit Comment

Metadata
ID	DOID:0080568
Name	congenital disorder of glycosylation Iq
Definition	A congenital disorder of glycosylation I that is 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 and has_material_basis_in homozygous or compound heterozygous mutation in the SRD5A3 gene on chromosome 4q12. https://www.ncbi.nlm.nih.gov/pubmed/20637498
Xrefs	GARD:12397 MIM:612379 ORDO:324737
Subsets	DO_rare_slim
Synonyms	congenital disorder of glycosylation 1q [EXACT]
Parent Relationships	is_a autosomal recessive disease is_a congenital disorder of glycosylation type I