congenital disorder of glycosylation Iq (DOID:0080568)
Alliance: disease page
Synonyms: congenital disorder of glycosylation 1q
Alt IDs: OMIM:612379, ORDO:324737
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.