congenital disorder of glycosylation Iq

Term ID

DOID:0080568

Synonyms

• congenital disorder of glycosylation 1q

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

References

• GARD:12397
• MIM:612379
• ORDO:324737

Ontology

Human Disease   ( DOID:0080568 )