|OBO ID: DOID:0080568|
|Term Name:||congenital disorder of glycosylation Iq||Search Ontology:|
|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|
|Ontology:||Human Disease (DOID:0080568)|
|is a type of:||
OTHER congenital disorder of glycosylation Iq PAGES
ZEBRAFISH MODELS No data available
PHENOTYPE No data available
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