OBO ID: DOID:0080568
Term Name: congenital disorder of glycosylation Iq Search Ontology:
  • 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
Ontology: Human Disease   (DOID:0080568)
OTHER congenital disorder of glycosylation Iq PAGES
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
SRD5A3 Congenital disorder of glycosylation, type Iq 612379
ZEBRAFISH MODELS No data available
PHENOTYPE No data available