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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
congenital disorder of glycosylation Iq
Summary
- Synonym
-
- 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.
- Super Class
- autosomal recessive disease congenital disorder of glycosylation type I
External Links
- Disease Ontology
- DOID:0080568
- Mondo Disease Ontology
- ORDO
- OMIM
- GARD
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0003577 | Congenital onset |
| HP:0000973 | Cutis laxa |
| HP:0001252 | Hypotonia |
| HP:0002015 | Dysphagia |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0001257 | Spasticity |
| HP:0000316 | Hypertelorism |
| HP:0002126 | Polymicrogyria |
| HP:0000958 | Dry skin |
| HP:0003593 | Infantile onset |
