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MIRAGE
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
- GARD
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000824 | Decreased response to growth hormone stimulation test |
| HP:0001935 | Microcytic anemia |
| HP:0000998 | Hypertrichosis |
| HP:0001251 | Ataxia |
| HP:0002334 | Abnormal cerebellar vermis morphology |
| HP:0000518 | Cataract |
| HP:0001272 | Cerebellar atrophy |
| HP:0007766 | Optic disc hypoplasia |
| HP:0008947 | Infantile muscular hypotonia |
| HP:0000982 | Palmoplantar keratoderma |
