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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:0000589 | Coloboma |
| HP:0001935 | Microcytic anemia |
| HP:0005585 | Spotty hyperpigmentation |
| HP:0001249 | Intellectual disability |
| HP:0001000 | Abnormality of skin pigmentation |
| HP:0000369 | Low-set ears |
| HP:0000962 | Hyperkeratosis |
| HP:0000248 | Brachycephaly |
| HP:0001320 | Cerebellar vermis hypoplasia |
| HP:0000568 | Microphthalmia |
