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congenital muscular dystrophy-dystroglycanopathy type A10
Summary
- Synonym
-
- MDDGA10
- Walker-Warburg syndrome or muscle-eye-brain disease, TMEM5-related
- congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A10
- Definition
- A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in RXYLT1 on 12q14.2.
- Super Class
- congenital muscular dystrophy-dystroglycanopathy type A
External Links
- Disease Ontology
- DOID:0111239
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9Y2B1 | Ribitol-5-phosphate xylosyltransferase 1 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000482 | Microcornea |
| HP:0000501 | Glaucoma |
| HP:0000518 | Cataract |
| HP:0000528 | Anophthalmia |
| HP:0000541 | Retinal detachment |
| HP:0000556 | Retinal dystrophy |
| HP:0000568 | Microphthalmia |
| HP:0000587 | Abnormal optic nerve morphology |
| HP:0000612 | Iris coloboma |
| HP:0000648 | Optic atrophy |
