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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
- Mondo Disease Ontology
- OMIM
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9Y2B1 | Ribitol-5-phosphate xylosyltransferase 1 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0003202 | Skeletal muscle atrophy |
| HP:0003560 | Muscular dystrophy |
| HP:0007731 | Chorioretinal dysplasia |
| HP:0007957 | Corneal opacity |
| HP:0007973 | Retinal dysplasia |
| HP:0008736 | Hypoplasia of penis |
| HP:0010508 | Metatarsus valgus |
| HP:0012400 | Abnormal circulating aldolase concentration |
| HP:0007033 | Cerebellar dysplasia |
| HP:0000133 | Gonadal dysgenesis |
