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congenital muscular dystrophy-dystroglycanopathy type A1
Summary
- Synonym
-
- MDDGA1
- Walker-Warburg syndrome or muscle-eye-brain disease, POMT1-related
- congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A1
- Definition
- A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMT1 on 9q34.13.
- Super Class
- congenital muscular dystrophy-dystroglycanopathy type A
External Links
- Disease Ontology
- DOID:0111237
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9Y6A1 | Protein O-mannosyl-transferase 1 |
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9VTK2 | Protein O-mannosyltransferase 1 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000413 | Atresia of the external auditory canal |
| HP:0000485 | Megalocornea |
| HP:0000557 | Buphthalmos |
| HP:0000589 | Coloboma |
| HP:0000609 | Optic nerve hypoplasia |
| HP:0000618 | Blindness |
| HP:0000659 | Peters anomaly |
| HP:0001105 | Retinal atrophy |
| HP:0001262 | Excessive daytime somnolence |
| HP:0001319 | Neonatal hypotonia |
