| Metadata | |
|---|---|
| ID | DOID:0111237 |
| Name | congenital muscular dystrophy-dystroglycanopathy 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. https://www.ncbi.nlm.nih.gov/pubmed/12369018 |
| Xrefs | |
| Synonyms |
congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A1 [EXACT] MDDGA1 [EXACT] Walker-Warburg syndrome or muscle-eye-brain disease, POMT1-related [EXACT] |
| Parent Relationships |
is_a congenital muscular dystrophy-dystroglycanopathy type A |