| Metadata | |
|---|---|
| ID | DOID:0111238 |
| Name | congenital muscular dystrophy-dystroglycanopathy type A13 |
| Definition | A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in B4GAT1 on 11q13.2. https://www.ncbi.nlm.nih.gov/pubmed/23359570 |
| Xrefs | |
| Synonyms |
congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A13 [EXACT] MDDGA13 [EXACT] Walker-Warburg syndrome or muscle-eye-brain disease, B3GNT1-related [EXACT] Walker-Warburg syndrome or muscle-eye-brain disease, B4GNT1-related [EXACT] |
| Parent Relationships |
is_a congenital muscular dystrophy-dystroglycanopathy type A |