| Metadata | |
|---|---|
| ID | DOID:0111236 |
| Name | congenital muscular dystrophy-dystroglycanopathy type A3 |
| Definition | A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMGNT1 on 1p34.1. https://www.ncbi.nlm.nih.gov/pubmed/11709191 |
| Xrefs | |
| Synonyms |
congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A3 [EXACT] MDDGA3 [EXACT] Walker-Warburg syndrome or muscle-eye-brain disease, POMGNT1-related [EXACT] |
| Parent Relationships |
is_a congenital muscular dystrophy-dystroglycanopathy type A |