| Metadata | |
|---|---|
| ID | DOID:0111231 |
| Name | congenital muscular dystrophy-dystroglycanopathy type A8 |
| Definition | A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMGNT2 on 3p22.1. https://www.ncbi.nlm.nih.gov/pubmed/22958903 |
| Xrefs | |
| Synonyms |
congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A8 [EXACT] MDDGA8 [EXACT] Walker-Warburg syndrome or muscle-eye-brain disease GTDC2-related [EXACT] |
| Parent Relationships |
is_a congenital muscular dystrophy-dystroglycanopathy type A |