| Metadata | |
|---|---|
| ID | DOID:0111235 |
| Name | congenital muscular dystrophy-dystroglycanopathy type A12 |
| Definition | A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMK on 8p11.21. https://www.ncbi.nlm.nih.gov/pubmed/23519211 |
| Xrefs | |
| Synonyms |
congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A12 [EXACT] MDDGA12 [EXACT] Walker-Warburg syndrome or muscle-eye-brain disease POMK-related [EXACT] |
| Parent Relationships |
is_a congenital muscular dystrophy-dystroglycanopathy type A |