| Metadata | |
|---|---|
| ID | DOID:0111242 |
| Name | congenital muscular dystrophy-dystroglycanopathy type A6 |
| Definition | A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in LARGE on 22q12.3. https://www.ncbi.nlm.nih.gov/pubmed/17436019 |
| Xrefs | |
| Synonyms |
congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A6 [EXACT] MDDGA6 [EXACT] Walker-Warburg syndrome or muscle-eye-brain disease, LARGE-related [EXACT] |
| Parent Relationships |
is_a congenital muscular dystrophy-dystroglycanopathy type A |