| Metadata | |
|---|---|
| ID | DOID:0111230 |
| Name | congenital muscular dystrophy-dystroglycanopathy type A11 |
| Definition | A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in B3GALNT2 on 1q42.3. https://www.ncbi.nlm.nih.gov/pubmed/23453667 |
| Xrefs | |
| Synonyms |
congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A11 [EXACT] MDDGA11 [EXACT] Walker-Warburg syndrome or muscle-eye-brain disease B3GALNT2-related [EXACT] |
| Parent Relationships |
is_a congenital muscular dystrophy-dystroglycanopathy type A |