Term Name: | congenital muscular dystrophy-dystroglycanopathy type A11 |
---|---|
Synonyms: | congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A11, MDDGA11, Walker-Warburg syndrome or muscle-eye-brain disease B3GALNT2-related |
Definition: | A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in B3GALNT2 on 1q42.3. |
Ontology: | Human Disease [DOID:0111230] ( DOID:0111230 ) |