congenital muscular dystrophy-dystroglycanopathy type A13 (DOID:0111238)
Alliance: disease page
Synonyms: congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A13; MDDGA13; Walker-Warburg syndrome or muscle-eye-brain disease, B3GNT1-related; Walker-Warburg syndrome or muscle-eye-brain disease, B4GNT1-related
Alt IDs: OMIM:615287
Definition: A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in B4GAT1 on 11q13.2.