congenital muscular dystrophy-dystroglycanopathy type A6 (DOID:0111242)
Alliance: disease page
Synonyms: congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A6; MDDGA6; Walker-Warburg syndrome or muscle-eye-brain disease, LARGE-related
Alt IDs: OMIM:613154
Definition: A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in LARGE on 22q12.3.