Term Name:	congenital muscular dystrophy-dystroglycanopathy type A6
Synonyms:	congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A6, MDDGA6, Walker-Warburg syndrome or muscle-eye-brain disease, LARGE-related
Definition:	A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in LARGE on 22q12.3.
Ontology:	Human Disease [DOID:0111242]   ( DOID:0111242 )