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 )

Relationships
is a type of: congenital muscular dystrophy-dystroglycanopathy type A