Term Name: congenital muscular dystrophy-dystroglycanopathy type A12
Synonyms: congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A12, MDDGA12, Walker-Warburg syndrome or muscle-eye-brain disease POMK-related
Definition: A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMK on 8p11.21.
Ontology: Human Disease [DOID:0111235]   ( DOID:0111235 )

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