Term Name: congenital muscular dystrophy-dystroglycanopathy type A14
Synonyms: congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A14, MDDGA14, Walker-Warburg syndrome or muscle-eye-brain disease GMPPB-related
Definition: A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in in GMPPB on 3p21.31.
Ontology: Human Disease [DOID:0111233]   ( DOID:0111233 )

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