Term Name: congenital muscular dystrophy-dystroglycanopathy type A8
Synonyms: congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A8, MDDGA8, Walker-Warburg syndrome or muscle-eye-brain disease GTDC2-related
Definition: A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMGNT2 on 3p22.1.
Ontology: Human Disease [DOID:0111231]   ( DOID:0111231 )

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