congenital muscular dystrophy-dystroglycanopathy type A8 (DOID:0111231)
Alliance: disease page
Synonyms: congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A8; MDDGA8; Walker-Warburg syndrome or muscle-eye-brain disease GTDC2-related
Alt IDs: OMIM:614830
Definition: A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMGNT2 on 3p22.1.