congenital muscular dystrophy-dystroglycanopathy type A3 (DOID:0111236)
Alliance: disease page
Synonyms: congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A3; MDDGA3; Walker-Warburg syndrome or muscle-eye-brain disease, POMGNT1-related
Alt IDs: OMIM:253280
Definition: A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMGNT1 on 1p34.1.