Term Name: congenital muscular dystrophy-dystroglycanopathy type A3
Synonyms: congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A3, MDDGA3, Walker-Warburg syndrome or muscle-eye-brain disease, POMGNT1-related
Definition: A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMGNT1 on 1p34.1.
Ontology: Human Disease [DOID:0111236]   ( DOID:0111236 )

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