Term Name: congenital muscular dystrophy-dystroglycanopathy type A1
Synonyms: congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A1, MDDGA1, Walker-Warburg syndrome or muscle-eye-brain disease, POMT1-related
Definition: A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMT1 on 9q34.13.
Ontology: Human Disease [DOID:0111237]   ( DOID:0111237 )

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