Term Name: congenital muscular dystrophy-dystroglycanopathy type A2
Synonyms: congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A2, MDDGA2, Walker-Warburg syndrome or muscle-eye-brain disease, POMT2-related
Definition: A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMT2 on 14q24.3.
Ontology: Human Disease [DOID:0111240]   ( DOID:0111240 )

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