Term Name: congenital muscular dystrophy-dystroglycanopathy type A11
Synonyms: congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A11, MDDGA11, Walker-Warburg syndrome or muscle-eye-brain disease B3GALNT2-related
Definition: A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in B3GALNT2 on 1q42.3.
Ontology: Human Disease [DOID:0111230]   ( DOID:0111230 )

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