Term Name: congenital muscular dystrophy-dystroglycanopathy type A7
Synonyms: congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A7, MDDGA7, Walker-Warburg syndrome or muscle-eye-brain disease ISPD-related
Definition: A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in ISPD on 7p21.2-p21.1.
Ontology: Human Disease [DOID:0111234]   ( DOID:0111234 )

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