Term Name: congenital muscular dystrophy-dystroglycanopathy type A5
Synonyms: congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5, MDDGA5, Walker-Warburg syndrome or muscle-eye-brain disease, FKRP-related
Definition: A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in FKRP on 19q13.32.
Ontology: Human Disease [DOID:0111241]   ( DOID:0111241 )

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