Term Name: | congenital muscular dystrophy-dystroglycanopathy type A5 |
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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 ) |