Term Name: | congenital muscular dystrophy-dystroglycanopathy type A1 |
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Synonyms: | congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A1, MDDGA1, Walker-Warburg syndrome or muscle-eye-brain disease, POMT1-related |
Definition: | A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMT1 on 9q34.13. |
Ontology: | Human Disease [DOID:0111237] ( DOID:0111237 ) |