Term Name: | congenital muscular dystrophy-dystroglycanopathy type A2 |
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Synonyms: | congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A2, MDDGA2, Walker-Warburg syndrome or muscle-eye-brain disease, POMT2-related |
Definition: | A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMT2 on 14q24.3. |
Ontology: | Human Disease [DOID:0111240] ( DOID:0111240 ) |