Term Name: | congenital muscular dystrophy-dystroglycanopathy A14 |
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Synonyms: | congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A14, MDDGA14, Walker-Warburg syndrome or muscle-eye-brain disease GMPPB-related |
Definition: | A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in in GMPPB on 3p21.31. |
Ontology: | Human Disease [DOID:0111233] ( DOID:0111233 ) |