Term Name: | congenital muscular dystrophy-dystroglycanopathy type A8 |
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Synonyms: | congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A8, MDDGA8, Walker-Warburg syndrome or muscle-eye-brain disease GTDC2-related |
Definition: | A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMGNT2 on 3p22.1. |
Ontology: | Human Disease [DOID:0111231] ( DOID:0111231 ) |