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| Term | congenital muscular dystrophy-dystroglycanopathy type A8 | ID (Ontology) | DOID:0111231 (Human Disease) |
| Definition | A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMGNT2 on 3p22.1. | ||
| Also Known As | "congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A8" ; "MDDGA8" ; "Walker-Warburg syndrome or muscle-eye-brain disease GTDC2-related" | ||
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| DO.org | |||
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autosomal recessive disease____________ muscular dystrophy-dystroglycanopathy__| congenital muscular dystrophy-dystroglycanopathy type A |__congenital muscular dystrophy-dystroglycanopathy type A8 |
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| Is a | congenital muscular dystrophy-dystroglycanopathy type A | ||
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| MIM:614830 | |||