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| Term | muscular dystrophy-dystroglycanopathy type C8 | ID (Ontology) | DOID:0112382 (Human Disease) |
| Definition | A muscular dystrophy-dystroglycanopathy characterized by onset in childhood of a variable phrenotype that ranges from mild intellectual disability and gait abnormalities to asymptomatic that has_material_basis_in homozygous or compound heterozygous mutation in the POMGNT2 gene on chromosome 3p22.1. | ||
| Also Known As | "autosomal recessive limb-girdle muscular dystrophy 24" ; "LGMDR24" ; "MDDGC2" (for all, see Synonyms field below) | ||
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| DO.org | |||
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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congenital muscular dystrophy |__muscular dystrophy-dystroglycanopathy__ autosomal genetic disease | |__autosomal recessive disease____________| muscular dystrophy-dystroglycanopathy type C8 |
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| Is a |
autosomal recessive disease muscular dystrophy-dystroglycanopathy |
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| MIM:618135 | |||