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| Term | muscular dystrophy-dystroglycanopathy type B4 | ID (Ontology) | DOID:0112379 (Human Disease) |
| Definition | A muscular dystrophy-dystroglycanopathy type B characterized by muscular dystropy resulting from impaired glycosylation of dystroglycan in the absence of intellectual impairment that has_material_basis_in homozygous or compound heterozygous mutation in the FKTN gene on chromosome 9q31.2. | ||
| Also Known As | "congenital muscular dystrophy FKTN-related" ; "MDDGB4" | ||
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autosomal genetic disease |__autosomal recessive disease___________________ muscular dystrophy-dystroglycanopathy | |__muscular dystrophy-dystroglycanopathy type B__| muscular dystrophy-dystroglycanopathy type B4 |
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| Is a |
autosomal recessive disease muscular dystrophy-dystroglycanopathy type B |
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| MIM:613152 | |||