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| Term | X-linked congenital myopathy with fiber-type disproportion | ID (Ontology) | DOID:0111226 (Human Disease) |
| Definition | A congenital fiber-type disproportion characterized by bilateral ptosis, facial weakness, impaired suckling, generalized hypotonia, and respiratory insufficiency that has_material_basis_in mutation in the chromosome region Xq13.1-q22.1. | ||
| Also Known As | "CFTDX" | ||
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autosomal dominant disease__ physical disorder___________| congenital myopathy_________| congenital myopathy 4A |__X-linked congenital myopathy with fiber-type disproportion |
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| Is a | congenital myopathy 4A | ||
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| MIM:300580 | |||