Term Name: | X-linked congenital myopathy with fiber-type disproportion |
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Synonyms: | CFTDX |
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. |
Ontology: | Human Disease [DOID:0111226] ( DOID:0111226 ) |