X-linked congenital myopathy with fiber-type disproportion

Term ID

DOID:0111226

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. https://www.ncbi.nlm.nih.gov/pubmed/16173074

References

• MIM:300580

Ontology

Human Disease   ( DOID:0111226 )