Term Name: X-linked congenital myopathy with fiber-type disproportion
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 )

Relationships
is a type of: congenital myopathy 4A