X-linked congenital myopathy with fiber-type disproportion

info · Genetic

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.

Signs and symptoms

Decreased body weight
Polyhydramnios
Generalized neonatal hypotonia
Facial palsy
Short stature
Respiratory distress
Myopathy
Poor suck
Frontalis muscle weakness
Ptosis

Also known as: CFTDX