nemaline myopathy 9

info · Genetic

A nemaline myopathy characterized by onset in early infancy of muscle weakness with variable severity that has_material_basis_in homozygous or compound heterozygous mutation in the KLHL41 gene on chromosome 2q31.

Signs and symptoms

Motor delay
Muscle weakness
Breech presentation
Nemaline bodies
Polyhydramnios
Cleft palate
Scoliosis
Ventricular septal defect
Arthrogryposis multiplex congenita
High palate

Also known as: NEM9