Conditions / Genetic
congenital myopathy 9A
info · Genetic
A congenital myopathy that is characterized by neonatal hypotonia, poor feeding, fractures of the long bones, and respiratory insufficiency and that has_material_basis_in homozygous mutation in the FXR1 gene on chromosome 3q28.
Signs and symptoms
- Obstructive sleep apnea
- Motor delay
- Neonatal hypotonia
- EMG: myopathic abnormalities
- Short stature
- Cryptorchidism
- Obesity
- Oligohydramnios
- Areflexia
- Tongue fasciculations