Conditions / Musculoskeletal
congenital hypomyelinating neuropathy 2
info · Musculoskeletal
A congenital hypomyelinating neuropathy that has_material_basis_in heterozygous mutation in the MPZ gene on chromosome 1q23.
Signs and symptoms
- Decreased motor nerve conduction velocity
- Distal amyotrophy
- Hypotonia
- Motor delay
- Facial diplegia
- Muscle weakness
- Pes planus
- Hyporeflexia
- Scoliosis
- Delayed ability to walk
Also known as: CHN2