Conditions / Genetic
autosomal recessive spinocerebellar ataxia 17
info · Genetic
An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous mutation in the CWF19L1 gene on chromosome 10q24.
Signs and symptoms
- Mild intellectual disability
- Strabismus
- Dysmetria
- Dystonia
- Cerebellar atrophy
- Gait ataxia
- Hypotonia
- Ataxia
- Appendicular hypotonia
- Intention tremor
Also known as: SCAR17