Conditions / Genetic
autosomal recessive spinocerebellar ataxia 15
info ยท Genetic
An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous mutation in the RUBCN gene on chromosome 3q29.
Signs and symptoms
- Delayed speech and language development
- Mild intellectual disability
- Delayed ability to walk
- Dysarthria
- Gait ataxia
- Global developmental delay
- Ataxia
- Motor delay
- Unsteady gait
- Hyporeflexia of upper limbs
Also known as: SCAR15