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