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C177252Level 9

Autosomal Recessive Spastic Ataxia-2

**Semantic type:** Disease or Syndrome

**Definition:** An autosomal recessive condition caused by mutation(s) in the KIF1C gene, encoding kinesin-like protein KIF1C. It is characterized by cerebellar ataxia, dysarthria, and variable spasticity of the lower limbs.

**Synonyms:** - Autosomal Spastic Paraplegia Type 58 - SPAX2 - SPG58

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