World Of Taxonomy
C202046Level 4

Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome

**Semantic type:** Disease or Syndrome

**Definition:** A rare autosomal recessive condition caused by mutation(s) in the RFC1 gene, encoding replication factor C subunit 1. It is characterized by cerebellar dysfunction, bilateral vestibulopathy, and axonal neuropathy.

**Synonyms:** - CANVAS

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