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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