label: Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome
label_lc: cerebellar ataxia, neuropathy, and vestibular areflexia syndrome
description: "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."