Disease association ontology term - MONDO:0044720 - cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome
Term summary
- ID
- MONDO:0044720
- Name
- cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome
- Ontology or CV name
- Disease association
- Definition
- An autosomal recessive syndromic cerebellar ataxia caused by variation in the RFC1 gene, characterized by late-onset cerebellar dysfunction (including gait and limb ataxia, nystagmus, and dysarthria), bilateral vestibulopathy (abnormal vestibulo-ocular reflex), and axonal sensory neuropathy. Variable features may include chronic cough and autonomic dysfunction. Brain imaging usually shows cerebellar atrophy.
