cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome

Findings

No curated finding names cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Definition

Inheritance

Autosomal recessive inheritance

Onset and course

Adult onset · Slowly progressive

HPO, annotations 2026-09-02

What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.

Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.

Where it sits

A kind of

• autosomal recessive syndromic cerebellar ataxia
• hereditary otorhinolaryngologic disease
• hereditary sensory and autonomic neuropathy type 1

Resolves to: cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome

Also called

CABV syndromeCANVAScerebellar ataxia with bilateral vestibulopathy syndromecerebellar ataxia, neuropathy, and vestibular areflexia syndromehereditary sensory and autonomic neuropathy type 1 with cough and gastroesophageal refluxhereditary sensory and autonomic neuropathy type 1Bhereditary sensory and autonomic neuropathy type IBhereditary sensory neuropathy type IBHSAN with cough and gastroesophageal refluxHSAN1BHSN1Bneuropathy, hereditary sensory and autonomic, type 1Bneuropathy, hereditary sensory, type IB