cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome
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.
MONDO:0018213
hereditary sensory and autonomic neuropathy type 1
is_a
MONDO:0018751
hereditary otorhinolaryngologic disease
is_a
MONDO:0020047
autosomal recessive syndromic cerebellar ataxia
is_a
CABV syndrome
exact
CANVAS
exact
HSAN with cough and gastroesophageal reflux
exact
HSAN1B
exact
HSN1B
exact
cerebellar ataxia with bilateral vestibulopathy syndrome
exact
cerebellar ataxia, neuropathy, and vestibular areflexia syndrome
exact
hereditary sensory and autonomic neuropathy type 1 with cough and gastroesophageal reflux
exact
hereditary sensory and autonomic neuropathy type 1B
exact
hereditary sensory and autonomic neuropathy type IB
exact
hereditary sensory neuropathy type IB
exact
neuropathy, hereditary sensory and autonomic, type 1B
exact
neuropathy, hereditary sensory, type IB
exact
SPBC23E6.07c