has material basis in germline mutation in RFC1 hereditary sensory and autonomic neuropathy type 1 hereditary otorhinolaryngologic disease autosomal recessive syndromic cerebellar ataxia cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4894 https://github.com/monarch-initiative/mondo/issues/9795 https://www.malacards.org/card/cerebellar_ataxia_neuropathy_and_vestibular_areflexia_syndrome https://www.malacards.org/card/neuropathy_hereditary_sensory_and_autonomic_type_i_with_cough_and_gastroesophageal_reflux Orphanet:504476 hereditary sensory neuropathy type IB cerebellar ataxia with bilateral vestibulopathy syndrome neuropathy, hereditary sensory and autonomic, type 1B SCTID:717825008 OMIM:608088 HSAN1B 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. MEDGEN:482853 neuropathy, hereditary sensory, type IB Orphanet:139564 GARD:0017937 HSAN with cough and gastroesophageal reflux MONDO:0044720 hereditary sensory and autonomic neuropathy type 1 with cough and gastroesophageal reflux CABV syndrome hereditary sensory and autonomic neuropathy type IB CANVAS hereditary sensory and autonomic neuropathy type 1B HSN1B UMLS:C3281223 cerebellar ataxia, neuropathy, and vestibular areflexia syndrome MESH:C564296 DOID:0070148 OMIM:614575