| Term Name: | cerebellar ataxia, neuropathy, and vestibular areflexia syndrome |
|---|---|
| Synonyms: | CANVAS, hereditary sensory and autonomic neuropathy type 1B, hereditary sensory neuropathy type 1B, hereditary sensory neuropathy type IB |
| Definition: | A syndrome characterized by adult onset of features ranging from isolated sensory peripheral neuropathy to slowly progressive cerebellar ataxia, neuropathy, and vestibular areflexia that has_material_basis_in homozygous or compound heterozygous pentanucleotide repeat expansion or truncation mutations in the RFC1 gene on chromosome 4p14. Additional associated features include cough and gastroesophageal reflux. |
| Ontology: | Human Disease [DOID:0070148] ( DOID:0070148 ) |