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 )

Relationships
is a type of: autosomal recessive disease syndrome