hereditary sensory and autonomic neuropathy type 2B (DOID:0070150)
Alliance: disease page
Synonyms: hereditary sensory and autonomic neuropathy type IIB; HSAN2B
Alt IDs: OMIM:613115
Definition: A hereditary sensory and autonomic neuropathy type 2 characterized by early childhood onset of distal sensory impairment that has_material_basis_in homozygous mutation in the FAM134B gene on chromosome 5p15.