Among five patients with hereditary sensory neuropathy, 2 of 5 (40%) had pathogenic variants: one in PRDM12 and one in KIF1A. The PRDM12 variant was associated with early-onset symptoms, including constipation, corneal ulcers, self-mutilation (lip and finger autoamputation), and axonal sensory polyneuropathy. Here, PRDM12 is linked to hereditary sensory and autonomic neuropathy.