Hereditary sensory neuropathy-deafness-dementia syndrome
Hereditary sensory neuropathy-deafness-dementia syndrome
Definition
A hereditary sensory neuropathy characterized by adult onset of progressive peripheral sensory loss, progressive hearing impairment, and early-onset dementia that has material basis in heterozygous mutation in the DNMT1 gene on chromosome 19p13.
Also known as Hereditary Sensory and Autonomic Neuropathy Type 1E, hereditary sensory neuropathy-sensorineural hearing loss-dementia syndrome, HSAN1E, HSN1E — per MONDO