Hereditary sensory neuropathy-deafness-dementia syndrome

MONDO:0013584

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: HSAN1E, HSN1E, Hereditary Sensory and Autonomic Neuropathy Type 1E, hereditary sensory neuropathy-sensorineural hearing loss-dementia syndrome, DNMT1-related dementia, deafness, and sensory neuropathy, HSN 1E, HSNIE, hereditary sensory and autonomic neuropathy type 1E

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