hereditary sensory neuropathy-deafness-dementia syndrome
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.
MONDO:0003406
sleep-wake disorder
is_a
MONDO:0015547
hereditary dementia
is_a
MONDO:0018213
hereditary sensory and autonomic neuropathy type 1
is_a
MONDO:0024237
inherited neurodegenerative disorder
is_a
DNMT1-related dementia, deafness, and sensory neuropathy
related
HSAN1E
exact
HSN1E
exact
HSNIE
related
Hereditary Sensory and Autonomic Neuropathy Type 1E
exact
hereditary sensory and autonomic neuropathy type 1E
related
hereditary sensory neuropathy with hearing loss and dementia
related
hereditary sensory neuropathy-sensorineural hearing loss-dementia syndrome
exact
neuropathy, hereditary sensory, type IE
related
SPCC970.07c