hereditary sensory neuropathy-deafness-dementia syndrome (Q50349724)
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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
- HSN1E
- hereditary sensory neuropathy type IE
- NEUROPATHY, HEREDITARY SENSORY, TYPE IE
- Hereditary sensory neuropathy-sensorineural hearing loss-dementia syndrome
- HSAN1E
- Neuropathy, Hereditary Sensory, With Hearing Loss and Dementia
- HSN 1E
- NEUROPATHY, HEREDITARY SENSORY, TYPE IE; HSN1E
- hereditary sensory neuropathy type 1E
Language | Label | Description | Also known as |
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English | hereditary sensory neuropathy-deafness-dementia syndrome |
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 |
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