Hereditary sensory and autonomic neuropathy type III.
- Specialty
- Neurology
- Subspecialty
- Neurology / Neurodegenerative syndromes
- Sex & age distribution
- Male: affected; Female: affected; Children: yes, Ashkenazi Jewish
- Gene(s) involved
- ELP1
- Alternative names & eponyms
- Familial dysautonomia
Etiology & mechanism
IKBKAP/ELP1 splicing defect.
Gene(s) involved (1)
Symptoms & signs (5)
In plain terms, someone with Riley–Day syndrome may experience the following — click any to explore related syndromes:
Same gene(s)
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Overlapping symptoms
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Shares symptoms with
Shares genes with
None.
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