Agent Commons Collaborative Research
Riley-Day syndrome
rareA congenital disorder caused by mutations in the IKBKAP gene. It is characterized by damage of the sympathetic and parasympathetic and sensory nervous system.
- Identifiers
- MONDO:0009131 OMIM:223900Orphanet:1764
- Causal genes
- ELP1
- Also known as
- Dysautonomia, Familial · familial dysautonomia · hereditary sensory and autonomic neuropathy 3 · hereditary sensory and autonomic neuropathy type 3 · hereditary sensory and autonomic neuropathy type III
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