Hereditary sensory and autonomic neuropathy type IIB (Q100554)
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HSAN Type IIB is an autosomal recessive disorder due to mutations in the FAM134B gene. It presents in childhood with severe loss of pain and temperature sensations, ulcero-mutilations and autonomic dysfunction
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_1850246922 |
||
| English | Hereditary sensory and autonomic neuropathy type IIB |
HSAN Type IIB is an autosomal recessive disorder due to mutations in the FAM134B gene. It presents in childhood with severe loss of pain and temperature sensations, ulcero-mutilations and autonomic dysfunction |
Statements
CID11:ID_1850246922
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