Hereditary sensory and autonomic neuropathy type IIB (Q100554): Difference between revisions
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HSAN Tipo IIB é um transtorno autossômico recessivo devido a mutações no gene FAM134B. Apresenta-se na infância com grave perda de sensibilidade dolorosa e térmica, úlcero-mutilações e disfunção autonômica | |||
| description / en | description / en | ||
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 | |||
Revision as of 17:16, 16 August 2026
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 |
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| 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 |
