Hereditary sensory and autonomic neuropathy type IIA (Q100555)
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HSAN Type IIA is an autosomal recessive disorder due to mutations in the WNK1 gene. It presents in early childhood or congenitally with severe distal sensory loss to touch, pain, temperature, acral mutilations and mild or asymptomatic autonomic dysfunction.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_2050984064 |
||
| English | Hereditary sensory and autonomic neuropathy type IIA |
HSAN Type IIA is an autosomal recessive disorder due to mutations in the WNK1 gene. It presents in early childhood or congenitally with severe distal sensory loss to touch, pain, temperature, acral mutilations and mild or asymptomatic autonomic dysfunction. |
Statements
CID11:ID_2050984064
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