Hereditary sensory and autonomic neuropathy type IIC (Q100540)
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HSAN Type IIC is an autosomal recessive disorder due to mutations in the KIF1A gene. It presents in childhood with severe loss of pain, temperature, vibration and position sensation, ulcero-mutilation, distal muscle weakness, developmental delay and short stature.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_1049947849 |
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| English | Hereditary sensory and autonomic neuropathy type IIC |
HSAN Type IIC is an autosomal recessive disorder due to mutations in the KIF1A gene. It presents in childhood with severe loss of pain, temperature, vibration and position sensation, ulcero-mutilation, distal muscle weakness, developmental delay and short stature. |
