Hereditary sensory and autonomic neuropathy type IIC (Q100540): Difference between revisions
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Revision as of 17:15, 16 August 2026
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 |
||
| 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. |
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CID11:ID_1049947849
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dki-india-ID_1049947849
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Concluído
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