Hereditary sensory and autonomic neuropathy type IIC (Q100540): Difference between revisions
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HSAN Tipo IIC é um transtorno autossômico recessivo devido a mutações no gene KIF1A. Apresenta-se na infância com grave perda sensibilidade a dor, temperatura, vibração e sensação de posição, úlcero-mutilação, fraqueza muscular distal, atraso no desenvolvimento e baixa estatura. | |||
| description / en | description / en | ||
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. | |||
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 |
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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. |
