Hereditary sensory and autonomic neuropathy type IIC (Q100540)

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.