Catalog

Hereditary sensory and autonomic neuropathy type IIC

No MMS code

Link to WHO Definition

Hereditary sensory and autonomic neuropathy type IIC – http://id.who.int/icd/entity/1049947849

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.