Catalog

Hereditary sensory and autonomic neuropathy Type IC

No MMS code

Link to WHO Definition

Hereditary sensory and autonomic neuropathy Type IC – http://id.who.int/icd/entity/1080311032

HSAN Type IC is the result of a mutation in the SPLTC2 gene and presents with loss of pain and temperature sensations, occasional autonomic involvement, variable sensorineural deafness and distal motor involvement.

Parents