autism, susceptibility to, type 16

(redirected from AUTS16)

autism, susceptibility to, type 16

A clinical form (OMIM:613410) of autism associated with epilepsy.
 
Molecular pathology
Caused by defects of SLC9A9, which encodes a sodium-proton exchanger that plays a key role in maintaining cation homeostasis in the Golgi and post-Golgi compartments.