Condition: Athetosis


rs1114167423 in APTX gene and Athetosis PMID 28652255 2017 Identification of a novel mutation in the APTX gene associated with ataxia-oculomotor apraxia.

rs797045164 in KIF1A gene and Athetosis PMID 26486474 2016 De novo dominant variants affecting the motor domain of KIF1A are a cause of PEHO syndrome.