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.