Condition: Profound intellectual disabilities


rs387906799 in KIF1A gene and Profound intellectual disabilities PMID 26486474 2016 De novo dominant variants affecting the motor domain of KIF1A are a cause of PEHO syndrome.

rs863223953 in YARS2;DNM1L gene and Profound intellectual disabilities PMID 26604000 2016 DNM1L-related mitochondrial fission defect presenting as refractory epilepsy.

PMID 27145208 2016 A novel de novo dominant negative mutation in DNM1L impairs mitochondrial fission and presents as childhood epileptic encephalopathy.