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.