DNM1L, dynamin 1 like, 10059

N. diseases: 273; N. variants: 15
Disease: Profound intellectual disabilities ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3161330
Disease: Profound intellectual disabilities
Profound intellectual disabilities 		0.100 CausalMutation disease CLINVAR DNM1L-related mitochondrial fission defect presenting as refractory epilepsy. 26604000 2016
CUI: C3161330
Disease: Profound intellectual disabilities
Profound intellectual disabilities 		0.100 CausalMutation disease CLINVAR A novel de novo dominant negative mutation in DNM1L impairs mitochondrial fission and presents as childhood epileptic encephalopathy. 27145208 2016