Condition: Abnormality of the endocrine system


rs863223953 in YARS2;DNM1L gene and Abnormality of the endocrine system PMID 27145208 2016 A novel de novo dominant negative mutation in DNM1L impairs mitochondrial fission and presents as childhood epileptic encephalopathy.

PMID 26604000 2016 DNM1L-related mitochondrial fission defect presenting as refractory epilepsy.