Condition: Encephalopathy, CTCAE 3.0


rs1064795104 in EXOC6B gene and Encephalopathy, CTCAE 3.0 PMID 25256811 2014 Mosaic deletion of EXOC6B: further evidence for an important role of the exocyst complex in the pathogenesis of intellectual disability.

PMID 23422942 2013 Disruption of EXOC6B in a patient with developmental delay, epilepsy, and a de novo balanced t(2;8) translocation.

rs1057519566 in MDH2 gene and Encephalopathy, CTCAE 3.0 PMID 27989324 2017 Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy.