Disease: Mitochondrial encephalopathy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1852373
Disease: Mitochondrial encephalopathy
Mitochondrial encephalopathy 		0.010 GeneticVariation disease BEFREE Suspected clinical diagnoses prior to identification of PLPBP variants included mitochondrial encephalopathy (two patients), folinic acid-responsive epilepsy (one patient) and a movement disorder compatible with AADC deficiency (one patient). 30668673 2019