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 Here, we identify QIL1 null alleles in two siblings displaying multiple clinical symptoms of early-onset fatal mitochondrial encephalopathy with liver disease, including defects in respiratory chain function in patient muscle. 27623147 2016