Disease: Deficiency of succinate-CoA ligase ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2919758
Disease: Deficiency of succinate-CoA ligase
Deficiency of succinate-CoA ligase 		0.010 GeneticVariation disease BEFREE While the clinical and molecular findings have been reported in about 50 patients affected with a deficiency of succinate-CoA ligase caused by pathogenic variants in SUCLA2, this report describes the first known individual affected with both a mitochondrial depletion syndrome and trisomy 21. 28749033 2017