The disorders known to be associated with the affected genes range from embryonic lethality (e.g., MRPL55 [65] and LIG3 [66]) and metabolic diseases (e.g. acyl-CoA synthetase long chain family member 5 (ACSL5) [67]) to neurodevelopmental disorders (e.g., methionyl-tRNA synthetase 2 (MARS2) [68]) (Tables 5 and 6). The gene discussed is MARS2; the disease is metabolic disease.