Notably, a dominant mode of inheritance was suggested for two patients: a 3-year-old boy who carried a de novo heterozygous 3.9-Mb deletion affecting at least 80 genes, including COQ4, who displayed intellectual disability, encephalomyopathy, and dysmorphic features (Salviati, et al., 2012), and a 4-year-old girl with a heterozygous COQ4 c.483 G > C variant who displayed severe metabolic/mitochondrial deficits, extensive muscle damage, and lethal rhabdomyolysis (Romero-Moya, et al., 2017b). The gene discussed is COQ4; the disease is Intellectual disability.