After filtering steps were applied to 30,000 variants, we removed artifacts and false positive variants, and performed our analysis on the 25,000 remaining variants that revealed the presence of three heterozygous nuclear variants in the EARS2, MTFMT, and NARS2 genes, all linked to combined oxidative phosphorylation deficiency (COXPD) (Table 1). The gene discussed is MTFMT; the disease is Mitochondrial disorder due to a defect in mitochondrial protein synthesis.