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). Here, EARS2 is linked to Mitochondrial disorder due to a defect in mitochondrial protein synthesis.