Whole exome sequencing identified a heterozygous de novo variant NM_020988.3: c.116_118dup; p.Leu39_Gly40insVal (L39_G40insV) in GNAO1, as well as two heterozygous variants in the HFE gene related to hemochromatosis. This evidence concerns the gene GNAO1 and hemochromatosis.