BTD and biotinidase deficiency: The variants with the highest allele frequencies included: rs1800562 (c.845G>A; p.Cys282Tyr) in the HFE gene (7.54%), associated with hereditary hemochromatosis; rs13078881 (c.1270G>C; p.Asp424His) in the BTD gene (7.08%), linked to biotinidase deficiency; rs61816761 (c.1501C>T; p.Arg501Ter) in the FLG gene (3.38%), associated with ichthyosis vulgaris and atopic dermatitis type 2; and rs147021911 (c.5101C>T; p.Gln1701Ter) in the FANCM gene (3.08%), related to cancer susceptibility, among others (Table 1).