Metabolic disorders dominate the cohort: six high-frequency genes (HFE, CFTR, ATP7B, GALT, PAH, BTD), five medium-frequency genes (ACADM, ALDOB, DHCR7, GAA, GBA1), and six low-frequency genes (ACAD9, SLC12A3, SLC22A5, GBE1, LDLR, LIPA), collectively associated with 17 important genetic diseases for Western Romania (Table 4). Here, BTD is linked to Other metabolic disease.