ECHS1 and Wilson disease: The carrier rate was detected as 2.94% for ATP7B, GALC, PYGM, COL4A3, CYP11B2, ECHS1, HBA1, LAMA2, OPHN1, and POLR3A genes, which cause Wilson disease (OMIM®: 277900), Krabbe disease (OMIM®: 245200), McArdle disease (OMIM®: 232600), Alport syndrome 2 (OMIM®: 203780), hypoaldosteronism (OMIM®: 203400 and 610600), mitochondrial short-chain enoyl-CoA hydratase 1 deficiency (OMIM®: 616277), α-thalassemia (OMIM®: 604131), muscular dystrophy (OMIM®: 607855 and 618138), and leukodystrophy or Wiedemann–Rautenstrauch syndrome (OMIM®: 607694 and 264090), respectively.