Moreover, several variants that cause rare diseases are unique to the Roma and have been only recently discovered: e.g., Charcot Marie Tooth disease type 4D and 4G (OMIM 601455 and 605,285), congenital cataract facial dysmorphism neuropathy (OMIM 604166), Gitelman syndrome (OMIM 263800), galactokinase deficiency (OMIM 230200), among others. Here, GALK1 is linked to Gitelman syndrome.