Several mutations that cause rare diseases unique to the Roma and have been discovered, e.g., Charcot Marie Tooth disease type 4D and 4G (OMIM #601455 and #605285), congenital cataract facial dysmorphism neuropathy (OMIM #604166), Gitelman syndrome (OMIM #263800), and Galactokinase deficiency (OMIM # 230200) [11,12]. The gene discussed is GALK1; the disease is Charcot-Marie-Tooth disease type 4D.