A single point mutation in CTDP1 was identified as the cause of a diverse phenotype in the Vlax Roma population, including congenital cataracts, facial dysmorphisms, and neuropathy, referred to as CCFDN (Congenital Cataracts, Facial Dysmorphism, and Neuropathy) syndrome (Varon et al., 2003). The gene discussed is CTDP1; the disease is neuropathy.