Several syndromes, including the H syndrome (Molho-Pessach et al., 2008, 2014; Bolze et al., 2012; Huber-Ruano et al., 2012) and the pigmented hypertrichosis with insulin dependent diabetes (PHID) syndrome (Spiegel et al., 2010) have been associated with mutations in the SLC29A3 gene. The gene discussed is SLC29A3; the disease is H syndrome.