Disruptions of NCC development contribute to a number of congenital malformations such as Waardenburg syndrome (WS), velocardiofacial syndrome/DiGeorge syndrome, Hirschsprung's disease, congenital heart conditions, and craniofacial anomalies (Sedano et al, 1970; Fox et al, 1976; Pierpont et al, 2007; Uz et al, 2010). Here, SLC12A3 is linked to 22q11.2 deletion syndrome.