This does not come as a total surprise, as several known HSCR genes (e.g., KBP, SOX10, NRG1, IKBKAP, ZEB2, PHOX2B) are involved in both CNS and ENS pathologies [2, 41–43] and the fact that HSCR is strongly associated with Down syndrome. The gene discussed is SOX10; the disease is Down syndrome.