Germline mutations in PHOX2B, located at 4p13, do not only predispose to multifocal neuroblastoma, but are also often present in conjunction with other neurocristopathies, such as Hirschsprung disease (HSCR) and congenital central hypoventilation syndrome (CCHS), and are viewed as the main causative mutation of the latter [22,23,24]. Here, PHOX2B is linked to Hirschsprung disease.