Different heterozygous mutations of PHOX2B are known to cause Congenital Central Hypoventilation Syndrome (CCHS) (OMIM# 209880), a rare disease characterized by impaired ventilator response to hypercapnia and hypoxia, often associated with HSCR and neuroblastomas [1]. Here, PHOX2B is linked to central hypoventilation syndrome, congenital.