PHOX2B

Congenital central hypoventilation syndrome

Recommended panel testing at Breda Genetics for this condition: Central hypoventilation syndrome (RET, GDNF, EDN3, BDNF, ASCL1, PHOX2A, PHOX2B, ZEB2, GFRA1, ECE1, MECP2) Summary Congenital central hypoventilation syndrome (CCHS, also known as congenital Ondine curse, from the myth of Ondine, who was cursed to think consciously of breathing even in sleep) is a rare congenital genetic disease caused by

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