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GENATLAS PHENOTYPE

last update : 13/10/2006

Symbol	CCHS4
Location	12q23.2
Name	congenital central hypoventilation syndrome 4
Other name(s)	ondine curse, congenital
Corresponding gene	ASCL1
Main clinical features	abnormal control of ventilation in the absence of neuromuscular or lung disease life-threatening disorder characterized by persitent hypoventilation during sleep, beginning in the neonatal period
Genetic determination
Function/system disorder	respiratory
Type	disease

Remark(s)

ASCL1 may be involved in the pathogenesis of CCHS4