Home Page
References OMIM Gene GeneReviews HGMD HGNC
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