Home Page
References OMIM Gene GeneReviews HGMD HGNC
GENATLAS PHENOTYPE
last update : 28-11-2012
Symbol DIH2
Location 8p23.1
Name congenital diaphragmatic hernia and 8p23.1 deletion
Corresponding gene GATA4 , SOX7
Other symbol(s) CDH, DEL8P23
Main clinical features
  • diaphragmatic hernia
  • see DEL8P23
  • Genetic determination chromosomal
    Related entries CDH15Q, CDH1Q
    Function/system disorder respiratory
    Type malformation
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
      deletion    
    Remark(s) There is evidence for substantial genetic heterogeneity in CDH.