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References OMIM Gene GeneReviews HGMD HGNC
last update : 05-02-2010
Symbol HLHS1
Location 6q22.31
Name hypoplastic left heart syndrome 1
Corresponding gene GJA1
Main clinical features
  • spectrum of left ventricular outflow tract obstruction (LVOTO) consists of hypoplastic left heart or left ventricle, aortic valve stenosis and bicuspid aortic valve, hypoplastic aortic arch, and coarctation of the aorta
  • Genetic determination autosomal recessive
    Related entries including atrioventricular canal defect (OMIM: 600309)
    Function/system disorder cardiovascular
    Type disease