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References OMIM Gene GeneReviews HGMD HGNC
last update : 27/09/2006
Symbol HLHS2
Location 11q24.3
Name hypoplastic left heart syndrome 2
Corresponding gene ETS1
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
Function/system disorder cardiovascular
Type disease
Remark(s) HLHS is frequently observed in Jacobsen syndrome