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GENATLAS PHENOTYPE

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