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GENATLAS PHENOTYPE

last update : 20-11-2013

Symbol	AVSD5
Location	18q11.2
Name	atrioventricular septal defect 5
Corresponding gene	GATA6
Main clinical features	congenital heart malformations characterized by a common atrioventricular junction coexisting with deficient atrioventricular septation; in ostium primum atrial septal defect (ASD) there are separate atrioventricular valvar orifices despite a common junction, whereas in complete AVSD the valve itself is also shared
Genetic determination	not applicable
Function/system disorder	cardiovascular
Type	disease

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