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GENATLAS PHENOTYPE
last update : 20-11-2013
Symbol AVSD4
Location 8p23.1
Name atrioventricular septal defect 4
Corresponding gene GATA4
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
Remark(s)