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GENATLAS PHENOTYPE

last update : 26-11-2013

Symbol	AVSD3
Location	6q22.31
Name	atrioventricular septal defect 3
Corresponding gene	GJA1
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
	cardiovascular
Type	disease

Remark(s)