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GENATLAS PHENOTYPE |
last update : 16-11-2016 |
Symbol | HTX4 |
Location | 3p22.2 |
Name | abnormal left-right axis with heterotaxy (situs ambiguus), 4 |
Corresponding gene | ACVR2B |
Main clinical features | left-right axis malformations with heart defects, intestinal malrotation and spleen abnormalities |
Genetic determination | not applicable |
Function/system disorder | congenital malformation |
Type | disease |
Gene product |
Name | activin A receptor type IIB, mutated in very rare cases |
Remark(s) |