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References OMIM Gene GeneReviews HGMD HGNC
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