IFT140 and familial atrioventricular septal defect: Both Ift140 mutants exhibited a similar wide array of SBD, including left-right patterning defects with randomization of heart looping, macrostomia, exencephaly and neural tube closure defects, polydactyly, body wall closure defects with omphalocele and ectopia cordis, diaphragmatic hernia, CHD with OFT septation and malalignment defects, and AVSD.