Missense mutations in human CRELD1 are linked to atrioventricular septal defects (AVSD) (Robinson et al., 2003) and in mice Creld1-/- embryos die at embryonic day 11.5 with several defects including heart development defects (Mass et al., 2014). The gene discussed is CRELD1; the disease is familial atrioventricular septal defect.