LMBRD1 and metabolic disease: Interestingly, so far reported individuals with metabolic disorders in cobalamin metabolism had homozygous deletions or canonical splice site variants in LMBRD1. Here, a novel homozygous missense variant in LMBRD1 in an individual with heterotaxy and CHD but without metabolic abnormalities could be found suggesting the possible involvement of LMBRD1 in isolated cardiovascular laterality defects is independent of a metabolic disorder.