Therefore, though neoplasia has not been reported previously in the published literature as a feature of a SETD2 NDD, we are aware of an additional and unpublished case of a SETD2 NDD patient with osteosarcoma (J. Bernat, personal communication) and this aspect requires further investigation and clinicians looking after these individuals should be aware of a possible causal association. This evidence concerns the gene SETD2 and neoplasm.