SMAD4 and hereditary disease: Comparing subjects with ZSCAN10 deficiency with other genetic disorders associated with string interactors of ZSCAN10 (PBX1: OMIM #617641; SALL4: OMIM #607323; and SMAD4: OMIM #139210) or suggested interacting factors (CHD7: OMIM #214800)37 (Supplementary Table 2), the clusters of individuals harbouring pathogenic variants in ZSCAN10 and CHD7 partially overlapped (Fig. 3).