CHD7 and CHARGE syndrome: We herein report a patient clinically diagnosed with typical CHARGE syndrome that fulfilled both Blake and Verloes criteria (Blake et al., 1998; Verloes, 2005), but who was genetically diagnosed with atypical KS based on the presence of a de novo KMT2D mutation and the absence of pathogenic variation in CHD7. This case demonstrates the phenotypic overlap between CHARGE syndrome and KS.