Systematically assessing the clinical and facial features for the three individuals with pathogenic LoF rearrangements of SETBP1, summarized in Table 1, we found an overlapping of their clinical presentations with those described in the literature, including less frequently reported features such as febrile seizures (subjects 1 and 3), ankyloglossia (subject ID3), and cryptorchidism (subjects ID1 and ID3). The gene discussed is SETBP1; the disease is cryptorchidism.