ZBTB18 and intellectual disability, autosomal dominant 22: In this report, we presented a novel pathogenic variant in the ZBTB18 gene that causes MRD22 syndrome by WES. The proband’s clinical presentations of intellectual disability, delayed speech, and abnormal brain MRI were similar with those previously reported cases in MRD22 syndrome or with a deletion of 1q43q44.[9] Based on our review of 9 articles retrieved from PubMed, 31 cases of MRD22 caused by ZBTB18 variants are summarized in Table 2.