Abstract: Objective: To summarize the clinical and genetic characteristics of SATB2-associated syndrome (SAS), and to provide evidence for early intervention and prenatal counseling. Methods: Children diagnosed as SAS by genetic testing were recruited from January 2016 to June 2020 in Children's Hospital of Fudan University. We analyzed the clinical and genetic features of these patients retrospectively. According to Human Gene Mutation Database(HGMD) and PubMed, literature on clinical phenotype and genetic characteristics of SAS were reviewed. Results: Thirteen children with SAS were included in this study, consisting of 7 males and 6 females. The age of genetic test ranged from 3 days to 9 years and 7 months (median age of 14 months). After psychomotor development was evaluated in 13 patients during the follow-up, all of them presented with developmental delay and all children over 1 year old had language retardation. Of the 8 cases undergoing brain MR examinations, 7 cases showed abnormal brain imaging. Four cases presented epilepsy. Two patients presented bone dysplasia and 4 individuals were hypotonia. Congenital heart defects were identified in 2 children. Physical examination showed that all of 13 children had malformation of small jaw and teeth, 4 cases were diagnosed with cleft palate, 3 patients' weight was 2 standard deviations lower than those of their peers, 2 children presented salivation, and 1 case occurred corneal leukoplakia. There were 4 cases of recurrent pulmonary infection and 1 patient accompanied with congenital laryngomalacia and vocal cord paralysis. Thirteen mutations of SATB2 were detected in 13 patients, including 6 missenses mutations (p.E436A, p.L261P, p.L626P, p.R399C, p.A590T, p.E566K ), 2 nonsense mutation (Q666Ter, R239 Ter), and 5 copy number variations resulting from deletion/duplication in region 3 of the long arm of chromosome 2. The mutations of R239 Ter and E566K were recorded in HGMD, and other variations were novel. Conclusion: SATB2-associated syndrome involves multiple system abnormalities, which needs to be confirmed by genetic testing. SATB2 gene can be regarded as an important candidate gene for the screening and diagnosis of neurodevelopmental disorders with unknown causes.