目的 总结SETBP1基因单倍剂量不足发育障碍（SETBP1-HD）患者的临床表型和基因变异特点。方法 回顾性收集2019年1月至2021年12月就诊的3例SETBP1-HD患儿资料，总结其基因变异及临床特征。结果 3例患儿中，1男，2女（为同卵双胎），年龄分别为5岁和1岁5个月，均表现为中度智力障碍/发育迟缓，存在运动和语言发育落后。其中例1的语言理解能力相对语言表达能力较好，伴注意力不集中。例2和例3有热性惊厥。3例患儿均无明显孤独症样表现，头颅MRI平扫和视频脑电图未见特异性表现。3例患儿SETBP1基因均发生新生杂合变异，例1为移码变异（c.607delG / p.Gly203Valfs*4），例2和例3为无义变异（c.1873C>T / p.Arg625*）。结论 SETBP1-HD是与Schinzel-Giedion综合征不同的疾病表型。SETBP1-HD患者以智力障碍、言语和语言障碍、运动发育迟缓为主要临床特征，其中言语和语言障碍是该病患者的核心症状，部分患者可伴行为问题和惊厥发作。SETBP1基因功能缺失变异导致单倍剂量不足是该病的发病原因。康复训练、行为疗法、抗惊厥药物等支持性治疗可让患者部分获益，产前诊断是预防本病的重要措施。

Objective To summarize the clinical phenotype and genetic variation characteristics of patients with SETBP1 haploinsufficiency disorder (SETBP1-HD). Methods The genetic variations and clinical characteristics of three children with SETBP1-HD from January 2019 to December 2021 were retrospectively analyzed. Results Three SETBP1-HD children, 1 boy and 2 girls (identical twins), were 5 years old and 5 months old respectively. All patients presented moderate intellectual disabilities, motor and language developmental retardation. Compared with the verbal expression ability, the language comprehension ability of case 1 was better, and the child also had attention deficits. Case 2 and case 3 had febrile seizures. No obvious autism-like manifestations were observed in the 3 cases, and no specific manifestations were observed on head MRI scan and video electroencephalogram. De novo heterozygous variations in SETBP1 gene were found in all patients, including a frameshift variation (c.607delG/p.Gly203Valfs*4) from case 1 and a nonsense variation (c.1873C>T/p.Arg625*) from case 2 and case 3. Conclusions SETBP1-HD is a different phenotype from Schinzel-Giedion syndrome. The main clinical features of SETBP1-HD are intellectual disabilities, speech and language disorder, and motor developmental retardation. Speech and language disorders are the core symptoms of the disease. Some patients may have behavioral problems and convulsive seizures. Loss of function variation in SETBP1 resulting in haploinsufficiency is the cause of this disease. Patients can benefit partially from supportive treatment such as rehabilitation training, behavioral therapy, and anticonvulsant medication. Prenatal diagnosis is an important measure to prevent this disease.