SATB2基因相关综合征

定义 英文原文（暂无中文）

A rare multisystem disorder characterized by moderate to severe developmental delay/intellectual disability (DD/ID) with absent or limited speech development, various behavioral problems (including autistic features, hyperactivity, or aggressiveness), craniofacial and oral features. Hypotonia and feeding difficulties are frequent manifestations, especially during the neonatal period and early childhood. Other supportive findings may include abnormal brain imaging, EEG abnormalities, epilepsy and skeletal anomalies with low bone density.

别名

SAS

基本事实

遗传方式

常染色体显性

发病年龄

婴儿期、新生儿期

患病率

1-9 / 100 000

外部标识与链接