中文摘要：

x染色体连锁智力障碍（X-1inked intellectual disability,XUD）是一类位于x染色体上的基因发生突变引起的先天性智力障碍，所涉及的先天性智力障碍约占所有先天性智力障碍的15％。依据除了智力障碍外是否有其他生理方面的缺陷，XLID分为两类：S-XLID（syndromic forms）和NS．XLID（non-syndromic forms）。S-XLID表现在除了智力障碍外，还在新陈代谢方面、神经特征或者其他的体征——如骨骼、颅面部上有异常或者缺陷。该文对近年来XLID的致病机制研究进展作了部分阐述。

英文摘要：

X-linked intellectual disability （XLID） is a class of mental disorders caused by a variety of gene mutations on the X chromosome. XLID accounts for 15% of the cases of intellectual disability worldwide. Historically, XLID has been categorized into syndromic （S-XLID） and non-syndromic （NS-XLID） based on other physiological characteristics in addition to intellectual disability. S-XLID is characterized by intellectual and learning disability with other features such as body dysmorphic, metabolic and neuromuscular disorders. This mini- review summarizes recent advances in genetic studies of XLID.