体格检查呈高腭弓，双手轮替动作试验、跟-膝-胫试验和指鼻试验均不能完成，并有锥体束征；

Physical examination: the patient can not complete both hands alternating movement test, heel-knee-tibia test, and finger-nose test, and presented pyramidal sign.

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其主要临床特征为智力低下、特殊的外貌特征（包括长脸、大耳廓、下颌突出、巨头、腭弓高、大睾丸等）、行为及认知障碍、多动、注意力难集中以及孤独、自闭等症状。

FXS is characterized by X-linked mental retardation with additional features such as a long face with large protruding ears, macroorchidism, and eye-gaze avoidance etc.

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