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[ASD Related Information] Genetic Disorder and ASD - 22q13.3 Microdefe…

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조회 342회 작성일 23-09-13

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[ASD Related Information] Genetic Disorder and Autism Spectrum Disorder (ASD)


※ 22q13.3 Microdefective Syndrome (Phelan-McDermid Syndrome)

It is a microdeletion syndrome of chromosome 22nd long arm (Q13.3) and is characterized by decreased muscle tension in newborns, delayed development, delayed language development, and normal development. It tends to easily fever due to cognitive impairment, thick, fleshy hands, abnormal toenail formation, and abnormal sweat secretion. In addition, they put or chew objects other than food in the mouth, have low sensitivity to pain, and exhibit autistic behavior.


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https://blog.naver.com/neuroventi2015/223197333745