Prieto Syndrome (PRS)

Prieto Syndrome(来自ICD-11)
别称:
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome
Prieto-Badia-Mulas Syndrome
Prieto X-Linked Mental Retardation Syndrome
Mental Retardation, X-Linked, with Dysmorphism and Cerebral Atrophy
Mental Retardation, X-Linked, Syndromic 2
Mrxs2
Prs
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Prieto Syndrome, also known as x-linked intellectual disability-dysmorphism-cerebral atrophy syndrome, is related to phosphoribosylpyrophosphate synthetase superactivity and pierre robin syndrome. An important gene associated with Prieto Syndrome is PRS (Prieto X-Linked Mental Retardation Syndrome). Affiliated tissues include skin, and related phenotypes are intellectual disability and ptosis
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基础信息

遗传方式
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患病率/发病率
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参考文献
MALACARDS
XL
XLD
Child
<1/1000000
2
20
2

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靶点药物

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MGI
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