Intellectual Developmental Disorder, Autosomal Dominant 53 (MRD53)

Alias:
Intellectual Disability, Autosomal Dominant 53
Mrd53
Autosomal Dominant Intellectual Developmental Disorder 53
Mental Retardation, Autosomal Dominant, Type 53
Mental Retardation, Autosomal Dominant 53
Autosomal Dominant Mental Retardation 53
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基础信息
疾病表征
基因 & 突变
靶点药物
疾病模型
文献报道
智力发育障碍,常染色体显性53,也被称为智力障碍,常染色体显性53。与智力发育障碍,常染色体显性53有关的重要基因是CAMK2A(钙/钙调蛋白依赖性蛋白激酶IIα)。相关组织包括大脑,相关表型包括智力障碍和语言发育延迟。
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
未知
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1
18
6

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Gene
Function
Score
Mutations
No data available

Related Drugs

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CAS Number
Status
Phase
No data available

Disease Model

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Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
Journal
Year
IF
No Data Found!
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