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COL4A5 c.1390G>A
ALS1
DMD c.1332-11868C>G
TP53
肌萎缩侧索硬化症1型
USH2A c.8559-2A>G
囊性纤维化
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中文
罕见病
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。
Related ID:
MALACARDS:INT561
OMIM:617798
MESH:D008607
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
INT561
Medical Symptom
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Description
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Orphanet Frequency
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No data available
Gene & Mutation
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No data available
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Name
MGI
Related Gene
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No data available
References Literature
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