Intellectual Developmental Disorder, Autosomal Dominant 60, with Seizures (MRD60)

Alias:
Intellectual Developmental Disorder 60 with Seizures
Mrd60
Mental Retardation, Autosomal Dominant 60, with Seizures
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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60,伴有癫痫,也被称为智力发育障碍60伴有癫痫。与智力发育障碍,常染色体显性60,伴有癫痫有关的重要基因是AP2M1(适应蛋白复合物2亚基Mu 1)。相关表型是智力障碍和全身性肌张力减退。
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
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1
4
1

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

Category
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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