Intellectual Developmental Disorder, Autosomal Dominant 34 (MRD34)

Alias:
Mrd34
Autosomal Dominant Non-Syndromic Intellectual Disability 34
Autosomal Dominant Intellectual Developmental Disorder 34
Mental Retardation, Autosomal Dominant, Type 34
Intellectual Disability, Autosomal Dominant 34
Mental Retardation, Autosomal Dominant 34
Autosomal Dominant Mental Retardation 34
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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34型,也被称为mrd34。与智力发育障碍,常染色体显性34型相关的基因是CERT1(神经酰胺转运蛋白1)。相关组织包括大脑,相关表型包括智力障碍和全球发育延迟。
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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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2
10
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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