Intellectual Developmental Disorder, X-Linked 50 (XLID50)

Alias:
Xlid50
Mrx50
Non-Syndromic X-Linked Intellectual Disability 50
Mental Retardation, X-Linked 50
X-Linked Intellectual Developmental Disorder 50
Intellectual Disability, X-Linked 50
X-Linked Mental Retardation 50
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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,X连锁50,也称为xlid50,与雷诺-克莱斯综合症和clcn4相关的神经发育障碍有关。与智力发育障碍,X连锁50有关的重要基因是SYN1(突触素I)。附属组织包括脑和眼,相关表型为智力障碍,轻度。
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
X显
X染色体
X隐
未知
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1
8
7

Medical Symptom

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

Gene & Mutation

#
Gene
Function
Score
Mutations
No data available

Related Drugs

Name
CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

Title
PMID
Journal
Year
IF
No Data Found!
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