Intellectual Developmental Disorder, Autosomal Recessive 52 (MRT52)

Alias:
Mrt52
Autosomal Recessive Intellectual Developmental Disorder 52
Intellectual Disability, Autosomal Recessive 52
Mental Retardation, Autosomal Recessive, 52
Mental Retardation, Autosomal Recessive 52
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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,常染色体隐性52型,也称为mrt52,与常染色体隐性智力发育障碍有关。与智力发育障碍,常染色体隐性52型有关的重要基因是LMAN2L(甘露糖结合凝集素2样)。相关表型为智力障碍,严重和攻击性行为。
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
未知
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1
3
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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