Intellectual Developmental Disorder, Autosomal Recessive 59 (MRT59)

Alias:
Mental Retardation, Autosomal Recessive 59
Mrt59
Autosomal Recessive Intellectual Developmental Disorder 59
Intellectual Disability, Autosomal Recessive 59
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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59,也称为精神发育迟滞,常染色体隐性59,与智力发育障碍,常染色体显性59和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59有关的重要基因是IMP1(肌醇单磷酸酶1)。相关组织包括大脑,相关表型为智力障碍和攻击行为。
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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
5
2

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

Name
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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