Intellectual Developmental Disorder, Autosomal Recessive 54 (MRT54)

Alias:
Mental Retardation, Autosomal Recessive 54
Mrt54
Autosomal Recessive Intellectual Developmental Disorder 54
Intellectual Disability, Autosomal Recessive 54
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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54,也被称为精神发育迟滞,常染色体隐性54。与智力发育障碍,常染色体隐性54有关的重要基因是TNIK(TRAF2和NCK相互作用激酶)。相关组织包括大脑,相关表型包括智力障碍和情绪不稳。
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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
9
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

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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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