Neurodevelopmental Disorder with or Without Autistic Features and/or Structural Brain Abnormalities (NEDASB)

Alias:
Nedasb
Neurodevelopmental Disorder with/without Autistic Features and/or Structural Brain Abnormalities
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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
具有或不具有自闭症特征和/或结构脑异常的神经发育障碍,也称为nedasb,与自闭症和先天性半侧发育不全、鱼鳞病样红皮病和肢体缺陷有关。与具有或不具有自闭症特征和/或结构脑异常的神经发育障碍有关的重要基因是NOVA2(NOVA替代剪接调节因子2)。相关组织包括大脑和眼睛,相关表型为智力障碍和语言发育延迟。
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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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1
7
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
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Score
Mutations
No data available

Related Drugs

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CAS Number
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No data available

Disease Model

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Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
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IF
No Data Found!
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