Neurodevelopmental Disorder with Intracranial Hemorrhage, Seizures, and Spasticity (NEDIHSS)

Alias:
Nedihss
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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
神经发育障碍伴颅内出血、癫痫和痉挛,也称为nedihss。与神经发育障碍伴颅内出血、癫痫和痉挛有关的重要基因是ESAM(内皮细胞粘附分子)。相关组织包括内皮细胞和大脑。

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
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1
5
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

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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