Developmental and Epileptic Encephalopathy 72 (DEE72)

Alias:
Dee72
Developmental and Epileptic Encephalopathy, 72
Epileptic Encephalopathy, Early Infantile, 72
Eiee72
Encephalopathy, Developmental and Epileptic, 72
Early Infantile Epileptic Encephalopathy 72
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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
发育性和癫痫性脑病72,也被称为dee72。与发育性和癫痫性脑病72相关的重要基因是NEUROD2(神经元分化2)。相关组织包括眼睛,相关表型为全球发育延迟和婴儿痉挛。
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
未知
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1
6
1

Medical Symptom

#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

#
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

Title
PMID
Journal
Year
IF
No Data Found!
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