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COL4A5 c.1390G>A
ALS1
DMD c.1332-11868C>G
TP53
肌萎缩侧索硬化症1型
USH2A c.8559-2A>G
囊性纤维化
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中文
罕见病
Developmental and Epileptic Encephalopathy 31a (DEE31A)
Alias:
Developmental and Epileptic Encephalopathy 31
Dee31a
Dee31
Developmental and Epileptic Encephalopathy, 31
Epileptic Encephalopathy, Early Infantile, 31
Eiee31
Developmental and Epileptic Encephalopathy 31a, Autosomal Dominant
Evelopmental and Epileptic Encephalopathy, Type 31
Early Infantile Epileptic Encephalopathy 31
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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31a,也称为发育性和癫痫性脑病31,与刻板运动障碍和艾瑟洛普拉斯米病有关。与发育性和癫痫性脑病31a相关的重要基因是DNM1(动力蛋白1)。相关组织包括大脑,相关表型为智力障碍和肌张力低下。
Related ID:
MALACARDS:DVL154
OMIM:616346
MESH:D013036
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
未知
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2
18
20
DVL154
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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