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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 21 (DEE21)
Alias:
Epileptic Encephalopathy, Early Infantile, 21
Dee21
Developmental and Epileptic Encephalopathy, 21
Eiee21
Encephalopathy, Epileptic, Early Infantile, Type 21
Early Infantile Epileptic Encephalopathy 21
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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21,也称为癫痫性脑病,早婴儿型,21,与发育性和癫痫性脑病7和早婴儿型癫痫性脑病有关。与发育性和癫痫性脑病21有关的重要基因是NECAP1(NECAP内吞相关1),其相关通路/超级通路包括心脏传导和背角神经元的神经性疼痛信号通路。附属组织包括大脑和眼睛,相关表型为胎儿运动减少和严重的全球发育延迟。
Related ID:
MALACARDS:DVL048
OMIM:615833
MESH:D013036
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
未知
--
15
216
3
DVL048
Medical Symptom
#
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
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Publications
No data available
References Literature
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IF
No Data Found!
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