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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
Lethal Neonatal Spasticity-Epileptic Encephalopathy Syndrome
Alias:
Lethal Neonatal Rigidity-Multifocal Seizure Syndrome
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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
致死性新生儿痉挛-癫痫性脑病综合征,也称为致死性新生儿僵直-多灶性发作综合征。与致死性新生儿痉挛-癫痫性脑病综合征有关的重要基因是BRAT1(BRCA1相关ATM激活因子1)。
Related ID:
MALACARDS:LTH036
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
新生儿
<1/1000000
1
3
23
LTH036
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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