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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 85 (DEE85)
Alias:
Early Infantile Epileptic Encephalopathy 85
Dee85
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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85,也称为婴儿早期癫痫性脑病85,与发育性和癫痫性脑病85有关,伴有或不伴有中线脑缺陷和发育性和癫痫性脑病。发育性和癫痫性脑病85相关的重要基因是SMC1A(染色体结构维持1A)。
Related ID:
MALACARDS:DVL156
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
4
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DVL156
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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