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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 84 (DEE84)
Alias:
Jamuar Syndrome
Dee84
Developmental and Epileptic Encephalopathy, 84
Eiee84
Encephalopathy, Epileptic, Early Infantile, Type 84
Epileptic Encephalopathy, Early Infantile, 84
Epileptic Encephalopathy, Early Ifantile, 84
Early Infantile Epileptic Encephalopathy 84
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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84,也称为贾马尔综合症,与脊髓小脑共济失调、常染色体隐性12和发育性和癫痫性脑病有关。与发育性和癫痫性脑病84有关的重要基因是UGDH(UDP-葡萄糖6脱氢酶)。附属组织包括脑和眼,相关表型为癫痫发作和坐立延迟。
Related ID:
MALACARDS:DVL107
OMIM:618792
MESH:D013036
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
未知
--
7
40
1
DVL107
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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