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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
非罕见病
Neurodevelopmental Disorder with Seizures, Hypotonia, and Brain Imaging Abnormalities (NEDSHBA)
Alias:
Nedshba
Neurodevelopmental Disorder with Seizures, Hypotonia, and Brain Abnormalities
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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
神经发育障碍伴有癫痫、肌张力低下和脑成像异常,也被称为nedshba。与神经发育障碍伴有癫痫、肌张力低下和脑成像异常有关的重要基因是GRM7(谷氨酸代谢型受体7)。相关组织包括大脑和垂体,相关表型包括智力障碍和癫痫。
Related ID:
MALACARDS:NRD105
OMIM:618922
MESH:D065886
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
未知
--
1
12
3
NRD105
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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