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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
Rolandic Epilepsy-Speech Dyspraxia 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
Rolandic癫痫-言语失用症与儿童电临床综合征和言语障碍有关。与Rolandic癫痫-言语失用症有关的重要基因是GRIN2A(谷氨酸离子型NMDA受体亚单位2A)。相关表型为癫痫发作和言语语言发育延迟。
Related ID:
MALACARDS:RLN004
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
X隐
常显
X染色体
未知
--
2
18
--
RLN004
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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