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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
Speech and Communication Disorders
Alias:
Language Disorder
Communication Disorder
Language Disorders
Communication Disorders
Speech and Language Disorder
Speech Language Disorder
Speech-Language Disorder
Communication Impairment
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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
言语和沟通障碍,也被称为语言障碍,与表达性语言障碍和失认症有关,症状包括嗜睡、神经行为表现和无表情。与言语和沟通障碍有关的重要基因是OTUD7A(OTU去泛素化酶7A),其相关通路/超级通路包括神经科学和脆弱X综合症。在该障碍的背景下提到了泼尼松和泼尼松酸。附属组织包括大脑和眼睛,相关表型是神经系统和生长/大小/身体区域。
Related ID:
MALACARDS:SPC010
MESH:D003147
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
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67
1040
3
SPC010
Medical Symptom
#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available
Gene & Mutation
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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
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Journal
Year
IF
No Data Found!
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