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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
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type (MRXSB)
Alias:
Mental Retardation, X-Linked, Syndromic, Bain Type
Mrxsb
Intellectual Developmental Disorder, X-Linked Syndromic, Bain Type
Intellectual Disability, X-Linked, Syndromic, Bain Type
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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
智力发育障碍,X连锁,伴有综合征的,贝恩型,也被称为精神发育迟滞,X连锁,伴有综合征的,贝恩型,与X连锁伴有综合征智力障碍的贝恩型和HNRNPH2相关的神经发育障碍有关。与智力发育障碍,X连锁,伴有综合征,贝恩型有关的重要基因是HNRNPH2(异质核糖核蛋白H2)。相关表型是智力障碍和肌张力低下
Related ID:
MALACARDS:INT441
OMIM:300986
MESH:D038901
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
X染色体
X隐
未知
--
3
10
8
INT441
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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