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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, Houge Type (MRXSHG)
Alias:
Mental Retardation, X-Linked, Syndromic, Houge Type
Mrxshg
Intellectual Developmental Disorder, X-Linked Syndromic, Houge Type
Intellectual Disability, X-Linked, Syndromic, Houge 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,综合征型,霍奇型,也被称为精神发育迟滞,X连锁,综合征型,霍奇型。与智力发育障碍,X连锁,综合征型,霍奇型有关的重要基因是CNKSR2(连接激酶抑制Ras抑制因子2)。相关表型包括语言和语言发展延迟以及注意力缺陷多动障碍。
Related ID:
MALACARDS:INT444
OMIM:301008
MESH:D008607
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
X显
X染色体
X隐
未知
--
1
5
7
INT444
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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