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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
Cataract, Ataxia, Short Stature, and Impaired Intellectual Development
Alias:
Cataracts, Ataxia, Short Stature, and Mental Retardation
Cataract, Ataxia, Short Stature, and Mental Retardation
Casm 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
白内障、共济失调、身材矮小和智力发育障碍,也被称为白内障、共济失调、身材矮小和智力障碍,其症状包括共济失调、小脑共济失调和肌肉无力。相关表型为智力障碍和共济失调。
Related ID:
MALACARDS:CTR191
OMIM:300619
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
X染色体
X显
未知
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1
CTR191
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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