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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
Wolff Mental Retardation Syndrome
Alias:
Intellectual Disability, Wolff Type
Mental Retardation Wolff Type
Wolff-Zimmermann 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
沃尔夫精神发育迟滞综合症,也被称为智力障碍,沃尔夫型。与沃尔夫精神发育迟滞综合症相关的重要基因是 ATP7B(铜转运ATP酶β)。相关表型包括延迟的骨骼成熟和额间距增宽。
Related ID:
MALACARDS:WLF012
OMIM:277990
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
新生儿
<1/1000000
1
8
1
WLF012
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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