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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
You-Hoover-Fong Syndrome (YHFS)
Alias:
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder
Yhfs
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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
You-Hoover-Fong 综合症,又名 telo2 相关的智力障碍 - 神经发育障碍,与孤立的先天性小头畸形和腭裂有关。与 You-Hoover-Fong 综合症相关的重要基因是 TELO2(端粒维持 2)。附属组织包括眼睛和心脏,相关表型为异常面部形状和智力障碍,严重程度不一。
Related ID:
MALACARDS:YHV001
OMIM:616954
MESH:D000015
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
新生儿
<1/1000000
1
4
1
YHV001
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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