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。
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
新生儿
<1/1000000
1
4
1

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Gene
Function
Score
Mutations
No data available

Related Drugs

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CAS Number
Status
Phase
No data available

Disease Model

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Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
Journal
Year
IF
No Data Found!
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