Developmental Delay with Short Stature, Dysmorphic Facial Features, and Sparse Hair 2 (DEDSSH2)

Alias:
Diphthamide Deficiency Syndrome 2
Dedssh2
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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
发育延迟伴短身高、畸形面部特征和稀疏头发2,也称为二硫氨素缺乏症2,与二硫氨素缺乏症有关。与发育延迟伴短身高、畸形面部特征和稀疏头发2相关的基因是DPH2(二硫氨素生物合成2)。相关组织包括睾丸,相关表型为全球发育延迟和短身高。
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
未知
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1
3
2

Medical Symptom

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

Gene & Mutation

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No data available

Related Drugs

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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
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No Data Found!
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