Kdm3b-Related Intellectual Disability-Facial Dysmorphism-Short Stature Syndrome

Alias:
Diets-Jongmans 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
Kdm3b相关智力障碍-面部畸形-矮小症,也称为迪茨-琼曼斯综合征,与迪茨-琼曼斯综合征和挛缩、翼状胬肉和脊柱-掌跖-踝关节融合综合征1a有关。与Kdm3b相关智力障碍-面部畸形-矮小症有关的重要基因是KDM3B(赖氨酸去甲基化酶3B)。
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
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1
9
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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
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Score
Mutations
No data available

Related Drugs

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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
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No Data Found!
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