Developmental Delay with Dysmorphic Facies and Dental Anomalies (DEFDA)

Alias:
Defda
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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
发育延迟伴发育畸形和牙齿异常,也称为defda。与发育延迟伴发育畸形和牙齿异常有关的重要基因是SATB1(SATB框1)。相关组织包括大脑,相关表型为全球发育延迟和运动延迟。
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
未知
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1
13
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

Name
CAS Number
Status
Phase
No data available

Disease Model

Category
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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