Intellectual Developmental Disorder with Dysmorphic Facies and Behavioral Abnormalities (IDDFBA)

Alias:
Iddfba
Intellectual Developmental Disorder, Dysmorphic Facies, Behavioral Abnormalities
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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
智力发育障碍伴发育不良面容和行为异常,也称为iddfba,与林奇综合症有关。与智力发育障碍伴发育不良面容和行为异常有关的重要基因是FBXO11(F-Box蛋白11)。相关组织包括眼睛,相关表型包括语言和言语发育延迟以及反复感染
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
未知
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2
14
6

Medical Symptom

#
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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