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COL4A5 c.1390G>A
ALS1
DMD c.1332-11868C>G
TP53
肌萎缩侧索硬化症1型
USH2A c.8559-2A>G
囊性纤维化
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中文
非罕见病
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:
MALACARDS:INT328
OMIM:618089
MESH:D065886
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
未知
--
2
14
6
INT328
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
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Name
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Phase
No data available
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Category
Name
MGI
Related Gene
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Publications
No data available
References Literature
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IF
No Data Found!
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