Intellectual Developmental Disorder with Autism and Macrocephaly (IDDAM)

Alias:
Iddam
Autism, Susceptibility to, 18, Formerly
Autism 18, Formerly
Auts18, Formerly
Autism 18
Auts18
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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
智力发育障碍伴自闭症和巨脑症,也被称为iddam。与智力发育障碍伴自闭症和巨脑症有关的重要基因是CHD8(染色体域螺旋酶DNA结合蛋白8)。相关表型为眼睑下垂和肌张力减退
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
未知
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1
18
17

Medical Symptom

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

Gene & Mutation

#
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

Title
PMID
Journal
Year
IF
No Data Found!
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