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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 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:
MALACARDS:INT571
OMIM:615032
MESH:D001321
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
未知
--
1
18
17
INT571
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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