Gand Syndrome (GAND)

Alias:
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Mrd18
Mental Retardation, Autosomal Dominant 18
Gand
Autosomal Dominant Non-Syndromic Intellectual Disability 18
Autosomal Dominant Intellectual Developmental Disorder 18
Autosomal Dominant Mental Retardation 18
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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
甘德综合症,又称严重智力障碍-语言差-斜视-鬼脸-长指综合症,与严重智力障碍-语言差-斜视-鬼脸-长指和肌张力低下有关。与甘德综合症有关的重要基因是GATAD2B(GATA锌指域包含2B)。附属组织包括脑和眼,相关表型为全球发育延迟和智力障碍,严重
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
未知
<1/1000000
5
27
7

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

Title
PMID
Journal
Year
IF
No Data Found!
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信息比对
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