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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
罕见病
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:
MALACARDS:GND017
OMIM:615074
MESH:D008607
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
未知
<1/1000000
5
27
7
GND017
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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