Kinsship Syndrome (KINS)

Alias:
Kins
Mesomelic Dysplasia, Steichen-Gersdorf Type
Mesomelic Dysplasia, Aff3-Related
Mesomelic Dysplasia-Digital Anomalies-Intellectual Disability Syndrome
Steichen-Gersdorf Type Mesomelic Dysplasia
Aff3-Related Mesomelic Dysplasia
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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
亲缘关系综合症,也称为亲缘关系,与白内障11、多型和智力发育障碍,X连锁109有关。与亲缘关系综合症有关的重要基因是AFF3(ALF转录延伸因子3)。附属组织包括肾脏和骨骼,相关表型为智力障碍和全球发育延迟
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
未知
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10
42
5

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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