Autosomal Recessive Congenital Nystagmus

Alias:
Nystagmus, Congenital Motor, Autosomal Recessive
Autosomal Recessive Congenital Motor Nystagmus
Nystagmus, Congenital, Autosomal Recessive
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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
常染色体隐性先天性眼震,也称为眼震、先天性运动、常染色体隐性,与眼震8、先天性、常染色体隐性有关。与常染色体隐性先天性眼震有关的重要基因是ROBO1(Roundabout Guidance Receptor 1)。相关表型为眼震和先天性眼震
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
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1
9
1

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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