Blepharophimosis-Intellectual Disability Syndrome (BMRS)

Alias:
Bmrs
Blepharophimosis - Intellectual Disability Syndrome
Blepharophimosis Intellectual Disability Syndromes
Blepharophimosis Syndrome Ohdo Type
Young Simpson Syndrome
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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
眼睑下垂-智力障碍综合征,也称为bmrs,与ohdo综合征、sbbys变种和眼睑下垂、面部和生殖器异常以及智力发育障碍有关,其症状包括癫痫发作。与眼睑下垂-智力障碍综合征有关的重要基因是UBE3B(泛素蛋白连接酶E3B)。附属组织包括眼睛和甲状腺。
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
<1/1000000
2
11
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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