Oliver Syndrome

Alias:
Postaxial Polydactyly-Intellectual Disability Syndrome
Postaxial Polydactyly and Mental Retardation
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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
奥利弗综合症,又称后轴性多指-智力障碍综合症,与亚当斯-奥利弗综合症和亚当斯-奥利弗综合症5有关。奥利弗综合症的一个重要相关基因是DDX59(DEAD-Box Helicase 59)。相关组织包括骨和皮肤,相关表型为后轴性手多指和智力障碍,严重程度不一。

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
新生儿
<1/1000000
1
3
2

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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