Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2 (DMJDS2)

Alias:
Spastic Tetraparesis, Dystonia, Developmental Delay, and Structural Abnormalities of the Basal Ganglia
Dmjds2
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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
中脑-间脑联合发育不良2,也被称为痉挛性四肢瘫痪、肌张力障碍、发育迟缓和基底节结构异常。与中脑-间脑联合发育不良2相关的基因是GSX2(GS同源盒2)。相关组织包括嗅球和丘脑,相关表型包括婴儿喂养困难和痉挛性四肢瘫痪。
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
未知
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1
6
5

Medical Symptom

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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

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CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
Journal
Year
IF
No Data Found!
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