Arthrogryposis Multiplex Congenita 4, Neurogenic, with Agenesis of the Corpus Callosum (AMC4)

Alias:
Arthrogryposis Multiplex Congenita, Neurogenic, with Agenesis of the Corpus Callosum
Zain Syndrome
Amcnacc
Amc4
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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
先天性多关节挛缩症4型,神经源性,伴有胼胝体发育不全,也称为先天性多关节挛缩症,神经源性,伴有胼胝体发育不全,与先天性多关节挛缩症4有关。与先天性多关节挛缩症4,神经源性,伴有胼胝体发育不全相关的基因是SCYL2(SCY1类似假激酶2)。相关表型为癫痫和痉挛。
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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
5
2

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
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IF
No Data Found!
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