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COL4A5 c.1390G>A
ALS1
DMD c.1332-11868C>G
TP53
肌萎缩侧索硬化症1型
USH2A c.8559-2A>G
囊性纤维化
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中文
非罕见病
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。
Related ID:
MALACARDS:ART166
OMIM:618766
MESH:D001176
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
ART166
Medical Symptom
#
Categorization
Description
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Orphanet Frequency
HPO Source Accession
No data available
Gene & Mutation
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No data available
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Name
CAS Number
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No data available
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Category
Name
MGI
Related Gene
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No data available
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No Data Found!
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