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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
Neurodevelopmental Disorder with Microcephaly, Hypotonia, Nystagmus, and Seizures (NEDMHS)
Alias:
Nedmhs
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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
神经发育障碍伴小头、肌张力减退、眼震和癫痫,也称为nedmhs。与神经发育障碍伴小头、肌张力减退、眼震和癫痫相关的基因是CPSF3(切割和多腺苷酸化特异性因子3)。相关组织包括大脑,相关表型包括智力障碍和癫痫。
Related ID:
MALACARDS:NRD157
OMIM:619876
MESH:D065886
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
未知
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1
3
1
NRD157
Medical Symptom
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Categorization
Description
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Orphanet Frequency
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No data available
Gene & Mutation
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No data available
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No data available
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Category
Name
MGI
Related Gene
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Publications
No data available
References Literature
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IF
No Data Found!
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