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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 Ataxia, Hypotonia, and Microcephaly (NEDAHM)
Alias:
Nedahm
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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
神经发育障碍伴共济失调、肌张力低下和小头畸形,也称为nedahm。与神经发育障碍伴共济失调、肌张力低下和小头畸形有关的重要基因是SVBP(小血管抑制蛋白结合蛋白)。相关组织包括皮肤和大脑,相关表型为智力障碍和语言发育延迟。
Related ID:
MALACARDS:NRD076
OMIM:618569
MESH:D065886
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
未知
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2
NRD076
Medical Symptom
#
Categorization
Description
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Orphanet Frequency
HPO Source Accession
No data available
Gene & Mutation
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Mutations
No data available
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Name
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No data available
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Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available
References Literature
Title
PMID
Journal
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IF
No Data Found!
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