Neurodevelopmental Disorder with Microcephaly, Movement Abnormalities, and Seizures (NEDMIMS)

Alias:
Nedmims
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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畸形、运动异常和癫痫,也称为nedmims。与神经发育障碍伴小头畸形、运动异常和癫痫有关的重要基因是CHKA(胆碱酸激酶)。相关组织包括大脑,相关表型为高反射性和小头畸形。
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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
4
1

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
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No data available

Disease Model

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

References Literature

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PMID
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IF
No Data Found!
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