Neurodevelopmental Disorder with or Without Hyperkinetic Movements and Seizures, Autosomal Recessive (NDHMSR)

Alias:
Ndhmsr
Neurodevelopmental Disorder with Hyperkinetic Movements with or Without Seizures, Autosomal Recessive
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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
神经发育障碍伴或不伴过度运动和癫痫,常染色体隐性,也称为ndhmsr。与神经发育障碍伴或不伴过度运动和癫痫,常染色体隐性有关的重要基因是GRIN1(谷氨酸离子型受体NMDA亚单位1)。相关组织包括眼睛,相关表型为痉挛和前额突出。
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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
29
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
Year
IF
No Data Found!
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