Neurodegeneration, Childhood-Onset, with Brain Atrophy (CONDBA)

Alias:
Childhood-Onset Motor and Cognitive Regression Syndrome with Extrapyramidal Movement Disorder
Condba
Childhood-Onset Neurodegeneration with Brain Atrophy
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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
神经退行性疾病,儿童期发病,伴有脑萎缩,也称为儿童期运动和认知退化综合征伴有外周锥体运动障碍,与罕见的综合征性智力障碍有关。与神经退行性疾病,儿童期发病,伴有脑萎缩相关的基因是UBTF(上游结合转录因子)。相关组织包括大脑,相关表型为异常锥体征和失语症。
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
孩童期
<1/1000000
1
7
6

Medical Symptom

#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

#
Gene
Function
Score
Mutations
No data available

Related Drugs

Name
CAS Number
Status
Phase
No data available

Disease Model

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

References Literature

Title
PMID
Journal
Year
IF
No Data Found!
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