Microcephaly and Chorioretinopathy, Autosomal Recessive, 3 (MCCRP3)

Alias:
Mccrp3
Microcephaly and Chorioretinopathy, Autosomal Recessive, Type 3
Microcephaly and Chorioretinopathy 3
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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
小头畸形和视网膜色素变性3,也称为mccrp3,与小头畸形3和小头畸形有关。与小头畸形和视网膜色素变性3相关的基因是TUBGCP4(微管γ复合体成分4),其相关通路/超通路包括细胞周期、有丝分裂。相关组织包括视网膜,相关表型为异常面部形状和眼震。
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
未知
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2
19
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
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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