Microcephaly 3, Primary, Autosomal Recessive (MCPH3)

Alias:
Mcph3
Microcephaly, Primary Autosomal Recessive, 3
Primary Autosomal Recessive Microcephaly 3
Microcephaly, Type 3, 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
微小头畸形3型,常染色体隐性遗传,也称为mcph3,与微小头畸形和原发性小头畸形有关。与微小头畸形3型,常染色体隐性遗传有关的重要基因是CDK5RAP2(CDK5调节亚基相关蛋白2)。相关组织包括皮质和大脑,相关表型为全球发育延迟和牙齿间距广泛。
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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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4
23
11

Medical Symptom

#
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

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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