Microcephaly 7, Primary, Autosomal Recessive (MCPH7)

Alias:
Mcph7
Microcephaly, Primary Autosomal Recessive, 7
Primary Autosomal Recessive Microcephaly 7
Microcephaly, Type 7, 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
小头畸形7型,常染色体隐性遗传,也称为mcph7,与依赖性人格障碍和歇斯底里人格障碍有关。与小头畸形7型,常染色体隐性遗传相关的基因是STIL(STIL中心粒装配蛋白),其相关通路/超通路包括信号转导和ESR介导的信号通路。相关组织包括皮质和大脑,相关表型为智力障碍和全球发育延迟。
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
未知
--
18
100
5

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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