Microcephaly-Micromelia Syndrome (MIMIS)

Alias:
Mimis
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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-小身材综合症,也称为MIMIS,与小头畸形和小头畸形、身材矮小和肢体异常有关。与小头-小身材综合症有关的重要基因是DONSON(DNA复制叉稳定因子DONSON)。附属组织包括骨和脑,相关表型为小头畸形和短颈
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
胎儿期
<1/1000000
1
4
3

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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