Cortical Malformations, Occipital (OCCM)

Alias:
Occipital Pachygyria and Polymicrogyria
Occm
Occipital Malformations of Cortical Development
Cortical Malformations Occipital
Occipital Mcd
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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
皮质畸形,枕部,又称枕部厚皮症和多微小脑回,与牙周病有关,症状包括无抽搐发作。与皮质畸形,枕部相关的重要基因是LAMC3(层粘连蛋白亚基γ3)。附属组织包括大脑和骨骼,相关表型为多微小脑回和厚皮症。
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
新生儿
<1/1000000
1
4
1

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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