Microcephaly, Short Stature, and Polymicrogyria with or Without Seizures (MSSP)

Alias:
Polymicrogyria with Seizures
Microcephaly, Short Stature, and Polymicrogyria with Seizures
Pmgys
Mssp
Microcephalic Cortical Malformations-Short Stature Due to Rttn Deficiency
Microcephalic Primordial Dwarfism Due to Rttn Deficiency
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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、身材矮小和伴有或不伴有癫痫的多小脑回,也称为伴有癫痫的多小脑回,与2型和3型非克汀性先天性甲状腺功能减退症有关,症状包括癫痫发作。与小头畸形、身材矮小和伴有或不伴有癫痫的多小脑回有关的重要基因是RTTN(旋转蛋白)。相关组织包括大脑和脑桥,相关表型为面部异常和小头畸形。
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
5

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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