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COL4A5 c.1390G>A
ALS1
DMD c.1332-11868C>G
TP53
肌萎缩侧索硬化症1型
USH2A c.8559-2A>G
囊性纤维化
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中文
罕见病
Microcephaly, Postnatal Progressive, with Seizures and Brain Atrophy (MCPHSBA)
Alias:
Infantile Cerebral and Cerebellar Atrophy with Postnatal Progressive Microcephaly
Infantile Cerebral and Cerebellar Atrophy with Postnatal Progressive Microcephal
Postnatal Progressive Microcephaly, Seizures, and Brain Atrophy
Mcphsba
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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
小头症,后天性进行性,伴有癫痫和脑萎缩,也被称为婴儿期脑和小脑萎缩,后天性进行性小头症。与小头症,后天性进行性,伴有癫痫和脑萎缩相关的基因是MED17(中介复合物亚基17)。相关组织包括大脑,相关表型为癫痫和痉挛。
Related ID:
MALACARDS:MCR123
OMIM:613668
MESH:D008831
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
婴儿期
<1/1000000
1
4
1
MCR123
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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