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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 16, Primary, Autosomal Recessive (MCPH16)
Alias:
Mcph16
Primary Autosomal Recessive Microcephaly 16
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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16型,常染色体隐性,也称为mcph16,与小头畸形19型,常染色体隐性,和小头畸形2型,常染色体隐性,伴有或不伴有皮质畸形有关。与小头畸形16型,常染色体隐性相关的重要的基因是ANKLE2(Ankyrin Repeat And LEM Domain Containing 2)。相关组织包括皮质和大脑,相关表型包括痉挛和胼胝体发育不全。
Related ID:
MALACARDS:MCR314
OMIM:616681
MESH:D008831
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
未知
--
10
65
4
MCR314
Medical Symptom
#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available
Gene & Mutation
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Gene
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No data available
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Name
CAS Number
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Phase
No data available
Disease Model
Category
Name
MGI
Related Gene
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Publications
No data available
References Literature
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No Data Found!
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