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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
Lissencephaly 2 (LIS2)
Alias:
Norman-Roberts Syndrome
Lissencephaly Syndrome, Norman-Roberts Type
Lissencephaly with Cerebellar Hypoplasia
Cobblestone Lissencephaly
Lis2
Lch
Lissencephaly Type 2
Lissencephaly 3
Lissencephaly Syndrome Norman-Roberts Type
Norman-Roberts Lissencephaly Syndrome
Norman Roberts Lissencephaly Syndrome
Lissencephaly Syndrome Type 2
Lissencephaly, Cobblestone
Microlissencephaly Type a
Type Ii Lissencephaly
Lissencephaly, Type 2
Lis3
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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
Lissencephaly 2,又称诺曼-罗伯茨综合症,与Lissencephaly 3和肌营养不良-肌糖蛋白病A型有关,症状包括共济失调和癫痫发作。与Lissencephaly 2有关的重要基因是RELN(Reelin),其相关通路/超级通路包括细胞周期、有丝分裂和有丝分裂中心体中Nlp的丧失。相关组织包括大脑和皮层,相关表型包括智力障碍和宽眼距。
Related ID:
MALACARDS:LSS006
OMIM:257320
MESH:C537848
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
未知
1-9/100000
22
161
13
LSS006
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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