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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
Marcus Gunn Phenomenon
Alias:
Jaw-Winking Syndrome
Marcus-Gunn Syndrome
Mandibulo-Palpebral Synkinesis-Ptosis Syndrome
Marcus-Gunn Phenomenon
Abnormal Innervation Syndrome of Eyelid
Pterygoid-Levator Synkinesis
Maxillopalpebral Synkinesis
Jaw-Blinking
Jaw-Winking
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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
马古斯·冈恩现象,又称下颌眨眼综合症,与下斜视和内斜视有关,症状包括反射性、异常的、眼睑收缩或滞后和眼肌麻痹。与马古斯·冈恩现象有关的重要基因是ZFHX4(锌指同源盒4)。附属组织包括眼睛和心脏,相关表型为马古斯·冈恩下颌眨眼同步和斜视。
Related ID:
MALACARDS:MRC002
OMIM:154600
MESH:C535908
ICD11:590216180
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
新生儿
--
7
54
3
MRC002
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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