Branchiogenic-Deafness Syndrome

Alias:
Branchiogenic Deafness Syndrome
Branchiogenic Hearing Loss Syndrome
Megarbane-Loiselet Syndrome
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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
鳃源性聋哑综合症,又名鳃源性聋哑综合症,与斜视和学习障碍有关。与鳃源性聋哑综合症有关的重要基因是EYA1(EYA转录激活因子和磷酸酶1)。附属组织包括眼睛和皮肤,相关表型为感觉神经性听力障碍和身材矮小。

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
胎儿期
<1/1000000
1
11
1

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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