Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Sy

Alias:
Ectodermal Dysplasia, Berlin Type
Berlin 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
白化黑毛症-婴儿期-智力障碍-先天性缺牙-先天性稀毛症综合症,也称为外胚层发育不良,柏林型,与白化黑毛症、婴儿期、智力障碍、先天性缺牙、先天性稀毛症有关。
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
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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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