Acromelic Frontonasal Dysostosis (AFND)

Alias:
Afnd
Acromelic Frontonasal Dysplasia
Toriello Syndrome
Frontonasal Dysplasia Acromelic
Dysostosis, Acromelic Frontonasal
Sweet 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
先天性额鼻发育不全,又称afnd,与额鼻发育不全1和卡普尔-托里埃洛综合征有关,症状包括癫痫发作。与先天性额鼻发育不全相关的基因是ZSWIM6(锌指SWIM型含6)。相关组织包括大脑和骨骼,相关表型为智力障碍和大脑半球胼胝体缺失。
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
胎儿期
<1/1000000
13
61
13

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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