Log In|Sign Up
中文Aicardi Syndrome (AIC)
Alias:
Agenesis of Corpus Callosum with Chorioretinal Abnormality
Aicardi's Syndrome
Agenesis of Corpus Callosum with Infantile Spasms and Ocular Abnormalities
Corpus Callosum, Agenesis of, with Chorioretinal Abnormality
Callosal Agenesis and Ocular Abnormalities
Chorioretinal Anomalies with Acc
Aic
Favorite
艾卡迪综合症，又名无胼胝体伴视网膜异常，与多小脑回和韦斯特综合症有关，症状包括癫痫发作。与艾卡迪综合症相关的重要基因是ARX（Aristaless相关同源盒），其相关通路/超级通路包括导致雷特综合症和德雷夫特综合症的基因。附属组织包括大脑和眼睛，相关表型包括视网膜色素异常和智力障碍，严重程度不一。
Related ID：
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
Medical Symptom
#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
Gene & Mutation
#
Gene
Function
Score
Mutations
Related Drugs
Name
CAS Number
Status
Phase
Disease Model
Category
Name
MGI
Related Gene
Strain of Origin
Publications
References Literature
Title
PMID
Journal
Year
IF
