Aicardi Syndrome (AIC)

Aicardi Syndrome(来自ICD-11)
别称:
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
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Aicardi Syndrome, also known as agenesis of corpus callosum with chorioretinal abnormality, is related to polymicrogyria and west syndrome, and has symptoms including seizures An important gene associated with Aicardi Syndrome is ARX (Aristaless Related Homeobox), and among its related pathways/superpathways are Rett syndrome causing genes and Dravet syndrome. Affiliated tissues include brain and eye, and related phenotypes are abnormality of retinal pigmentation and intellectual disability, severe
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基础信息

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参考文献
MALACARDS
XL
XLR
Newborn
1-9/1000000
25
205
57

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