Cerebellar Dysfunction with Variable Cognitive and Behavioral Abnormalities (CECBA)

Alias:
Cerebellar Ataxia, Nonprogressive, with Mental Retardation
Nonprogressive Cerebellar Ataxia with Mental Retardation
Canpmr
Cecba
Ataxia, Cerebellar, Nonprogressive, with Mental Retardation
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Cerebellar Dysfunction with Variable Cognitive and Behavioral Abnormalities, also known as cerebellar ataxia, nonprogressive, with mental retardation, is related to brain malformations with or without urinary tract defects and cerebellar ataxia, mental retardation and dysequlibrium syndrome, and has symptoms including ataxia An important gene associated with Cerebellar Dysfunction with Variable Cognitive and Behavioral Abnormalities is CAMTA1 (Calmodulin Binding Transcription Activator 1), and among its related pathways/superpathways are Neurogenesis regulation in the olfactory epithelium and Reelin signaling pathway. Affiliated tissues include brain, and related phenotypes are cerebellar hypoplasia and global developmental delay
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Newborn
--
10
53
6

Medical Symptom

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Gene & Mutation

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References Literature

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