Cerebellar Ataxia, Mental Retardation and Dysequlibrium Syndrome (CAMRQ)

Alias:
Vldlr Cerebellar Hypoplasia
Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1
Cerebellar Ataxia, Mental Retardation, Dysequilibrium Syndrome 1
Uner Tan Syndrome
Camrq1
Camrq
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Cerebellar Ataxia, Mental Retardation and Dysequlibrium Syndrome, also known as vldlr cerebellar hypoplasia, is related to cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1 and cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 2. An important gene associated with Cerebellar Ataxia, Mental Retardation and Dysequlibrium Syndrome is ATP8A2 (ATPase Phospholipid Transporting 8A2), and among its related pathways/superpathways are Transport of inorganic cations/anions and amino acids/oligopeptides and Cardiac conduction. Affiliated tissues include brain, and related phenotypes are growth/size/body region and vision/eye
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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Unknown
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15
70
20

Medical Symptom

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Gene & Mutation

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Disease Model

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References Literature

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