Disease

Dysequilibrium Syndrome

About the Disease
Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1, also known as dysequilibrium syndrome, is related to cerebellar dysfunction with variable cognitive and behavioral abnormalities and cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, and has symptoms including cerebellar ataxia, action tremor and dysdiadochokinesis. An important gene associated with Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1 is VLDLR (Very Low Density Lipoprotein Receptor), and among its related pathways/superpathways are Transport of inorganic cations/anions and amino acids/oligopeptides and Cardiac conduction. Affiliated tissues include cerebellum, brain and skeletal muscle, and related phenotypes are intellectual disability and hyperreflexia

Common Targets
ATP8A2 | VLDLR

疾病靶点研报
Dysequilibrium Syndrome

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