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GENATLAS PHENOTYPE
last update : 05-02-2018
Symbol COCH
Location 11q13.4
Name Childhood-Onset Chorea
Corresponding gene PDE2A
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Main clinical features
  • infantile-onset chorea-predominant movement disorder
  • early-onset fluctuating dyskinesia associated with chronic chorea; fluc-
    • tuating attacks of sudden falls, followed by dystonic postures and generalized choreic movements
  • associated with language difficulties, cognitive impairment
    • Genetic determination autosomal recessive
    Function/system disorder neurology
    Type disease
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    various types   abnormal protein/loss of function  
    Remark(s)