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GENATLAS PHENOTYPE
last update : 03-01-2017
Symbol FDFM
Location 3q21.1
Name familial dyskinesia and facial myokymia
Corresponding gene ADCY5
Main clinical features
  • adventitious movements that sometimes appeared to be choreiform and were associated with perioral and periorbital myokymia
  • dyskinetic episodes are initially paroxysmal but may become constant but with increasing age they may lessen or even disappear
  • Genetic determination autosomal dominant
    Function/system disorder neurology
    Type disease
    Remark(s)