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GENATLAS PHENOTYPE
last update : 05-11-2014
Symbol BGCI5
Location 22q13.1
Name idiopathic basal ganglia calcification-5
Corresponding gene PDGFB
Other symbol(s) IBGC5
Main clinical features
  • progressive neurologic symptoms associated with brain calcifications mainly affecting the basal ganglia; calcifications may also occur in the thalamus, cerebellum, or white matter
  • motor symptoms, such as dyskinesias or parkinsonism, headache, cognitive impairment, and psychiatric manifestations, including apathy and depression but some patients are asymptomatic; age at symptom onset ranges from late childhood to adulthood; the disorder is progressive
  • Genetic determination autosomal dominant
    Function/system disorder neurology
    Type disease
    Remark(s)