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GENATLAS PHENOTYPE
last update : 28-06-2022
Symbol SCAR33
Location 17p12
Name Spinocerebellar ataxia, autosomal recessive 33
Corresponding gene TTC19
Main clinical features
  • progressive cerebellar ataxia associated with dysarthria, oculomotor abnormalities, and mental impairment
  • MRI showed cerebellar atrophy
  • Genetic determination autosomal recessive
    Function/system disorder neurology
    Type disease
    Remark(s)