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GENATLAS PHENOTYPE
last update : 17-10-2016
Symbol SCAR11
Location 1q32.2
Name spinocerebellar ataxia, autosomal recessive 11
Corresponding gene SYT14
Main clinical features
  • spinocerebellar ataxia associated with psychomotor retardation
  • progressive gait disorder, followed by dysarthria, limb ataxia, truncal ataxia, disturbance of smooth eye movements and nystagmus
  • brain MRI showed mild atrophy of the cerebellar vermis and hemispheres
  • Genetic determination autosomal recessive
    Function/system disorder neuromuscular
    mental retardation
    Type disease
    Remark(s)