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GENATLAS PHENOTYPE
last update : 06-06-2019
Symbol SCAMRP
Location 10p15.2
Name mental retardation, spinocerebellar ataxia, and psychosis
Other name(s) Spinocerebellar ataxia, autosomal recessive 30
Corresponding gene PITRM1
Other symbol(s) SCAR30
Main clinical features
  • child with mild mental retardation and later developed gradual spinocerebellar ataxia (SCA), obsessional behaviour with psychotic episodes and hallucinations
  • combining impaired motor coordination, cognitive and psychotic features
  • . brain MRI showed cerebellar atrophy
    Genetic determination autosomal recessive
    Function/system disorder neurology
    mental retardation
    psychiatry disorder
    Type disease
    Remark(s)