Home Page
References OMIM Gene GeneReviews HGMD HGNC
GENATLAS PHENOTYPE
last update : 31-05-2017
Symbol CANPMR
Location 1p36.23
Name cerebellar ataxia, nonprogressive, with mental retardation
Corresponding gene CAMTA1
Main clinical features
  • nonprogressive cerebellar ataxia with mental retardation, characterized by mildly delayed psychomotor development, early onset of cerebellar ataxia, and intellectual disability later in childhood and adult life
  • other features may include neonatal hypotonia, dysarthria, and dysmetria; brain imaging in some patients shows cerebellar atrophy
  • Genetic determination autosomal dominant
    Function/system disorder neurology
    Type disease
    Remark(s)