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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

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