Home Page

References

OMIM

Gene

GeneReviews

HGMD

HGNC

GENATLAS PHENOTYPE

last update : 17-10-2017

Symbol	SCAR13
Location	6q24.3
Name	spinocerebellar ataxia, autosomal recessive 13
Corresponding gene	GRM1
Main clinical features	neurologic disorder characterized by delayed psychomotor development beginning in infancy, mild to profound mental retardation with poor or absent speech as well as gait and stance ataxia and hyperreflexia, also eye movement abnormalities dysarthria, mild dysdiadochokinesia, dysmetria and tremors, intellectual deficit, and mild pyramidal signs brain MRI shows cerebellar atrophy and ventriculomegaly
Genetic determination	autosomal recessive
Function/system disorder	neurology
Type	disease

Remark(s)