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GENATLAS PHENOTYPE

last update : 17-09-2019

Symbol	GPIBD15
Location	8q24.3
Name	glycosylphosphatidylinositol biosynthesis defect 15
Corresponding gene	GPAA1
Main clinical features	delayed psychomotor development, variable intellectual disability, hypotonia, early-onset seizures in most patients, and cerebellar atrophy, resulting in cerebellar signs including gait ataxia and dysarthria brain imaging showed cerebellar atrophy or hypoplasia, which was progressive in some patients.
Genetic determination	autosomal dominant
Function/system disorder	metabolism/carbohydrates
Type	disease

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