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References OMIM Gene GeneReviews HGMD HGNC
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