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GTR Home > Conditions/Phenotypes > Glycosylphosphatidylinositol biosynthesis defect 15

Glycosylphosphatidylinositol biosynthesis defect 15

Synonyms
DEVELOPMENTAL DELAY, EPILEPSY, CEREBELLAR ATROPHY, AND OSTEOPENIA
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

GPIBD15 is an autosomal recessive disorder characterized by 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. The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis (summary by Nguyen et al., 2017). For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (610293). [from OMIM]

Available tests

9 tests are in the database for this condition.

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Clinical tests (9 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: GAA1, GPIBD15, hGAA1, GPAA1
    Summary: glycosylphosphatidylinositol anchor attachment 1

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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