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GTR Home > Conditions/Phenotypes > Glycosylphosphatidylinositol biosynthesis defect 17

Glycosylphosphatidylinositol biosynthesis defect 17

Summary

Glycosylphosphatidylinositol biosynthesis defect-17 (GPIBD17) is an autosomal recessive disorder characterized by variable neurologic deficits that become apparent in infancy or early childhood. Patients may present with early-onset febrile or afebrile seizures that tend to be mild or controllable. Other features may include learning disabilities, autism, behavioral abnormalities, hypotonia, and motor deficits. The phenotype is relatively mild compared to that of other GPIBDs (summary by Nguyen et al., 2018). For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (610293). [from OMIM]

Available tests

4 tests are in the database for this condition.

Clinical tests (4 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: GPI-H, PIGH
    Summary: phosphatidylinositol glycan anchor biosynthesis class H

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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