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GTR Home > Conditions/Phenotypes > Developmental and epileptic encephalopathy, 80

Developmental and epileptic encephalopathy, 80

Synonyms
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 80; GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 20

Summary

Developmental and epileptic encephalopathy-80 (DEE80) is an autosomal recessive neurologic disorder characterized by the onset of refractory seizures in the first year of life. Patients have severe global developmental delay and may have additional variable features, including dysmorphic or coarse facial features, distal skeletal abnormalities, and impaired hearing or vision. At the cellular level, the disorder is caused by a defect in the synthesis of glycosylphosphatidylinositol (GPI), and thus affects the expression of GPI-anchored proteins at the cell surface (summary by Murakami et al., 2019). For a discussion of genetic heterogeneity of DEE, see 308350. 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.

Clinical tests (9 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: DEE80, EIEE80, GPI-MT-III, PIG-B, PIGB
    Summary: phosphatidylinositol glycan anchor biosynthesis class B

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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