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GTR Home > Conditions/Phenotypes > Developmental and epileptic encephalopathy, 55

Developmental and epileptic encephalopathy, 55

Synonyms
Early infantile epileptic encephalopathy 55; GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 14

Summary

Developmental and epileptic encephalopathy-55 (DEE55) is an autosomal recessive neurologic disorder characterized by onset of refractory seizures in the first weeks or months of life. Affected individuals have an extremely poor outcome, with profoundly impaired intellectual development, absent speech, spastic quadriplegia, and dyskinetic movements. Most have cortical visual impairment and require a feeding tube. Brain imaging shows nonspecific abnormalities, including cerebral atrophy, thin corpus callosum, and abnormal signals in the white matter. Death in childhood may occur. Biochemically, the disorder is associated with impaired synthesis of GPI-anchored proteins (summary by Vetro et al., 2020). For a general phenotypic description and 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

13 tests are in the database for this condition.

Clinical tests (13 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: DCRC, DCRC-S, DEE55, DSCR5, DSRC, EIEE55, PIG-P, PIGP
    Summary: phosphatidylinositol glycan anchor biosynthesis class P

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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