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GTR Home > Conditions/Phenotypes > Developmental and epileptic encephalopathy, 33

Developmental and epileptic encephalopathy, 33

Synonyms
Epileptic encephalopathy, early infantile, 33

Summary

Developmental and epileptic encephalopathy-33 (DEE33) is a neurologic disorder characterized by the onset of various types of seizures in the first months of life. Affected individuals show severe global developmental delay with impaired intellectual development and poor or absent speech (summary by de Ligt et al., 2012). For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350. [from OMIM]

Available tests

24 tests are in the database for this condition.

Clinical tests (24 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: DEE33, EEF1AL, EF-1-alpha-2, EF1A, EIEE33, HS1, MRD38, STN, STNL, EEF1A2
    Summary: eukaryotic translation elongation factor 1 alpha 2

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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