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GTR Home > Conditions/Phenotypes > Developmental and epileptic encephalopathy, 64

Developmental and epileptic encephalopathy, 64

Synonyms
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 64

Summary

Developmental and epileptic encephalopathy-64 (DEE64) is a neurodevelopmental disorder characterized by onset of seizures usually in the first year of life and associated with intellectual disability, poor motor development, and poor or absent speech. Additional features include hypotonia, abnormal movements, and nonspecific dysmorphic features. The severity is variable: some patients are unable to speak, walk, or interact with others as late as the teenage years, whereas others may have some comprehension (summary by Straub et al., 2018). For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350. [from OMIM]

Available tests

12 tests are in the database for this condition.

Clinical tests (12 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: DBC2, DEE64, EIEE64, p83, RHOBTB2
    Summary: Rho related BTB domain containing 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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