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GTR Home > Conditions/Phenotypes > Developmental and epileptic encephalopathy, 65

Developmental and epileptic encephalopathy, 65

Synonyms
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 65

Summary

Developmental and epileptic encephalopathy-65 (DEE65) is characterized by onset of intractable seizures of various types usually within the first months or years of life, severe to profound psychomotor developmental delay, and mild facial dysmorphism (summary by Nakashima et al., 2018). For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350. [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: DEE65, EIEE65, PIR121, CYFIP2
    Summary: cytoplasmic FMR1 interacting protein 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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