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GTR Home > Conditions/Phenotypes > Developmental and epileptic encephalopathy, 66

Developmental and epileptic encephalopathy, 66

Synonyms
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 66

Summary

Developmental and epileptic encephalopathy-66 (DEE66) is a neurologic disorder characterized by the onset of various types of seizures in the first days or weeks of life. Most seizures have focal origins; secondary generalization is common. Seizure control is difficult at first, but may become easier with time. Affected individuals show global developmental delay with hypotonia, behavioral abnormalities, and dysmorphic features or ophthalmologic defects. Brain imaging often shows cerebellar dysgenesis. A subset of patients have extraneurologic manifestations, including hematologic and distal limb abnormalities (summary by Olson et al., 2018). For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350. [from OMIM]

Available tests

11 tests are in the database for this condition.

Clinical tests (11 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: DEE66, EIEE66, PACS-2, PACS1L, PACS2
    Summary: phosphofurin acidic cluster sorting protein 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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