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GTR Home > Conditions/Phenotypes > Developmental and epileptic encephalopathy, 90

Developmental and epileptic encephalopathy, 90

Summary

Developmental and epileptic encephalopathy-90 (DEE90) is an X-linked neurologic disorder characterized by onset of refractory seizures in the first days or months of life. Although most patients have focal seizures associated with oromotor automatisms and apnea, various seizure types may occur, including epileptic spasms, generalized tonic-clonic, and absence. EEG shows multifocal discharges; hypsarrhythmia, intermittent burst suppression, and slow spike-wave background resembling Lennox-Gastaut syndrome may also be observed. Affected individuals have global developmental delay with variable severity, but it is usually profound or severe. Some are unable to walk or speak, whereas others may achieve some milestones and show autistic features (summary by Fry et al., 2021). For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350. [from OMIM]

Available tests

1 test is in the database for this condition.

Clinical tests (1 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: DEE90, FGF-13, FGF2, FHF-2, FHF2, LINC00889, XLID110, FGF13
    Summary: fibroblast growth factor 13

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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