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GTR Home > Conditions/Phenotypes > Developmental and epileptic encephalopathy 100

Developmental and epileptic encephalopathy 100

Summary

Developmental and epileptic encephalopathy-100 (DEE100) is a severe neurologic disorder characterized by global developmental delay and onset of variable types of seizures in the first months or years of life. Most patients have refractory seizures and show developmental regression after seizure onset. Affected individuals have ataxic gait or inability to walk and severe to profoundly impaired intellectual development, often with absent speech. Additional more variable features may include axial hypotonia, hyperkinetic movements, dysmorphic facial features, and brain imaging abnormalities (summary by Schneider et al., 2021). For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350. [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: CENP-30, DEE100, Fbx28, FBXO28
    Summary: F-box protein 28

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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