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GTR Home > Conditions/Phenotypes > Developmental and epileptic encephalopathy, 86

Developmental and epileptic encephalopathy, 86

Synonyms
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 86

Summary

Developmental and epileptic encephalopathy-86 (DEE86) is an X-linked neurologic syndrome characterized by severe and persistent seizures associated with EEG abnormalities beginning in the first few months of life, global developmental delay, severe motor deficits, dystonic movements, and dysmorphic facial features (Lentini et al., 2020). 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: DEE86, EIEE86, DALRD3
    Summary: DALR anticodon binding domain containing 3

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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