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GTR Home > Conditions/Phenotypes > Developmental and epileptic encephalopathy 109

Developmental and epileptic encephalopathy 109

Summary

Developmental and epileptic encephalopathy-109 (DEE109) is characterized by the onset of various types of seizures in the first months or years of life. Affected individuals show developmental delay before and concurrent with the onset of seizures. Features include impaired intellectual development with poor speech, ataxic gait, coordination problems, and behavioral abnormalities (Manivannan et al., 2022). 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: CDC20C, CDH1, DEE109, FZR, FZR2, HCDH, HCDH1, FZR1
    Summary: fizzy and cell division cycle 20 related 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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