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GTR Home > Conditions/Phenotypes > Developmental and epileptic encephalopathy, 70

Developmental and epileptic encephalopathy, 70

Synonyms
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 70

Summary

Developmental and epileptic encephalopathy-70 (DEE70) is neurologic disorder characterized by the onset of epileptic spasms or seizures in the first months of life. EEG may show hypsarrhythmia, consistent with a clinical diagnosis of West syndrome. Affected individuals show severely delayed psychomotor development with impaired or absent walking and language skills; intellectual impairment ranges from moderate to severe (summary by Hamada et al., 2018). For a discussion of genetic heterogeneity of DEE, see 308350. [from OMIM]

Available tests

9 tests are in the database for this condition.

Clinical tests (9 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: DEE70, EIEE70, RPEL, RPEL1, dJ257A7.2, PHACTR1
    Summary: phosphatase and actin regulator 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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