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GTR Home > Conditions/Phenotypes > Developmental and epileptic encephalopathy, 28

Developmental and epileptic encephalopathy, 28

Synonyms
Epileptic encephalopathy, early infantile, 28

Summary

Developmental and epileptic encephalopathy-28 (DEE28) is an autosomal recessive severe neurologic disorder characterized by the onset of refractory seizures in the first months of life. Affected individuals have severe axial hypotonia and profoundly impaired psychomotor development. More severely affected patients have acquired microcephaly, poor or absent visual contact, and retinal degeneration; early death may occur (summary by Mignot et al., 2015). For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350. [from OMIM]

Available tests

28 tests are in the database for this condition.

Clinical tests (28 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: D16S432E, DEE28, EIEE28, FOR, FRA16D, HHCMA56, PRO0128, SCAR12, SDR41C1, WOX1, WWOX
    Summary: WW domain containing oxidoreductase

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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