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GTR Home > Conditions/Phenotypes > Developmental and epileptic encephalopathy, 58

Developmental and epileptic encephalopathy, 58

Synonyms
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 58

Summary

Developmental and epileptic encephalopathy-58 (DEE58) is a severe neurodevelopmental disorder characterized by the onset of infantile spasms and refractory seizures in the first days or months of life. Affected individuals have global developmental delay with impaired intellectual development, usually with absent speech and inability to walk. Additional features include optic atrophy with poor or absent visual fixation, hypotonia, feeding difficulties, and spasticity (summary by Hamdan et al., 2017). For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350. [from OMIM]

Available tests

11 tests are in the database for this condition.

Clinical tests (11 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: DEE58, EIEE58, GP145-TrkB, OBHD, TRKB, trk-B, NTRK2
    Summary: neurotrophic receptor tyrosine kinase 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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