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GTR Home > Conditions/Phenotypes > Developmental and epileptic encephalopathy, 83

Developmental and epileptic encephalopathy, 83

Synonyms
BARAKAT-PERENTHALER SYNDROME; EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 83

Summary

Developmental and epileptic encephalopathy-83 (DEE83) is a severe autosomal recessive neurodevelopmental disorder characterized by onset of frequent seizures in the first days to months of life that are usually refractory to medical treatment and are associated with significant EEG abnormalities. Affected individuals have profoundly impaired development, with no motor or language skill acquisition, poor or absent visual tracking, and poor oromotor function necessitating tube feeding. Many patients die in the first years of life (summary by Perenthaler et al., 2020). For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350. [from OMIM]

Available tests

5 tests are in the database for this condition.

Clinical tests (5 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: DEE83, EIEE83, SVUGP2, UDPG, UDPGP, UDPGP2, UGP1, UGPP1, UGPP2, pHC379, UGP2
    Summary: UDP-glucose pyrophosphorylase 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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