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GTR Home > Conditions/Phenotypes > Developmental and epileptic encephalopathy, 51

Developmental and epileptic encephalopathy, 51

Synonyms
Epileptic encephalopathy, early infantile, 51

Summary

Developmental and epileptic encephalopathy-51 (DEE51) is an autosomal recessive severe neurodevelopmental disorder characterized by onset of intractable seizures and hypotonia in the first days or weeks of life. Affected individuals have severely delayed psychomotor development and may show abnormal movements. Brain imaging shows nonspecific abnormalities, such as cerebral atrophy, cerebellar atrophy, and delayed myelination. Laboratory studies showed increased lactate, suggesting mitochondrial dysfunction (summary by Ait-El-Mkadem et al., 2017). For a discussion of genetic heterogeneity of DEE, see 308350. [from OMIM]

Available tests

22 tests are in the database for this condition.

Clinical tests (22 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: DEE51, EIEE51, M-MDH, MDH, MGC:3559, MOR1, MDH2
    Summary: malate dehydrogenase 2

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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