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GTR Home > Conditions/Phenotypes > Developmental and epileptic encephalopathy, 50

Developmental and epileptic encephalopathy, 50

Synonyms
Epileptic encephalopathy, early infantile, 50
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Developmental and epileptic encephalopathy-50 (DEE50) is an autosomal recessive progressive neurodegenerative neurometabolic disorder characterized by delayed psychomotor development, early-onset refractory seizures, severe developmental regression, and normocytic anemia. Onset is within the first months or years of life. Evidence suggests that affected children can have a favorable response to treatment with uridine (summary by Koch et al., 2017). For a discussion of genetic heterogeneity of DEE, see 308350. [from OMIM]

Available tests

17 tests are in the database for this condition.

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Clinical tests (17 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CDG1Z, DEE50, EIEE50, GATD4, CAD
    Summary: carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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