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GTR Home > Conditions/Phenotypes > Developmental and epileptic encephalopathy, 75

Developmental and epileptic encephalopathy, 75

Synonyms
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 75

Summary

Developmental and epileptic encephalopathy-75 (DEE75) is an autosomal recessive neurodevelopmental and neurodegenerative disorder characterized by onset of severe refractory seizures in the first months of life. Patients often have global developmental delay before the onset of seizures, and thereafter achieve few milestones. EEG usually shows multifocal spikes and hypsarrhythmia, consistent with a clinical diagnosis of West syndrome. They have severely impaired intellectual development with inability to walk, absent speech, and hypotonia with axial hyperreflexia. Brain imaging shows progressive cerebral atrophy, frontal lobe atrophy, white matter abnormalities, and delayed myelination. Since the disorder is due to mitochondrial dysfunction, some patients may develop other organ involvement, including cardiomyopathy or liver and renal dysfunction. Death may occur in childhood (summary by Yin et al., 2018). For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350. [from OMIM]

Available tests

15 tests are in the database for this condition.

Clinical tests (15 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: DEE75, EIEE75, MT-PRORS, proRS, PARS2
    Summary: prolyl-tRNA synthetase 2, mitochondrial

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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