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GTR Home > Conditions/Phenotypes > Developmental and epileptic encephalopathy, 53

Developmental and epileptic encephalopathy, 53

Synonyms
Epileptic encephalopathy, early infantile, 53

Summary

Developmental and epileptic encephalopathy-53 (DEE53) is a severe autosomal recessive neurodegenerative disorder characterized by onset of intractable seizures in infancy. Affected individuals show hypotonia and very poor or absent global development, resulting in severe intellectual disability and spastic quadriplegia. Some patients may die in childhood (summary by Hardies et al., 2016). For a general phenotypic description and 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: DEE53, EIEE53, INPP5G, PARK20, SYNJ1
    Summary: synaptojanin 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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