U.S. flag

An official website of the United States government

GTR Home > Conditions/Phenotypes > Developmental and epileptic encephalopathy, 60

Developmental and epileptic encephalopathy, 60

Synonyms
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 60

Summary

Developmental and epileptic encephalopathy-60 (DEE60) is an autosomal recessive neurologic disorder characterized by the onset of infantile spasms, seizures, or myoclonus in the first months of life. EEG typically shows hypsarrhythmia, consistent with a clinical diagnosis of West syndrome. Affected individuals have severe global developmental delay with inability to sit, walk, or speak. Brain imaging may show brain atrophy and hippocampal malrotation (summary by Mutoh et al., 2018). For a discussion of genetic heterogeneity of DEE, see 308350. [from OMIM]

Available tests

8 tests are in the database for this condition.

Clinical tests (8 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CAG4A, DEE60, EIEE60, ERDA5, PRAT4A, TNRC5, CNPY3
    Summary: canopy FGF signaling regulator 3

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

Show allHide all

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.