U.S. flag

An official website of the United States government

GTR Home > Conditions/Phenotypes > Developmental and epileptic encephalopathy, 21

Developmental and epileptic encephalopathy, 21

Synonyms
Early infantile epileptic encephalopathy 21

Summary

Developmental and epileptic encephalopathy-21 (DEE21) is an autosomal recessive neurologic disorder characterized by the onset of intractable seizures in the first months of life. Affected individuals have severely impaired psychomotor development with poor head control and inability to fix and follow visually. Other features may include axial hypotonia, peripheral hypertonia, and cerebral atrophy or delayed myelination on brain imaging (summary by Alazami et al., 2014 and Alsahli et al., 2018). For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350. [from OMIM]

Available tests

16 tests are in the database for this condition.

Clinical tests (16 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: DEE21, EIEE21, NECAP1
    Summary: NECAP endocytosis associated 1

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.