U.S. flag

An official website of the United States government

GTR Home > Conditions/Phenotypes > Developmental delay and seizures with or without movement abnormalities

Developmental delay and seizures with or without movement abnormalities

Summary

DEDSM is a neurodevelopmental disorder characterized by global developmental delay, variable intellectual disability, and early-onset seizures with a myoclonic component. Most patients have delayed motor development and show abnormal movements, including ataxia, dystonia, and tremor (summary by Hamdan et al., 2017). [from OMIM]

Available tests

14 tests are in the database for this condition.

Clinical tests (14 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CIT, CPT, DEDSM, DS, HDS, RP59, hCIT, DHDDS
    Summary: dehydrodolichyl diphosphate synthase subunit

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.