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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

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: CIT, CPT, DEDSM, DS, HDS, RP59, hCIT, DHDDS
    Summary: dehydrodolichyl diphosphate synthase subunit

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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