Developmental delay and seizures with or without movement abnormalities

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Description

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).

OMIM

  • Mode of Inheritance

  • Autosomal dominant inheritance

Genes

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