Developmental delay and seizures with or without movement abnormalities
Your Results
Sign InDescription
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).
Mode of Inheritance
- Autosomal dominant inheritance
VARIANTS
6