Variants
Sign InSign Up

Developmental delay and seizures with or without movement abnormalities

Your Results

Sign In

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

VARIANTS

6

SEE THE VARIANTS →

Genes

External Links

  • OMIM

    617836

  • Orphanet
  • HPO
  • Medgen

    C4693376

© 2024 Biocodify. All rights reserved.

TwitterTwitter

Product

HomePricingDashboard

Stay up to date

The latest news and updates from Biocodify, sent to your inbox.