Details of Disease | DrugMAP

General Information of Disease (ID: DISWBLYL)

Disease Name	Developmental delay and seizures with or without movement abnormalities
Synonyms	DEDSM; developmental delay and seizures with or without movement abnormalities
Definition	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 {1:Hamdan et al., 2017}).
Disease Hierarchy	DIS372XH: Neurodevelopmental disorder DISWBLYL: Developmental delay and seizures with or without movement abnormalities
Disease Identifiers	MONDO ID MONDO_0044326 UMLS CUI C4693376 OMIM ID 617836 MedGen ID 1641343

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
DHDDS	OTVLYBUS	Strong	Autosomal dominant	[1]
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References

1	De novo mutations in epileptic encephalopathies. Nature. 2013 Sep 12;501(7466):217-21. doi: 10.1038/nature12439. Epub 2013 Aug 11.