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developmental delay and seizures with or without movement abnormalities
Summary
- Definition
- A syndromic intellectual disability characterized by global developmental delay, variable intellectual disability, and early-onset seizures with a myoclonic component that has_material_basis_in heterozygous mutation in the DHDDS gene on chromosome 1p36.
- Super Class
- syndromic intellectual disability
External Links
- Disease Ontology
- DOID:0080473
- Mondo Disease Ontology
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0003828 | Variable expressivity |
| HP:0200134 | Epileptic encephalopathy |
| HP:0002067 | Bradykinesia |
| HP:0000006 | Autosomal dominant inheritance |
| HP:0002069 | Bilateral tonic-clonic seizure |
| HP:0001332 | Dystonia |
| HP:0011150 | Myoclonic absence seizure |
| HP:0002353 | EEG abnormality |
