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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:0007018 | Attention deficit hyperactivity disorder |
| HP:0002421 | Poor head control |
| HP:0010844 | EEG with multifocal slow activity |
| HP:0012447 | Abnormal myelination |
| HP:0002521 | Hypsarrhythmia |
| HP:0100660 | Dyskinesia |
| HP:0004322 | Short stature |
| HP:0011968 | Feeding difficulties |
| HP:0007099 | Chiari type I malformation |
| HP:0002123 | Generalized myoclonic seizure |
