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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:0000717 | Autism |
| HP:0000750 | Delayed speech and language development |
| HP:0001249 | Intellectual disability |
| HP:0001250 | Seizure |
| HP:0001251 | Ataxia |
| HP:0001257 | Spasticity |
| HP:0001263 | Global developmental delay |
| HP:0001265 | Hyporeflexia |
| HP:0001268 | Mental deterioration |
| HP:0001273 | Abnormal corpus callosum morphology |
