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developmental and epileptic encephalopathy 46
Summary
- Synonym
-
- DEE46
- early infantile epileptic encephalopathy 46
- Definition
- A developmental and epileptic encephalopathy characterized by onset in the first months or years of life of intractable seizures, global developmental delay, failure to thrive, hypotonia, hyperreflexia, and variably impaired intellectual development that has_material_basis_in heterozygous mutation in the GRIN2D gene on chromosome 19q13.
- Super Class
- autosomal dominant disease developmental and epileptic encephalopathy
External Links
- Disease Ontology
- DOID:0080456
- Mondo Disease Ontology
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002020 | Gastroesophageal reflux |
| HP:0001273 | Abnormal corpus callosum morphology |
| HP:0002317 | Unsteady gait |
| HP:0001336 | Myoclonus |
| HP:0001251 | Ataxia |
| HP:0001558 | Decreased fetal movement |
| HP:0001268 | Mental deterioration |
| HP:0002133 | Status epilepticus |
| HP:0001315 | Reduced tendon reflexes |
| HP:0002355 | Difficulty walking |
