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developmental and epileptic encephalopathy 33
Summary
- Synonym
-
- DEE33
- early infantile epileptic encephalopathy 33
- Definition
- A developmental and epileptic encephalopathy characterized by onset in the first months of life of seizures and severe global developmental delay with impaired intellectual development and poor or absent speech that has_material_basis_in heterozygous mutation in the EEF1A2 gene on chromosome 20q13.
- Super Class
- autosomal dominant disease developmental and epileptic encephalopathy
External Links
- Disease Ontology
- DOID:0080463
- Mondo Disease Ontology
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000648 | Optic atrophy |
| HP:0000504 | Abnormality of vision |
| HP:0000750 | Delayed speech and language development |
| HP:0000348 | High forehead |
| HP:0000708 | Atypical behavior |
| HP:0001250 | Seizure |
| HP:0000546 | Retinal degeneration |
| HP:0000252 | Microcephaly |
| HP:0000639 | Nystagmus |
| HP:0000717 | Autism |
