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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
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q05639 | Elongation factor 1-alpha 2 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000504 | Abnormality of vision |
| HP:0000648 | Optic atrophy |
| HP:0000348 | High forehead |
| HP:0000708 | Atypical behavior |
| HP:0000546 | Retinal degeneration |
| HP:0000252 | Microcephaly |
| HP:0000668 | Hypodontia |
| HP:0000508 | Ptosis |
| HP:0000717 | Autism |
| HP:0000494 | Downslanted palpebral fissures |
