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developmental and epileptic encephalopathy 59
Summary
- Synonym
-
- DEE59
- early infantile epileptic encephalopathy 59
- Definition
- A developmental and epileptic encephalopathy characterized by severe global developmental delay and onset of seizures in the first months of life that has_material_basis_in heterozygous mutation in the GABBR2 gene on chromosome 9q22.
- Super Class
- autosomal dominant disease developmental and epileptic encephalopathy
External Links
- Disease Ontology
- DOID:0080291
- Mondo Disease Ontology
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002300 | Mutism |
| HP:0002353 | EEG abnormality |
| HP:0002360 | Sleep abnormality |
| HP:0002371 | Loss of speech |
| HP:0002376 | Developmental regression |
| HP:0002505 | Loss of ambulation |
| HP:0002540 | Inability to walk |
| HP:0002650 | Scoliosis |
| HP:0002793 | Abnormal pattern of respiration |
| HP:0002808 | Kyphosis |
