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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
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O75899 | Gamma-aminobutyric acid type B receptor subunit 2 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002876 | Episodic tachypnea |
| HP:0002882 | Sudden episodic apnea |
| HP:0003763 | Bruxism |
| HP:0003808 | Abnormal muscle tone |
| HP:0004302 | Functional motor deficit |
| HP:0004305 | Involuntary movements |
| HP:0005484 | Secondary microcephaly |
| HP:0007281 | Developmental stagnation |
| HP:0007328 | Impaired pain sensation |
| HP:0007824 | Total ophthalmoplegia |
