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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:0011344 | Severe global developmental delay |
| HP:0011968 | Feeding difficulties |
| HP:0012171 | Stereotypical hand wringing |
| HP:0012332 | Abnormal autonomic nervous system physiology |
| HP:0012469 | Infantile spasms |
| HP:0012719 | Functional abnormality of the gastrointestinal tract |
| HP:0012760 | Reduced social reciprocity |
| HP:0100022 | Abnormality of movement |
| HP:0100703 | Tongue thrusting |
| HP:0200055 | Small hand |
