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Repository for lectin-assisted multimodality data
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MIRAGE
developmental and epileptic encephalopathy 92
Summary
- Definition
- A developmental and epileptic encephalopathy characterized by onset of seizures in infancy or early childhood, global developmental delay and variable intellectual disability that has_material_basis_in heterozygous mutation in the GABRB2 gene on chromosome 5q34.
- Super Class
- autosomal dominant disease developmental and epileptic encephalopathy
External Links
- Disease Ontology
- DOID:0080471
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P47870 | Gamma-aminobutyric acid receptor subunit beta-2 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001290 | Generalized hypotonia |
| HP:0000750 | Delayed speech and language development |
| HP:0001336 | Myoclonus |
| HP:0001257 | Spasticity |
| HP:0002020 | Gastroesophageal reflux |
| HP:0001273 | Abnormal corpus callosum morphology |
| HP:0002063 | Rigidity |
| HP:0001265 | Hyporeflexia |
| HP:0001508 | Failure to thrive |
| HP:0001250 | Seizure |
