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MIRAGE
developmental and epileptic encephalopathy 101
Summary
- Synonym
-
- DEE101
- early infantile epileptic encephalopathy 101
- Definition
- A developmental and epileptic encephalopathy characterized by early infantile epileptic encephalopathy and severe global developmental delay that has_material_basis_in homozygous mutation in the GRIN1 gene on chromosome 9q34.
- Super Class
- autosomal recessive disease developmental and epileptic encephalopathy
External Links
- Disease Ontology
- DOID:0070387
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q05586 | Glutamate receptor ionotropic, NMDA 1 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000494 | Downslanted palpebral fissures |
| HP:0000639 | Nystagmus |
| HP:0001273 | Abnormal corpus callosum morphology |
| HP:0002020 | Gastroesophageal reflux |
| HP:0001257 | Spasticity |
| HP:0001336 | Myoclonus |
| HP:0001250 | Seizure |
| HP:0001508 | Failure to thrive |
| HP:0001265 | Hyporeflexia |
| HP:0002063 | Rigidity |
