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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
- Mondo Disease Ontology
- OMIM
Related Genes
| Gene ID | Gene Symbol | Description | Source | Organism |
|---|---|---|---|---|
| 397953 | grin1.L | glutamate ionotropic receptor NMDA type subunit 1 L homeolog | Xenopus laevis (African clawed frog) | |
| 108699855 | grin1.S | glutamate ionotropic receptor NMDA type subunit 1 S homeolog | Xenopus laevis (African clawed frog) |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000508 | Ptosis |
| HP:0001251 | Ataxia |
| HP:0000639 | Nystagmus |
| HP:0000494 | Downslanted palpebral fissures |
| HP:0000717 | Autism |
| HP:0001315 | Reduced tendon reflexes |
| HP:0002133 | Status epilepticus |
| HP:0001268 | Mental deterioration |
| HP:0001558 | Decreased fetal movement |
| HP:0001263 | Global developmental delay |
