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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:0007018 | Attention deficit hyperactivity disorder |
| HP:0002421 | Poor head control |
| HP:0010844 | EEG with multifocal slow activity |
| HP:0012447 | Abnormal myelination |
| HP:0002521 | Hypsarrhythmia |
| HP:0100660 | Dyskinesia |
| HP:0004322 | Short stature |
| HP:0011968 | Feeding difficulties |
