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developmental and epileptic encephalopathy 46
Summary
- Synonym
-
- DEE46
- early infantile epileptic encephalopathy 46
- Definition
- A developmental and epileptic encephalopathy characterized by onset in the first months or years of life of intractable seizures, global developmental delay, failure to thrive, hypotonia, hyperreflexia, and variably impaired intellectual development that has_material_basis_in heterozygous mutation in the GRIN2D gene on chromosome 19q13.
- Super Class
- autosomal dominant disease developmental and epileptic encephalopathy
External Links
- Disease Ontology
- DOID:0080456
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O15399 | Glutamate receptor ionotropic, NMDA 2D |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000494 | Downslanted palpebral fissures |
| HP:0000252 | Microcephaly |
| HP:0000348 | High forehead |
| HP:0000504 | Abnormality of vision |
| HP:0000508 | Ptosis |
| HP:0000546 | Retinal degeneration |
| HP:0000639 | Nystagmus |
| HP:0000708 | Atypical behavior |
| HP:0000668 | Hypodontia |
| HP:0000717 | Autism |
