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developmental and epileptic encephalopathy 15
Summary
- Synonym
-
- DEE15
- early infantile epileptic encephalopathy 15
- Definition
- A developmental and epileptic encephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the ST3GAL3 gene on chromosome 1p34.
- Super Class
- autosomal recessive disease developmental and epileptic encephalopathy
External Links
- Disease Ontology
- DOID:0080414
- Mondo Disease Ontology
- OMIM
Related Genes
| Gene ID | Gene Symbol | Description | Source | Organism |
|---|---|---|---|---|
| 402789 | st3gal3 | ST3 beta-galactoside alpha-2,3-sialyltransferase 3 | Xenopus tropicalis (tropical clawed frog) | |
| 108715547 | LOC108715547 | CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase | Xenopus laevis (African clawed frog) |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q11203 | CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002521 | Hypsarrhythmia |
| HP:0001336 | Myoclonus |
| HP:0012469 | Infantile spasms |
| HP:0000707 | Abnormality of the nervous system |
| HP:0011121 | Abnormal skin morphology |
| HP:0002376 | Developmental regression |
| HP:0002476 | Primitive reflex |
| HP:0001252 | Hypotonia |
| HP:0010819 | Atonic seizure |
| HP:0000737 | Irritability |
