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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:0002540 | Inability to walk |
| HP:0011344 | Severe global developmental delay |
| HP:0002187 | Intellectual disability, profound |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0011097 | Epileptic spasm |
| HP:0002069 | Bilateral tonic-clonic seizure |
| HP:0200134 | Epileptic encephalopathy |
| HP:0002266 | Focal clonic seizure |
| HP:0000817 | Reduced eye contact |
| HP:0003593 | Infantile onset |
