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MIRAGE
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
Related Genes
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:0000007 | Autosomal recessive inheritance |
| HP:0003593 | Infantile onset |
| HP:0002069 | Bilateral tonic-clonic seizure |
| HP:0011344 | Severe global developmental delay |
| HP:0000737 | Irritability |
| HP:0002476 | Primitive reflex |
| HP:0200134 | Epileptic encephalopathy |
| HP:0002266 | Focal clonic seizure |
| HP:0011097 | Epileptic spasm |
| HP:0001252 | Hypotonia |
