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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: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:0002187 | Intellectual disability, profound |
| HP:0010819 | Atonic seizure |
| HP:0000817 | Reduced eye contact |
| HP:0002540 | Inability to walk |
