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MIRAGE
developmental and epileptic encephalopathy 54
Summary
- Synonym
-
- DEE54
- early infantile epileptic encephalopathy 54
- Definition
- A developmental and epileptic encephalopathy characterized by delayed psychomotor development, early-onset refractory seizures, and severe intellectual disability that has_material_basis_in heterozygous mutation in the HNRNPU gene on chromosome 1q44.
- Super Class
- autosomal dominant disease developmental and epileptic encephalopathy
External Links
- Disease Ontology
- DOID:0080418
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q00839 | Heterogeneous nuclear ribonucleoprotein U |
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q8VEK3 | Heterogeneous nuclear ribonucleoprotein U |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0012554 | Absent thumbnail |
| HP:0100660 | Dyskinesia |
| HP:0100716 | Self-injurious behavior |
