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MIRAGE
developmental and epileptic encephalopathy 65
Summary
- Synonym
-
- DEE65
- early infantile epileptic encephalopathy 65
- Definition
- A developmental and epileptic encephalopathy characterized by onset in the first months to years of life of various types of intractable seizures, severe to profound psychomotor developmental delay, and mild facial dysmorphism that has_material_basis_in heterozygous mutation in the CYFIP2 gene on chromosome 5q33.
- Super Class
- autosomal dominant disease developmental and epileptic encephalopathy
External Links
- Disease Ontology
- DOID:0080430
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q96F07 | Cytoplasmic FMR1-interacting protein 2 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000494 | Downslanted palpebral fissures |
| HP:0000252 | Microcephaly |
| HP:0000348 | High forehead |
| HP:0000504 | Abnormality of vision |
| HP:0000508 | Ptosis |
| HP:0000546 | Retinal degeneration |
| HP:0000639 | Nystagmus |
| HP:0000708 | Atypical behavior |
| HP:0000668 | Hypodontia |
| HP:0000717 | Autism |
