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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
- Mondo Disease Ontology
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000508 | Ptosis |
| HP:0001251 | Ataxia |
| HP:0000639 | Nystagmus |
| HP:0000494 | Downslanted palpebral fissures |
| HP:0000717 | Autism |
| HP:0001315 | Reduced tendon reflexes |
| HP:0002133 | Status epilepticus |
| HP:0001268 | Mental deterioration |
| HP:0001558 | Decreased fetal movement |
| HP:0001263 | Global developmental delay |
