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developmental and epileptic encephalopathy 60
Summary
- Synonym
-
- DEE60
- early infantile epileptic encephalopathy 60
- Definition
- A developmental and epileptic encephalopathy characterized by onset of infantile spasms, seizures, or myoclonus in the first months of life, hypsarrhythmia on EEG, and severe global developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in the CNPY3 gene on chromosome 6p.
- Super Class
- autosomal recessive disease developmental and epileptic encephalopathy
External Links
- Disease Ontology
- DOID:0080432
- Mondo Disease Ontology
- OMIM
Related Genes
- 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 |
