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developmental and epileptic encephalopathy 62
Summary
- Synonym
-
- DEE62
- early infantile epileptic encephalopathy 62
- Definition
- A developmental and epileptic encephalopathy characterized by onset of refractory seizures in the first weeks or months of life, severe to profound developmental delay, hypotonia, and impaired motor and cognitive development that has_material_basis_in heterozygous mutation in the SCN3A gene on chromosome 2q24.
- Super Class
- autosomal dominant disease developmental and epileptic encephalopathy
External Links
- Disease Ontology
- DOID:0080420
- Mondo Disease Ontology
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000648 | Optic atrophy |
| HP:0000504 | Abnormality of vision |
| HP:0000750 | Delayed speech and language development |
| HP:0000348 | High forehead |
| HP:0000708 | Atypical behavior |
| HP:0001250 | Seizure |
| HP:0000546 | Retinal degeneration |
| HP:0000252 | Microcephaly |
| HP:0000668 | Hypodontia |
| HP:0001249 | Intellectual disability |
