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developmental and epileptic encephalopathy 99
Summary
- Synonym
-
- DEE99
- early infantile epileptic encephalopathy 99
- Definition
- A developmental and epileptic encephalopathy characterized by onset of seizures in early childhood that has_material_basis_in heterozygous mutation in the ATP1A3 gene on chromosome 19q13.
- Super Class
- autosomal dominant disease developmental and epileptic encephalopathy
External Links
- Disease Ontology
- DOID:0070385
- Mondo Disease Ontology
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0010844 | EEG with multifocal slow activity |
| HP:0011443 | Abnormality of coordination |
| HP:0011968 | Feeding difficulties |
| HP:0012444 | Brain atrophy |
| HP:0012447 | Abnormal myelination |
| HP:0012547 | Abnormal involuntary eye movements |
| HP:0100660 | Dyskinesia |
| HP:0100710 | Impulsivity |
