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developmental and epileptic encephalopathy 26
Summary
- Synonym
-
- DEE26
- early infantile epileptic encephalopathy 26
- Definition
- A developmental and epileptic encephalopathy characterized by onset in the first years of life of seizures, developmental delay, intellectual disability, poor speech, and behavioral abnormalities that has_material_basis_in heterozygous mutation in the KCNB1 gene on chromosome 20q13.
- Super Class
- autosomal dominant disease developmental and epileptic encephalopathy
External Links
- Disease Ontology
- DOID:0080461
- Mondo Disease Ontology
- OMIM
- GARD
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0007018 | Attention deficit hyperactivity disorder |
| HP:0002421 | Poor head control |
| HP:0010844 | EEG with multifocal slow activity |
| HP:0012447 | Abnormal myelination |
| HP:0002521 | Hypsarrhythmia |
| HP:0100660 | Dyskinesia |
| HP:0004322 | Short stature |
| HP:0011968 | Feeding difficulties |
