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developmental and epileptic encephalopathy 14
Summary
- Synonym
-
- DEE14
- early infantile epileptic encephalopathy 14
- Definition
- A developmental and epileptic encephalopathy characterized by refractory focal seizures developing by 6 months of age and arrest of psychomotor development that has_material_basis_in heterozygous mutation in the KCNT1 gene on chromosome 9q34.
- Super Class
- autosomal dominant disease developmental and epileptic encephalopathy
External Links
- Disease Ontology
- DOID:0080439
- Mondo Disease Ontology
- OMIM
- MGI genotype (from TogoID)
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002650 | Scoliosis |
| HP:0000252 | Microcephaly |
| HP:0007334 | Bilateral tonic-clonic seizure with focal onset |
| HP:0002069 | Bilateral tonic-clonic seizure |
| HP:0012448 | Delayed myelination |
| HP:0001273 | Abnormal corpus callosum morphology |
| HP:0002540 | Inability to walk |
| HP:0100543 | Cognitive impairment |
| HP:0001508 | Failure to thrive |
| HP:0004302 | Functional motor deficit |
