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developmental and epileptic encephalopathy 24
Summary
- Synonym
-
- DEE24
- early infantile epileptic encephalopathy 24
- Definition
- A developmental and epileptic encephalopathy characterized by onset in infancy of refactory seizures, severely impaired global development, intellectual disability, and behavioral abnormalities that has_material_basis_in heterozygous mutation in the HCN1 gene on chromosome 5p12.
- Super Class
- autosomal dominant disease developmental and epileptic encephalopathy
External Links
- Disease Ontology
- DOID:0080429
- Mondo Disease Ontology
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001298 | Encephalopathy |
| HP:0002063 | Rigidity |
| HP:0001265 | Hyporeflexia |
| HP:0001508 | Failure to thrive |
| HP:0011443 | Abnormality of coordination |
| HP:0004305 | Involuntary movements |
| HP:0012547 | Abnormal involuntary eye movements |
| HP:0002509 | Limb hypertonia |
| HP:0012444 | Brain atrophy |
| HP:0100710 | Impulsivity |
