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developmental and epileptic encephalopathy 93
Summary
- Synonym
-
- DEE93
- IECEE3
- infantile or early childhood epileptic encephalopathy 3
- Definition
- A developmental and epileptic encephalopathy characterized by delayed psychomotor development, early-onset refractory seizures, and impaired intellectual development that has_material_basis_in heterozygous mutation in the ATP6V1A gene on chromosome 3q13.31.
- Super Class
- autosomal dominant disease developmental and epileptic encephalopathy
External Links
- Disease Ontology
- DOID:0112275
- Mondo Disease Ontology
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001252 | Hypotonia |
| HP:0002069 | Bilateral tonic-clonic seizure |
| HP:0200134 | Epileptic encephalopathy |
| HP:0001272 | Cerebellar atrophy |
| HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) |
| HP:0003593 | Infantile onset |
| HP:0001347 | Hyperreflexia |
