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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:0000612 | Iris coloboma |
| HP:0003429 | CNS hypomyelination |
| HP:0001344 | Absent speech |
| HP:0001285 | Spastic tetraparesis |
| HP:0007359 | Focal-onset seizure |
| HP:0000006 | Autosomal dominant inheritance |
| HP:0001288 | Gait disturbance |
| HP:0002540 | Inability to walk |
| HP:0000540 | Hypermetropia |
| HP:0011463 | Childhood onset |
