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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:0001290 | Generalized hypotonia |
| HP:0001298 | Encephalopathy |
| HP:0001315 | Reduced tendon reflexes |
| HP:0001336 | Myoclonus |
| HP:0001337 | Tremor |
| HP:0001508 | Failure to thrive |
| HP:0001558 | Decreased fetal movement |
| HP:0002020 | Gastroesophageal reflux |
| HP:0002059 | Cerebral atrophy |
| HP:0002063 | Rigidity |
