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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:0000648 | Optic atrophy |
| HP:0000504 | Abnormality of vision |
| HP:0000750 | Delayed speech and language development |
| HP:0000348 | High forehead |
| HP:0000708 | Atypical behavior |
| HP:0001250 | Seizure |
| HP:0000546 | Retinal degeneration |
| HP:0000252 | Microcephaly |
| HP:0000639 | Nystagmus |
| HP:0000717 | Autism |
