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developmental and epileptic encephalopathy 25
Summary
- Synonym
-
- DEE25
- developmental and epileptic encephalopathy 25, with amelogenesis imperfecta
- early infantile epileptic encephalopathy 25
- Definition
- A developmental and epileptic encephalopathy characterized by onset in early infancy of refractory seizures, global developmental delay with intellectual disability, persistent neurologic symptoms, and dental anomalies that has_material_basis_in homozygous or compound heterozygous mutation in the SLC13A5 gene on chromosome 17p13.
- Super Class
- autosomal recessive disease developmental and epileptic encephalopathy
External Links
- Disease Ontology
- DOID:0080453
- Mondo Disease Ontology
- OMIM
- GARD
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:0000668 | Hypodontia |
| HP:0001249 | Intellectual disability |
