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early-onset vitamin B6-dependent epilepsy 1
Summary
- Synonym
-
- EPEO1
- PDE-PLPBP
- Definition
- A pyridoxine-dependent epilepsy that has_material_basis_in homozygous or compound heterozygous mutation in the PLPBP gene on chromosome 8p11.23.
- Super Class
- pyridoxine-dependent epilepsy
External Links
- Disease Ontology
- DOID:0080769
- Mondo Disease Ontology
- OMIM
- WikiPathways (from TogoID)
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0012444 | Brain atrophy |
| HP:0002280 | Enlarged cisterna magna |
| HP:0001249 | Intellectual disability |
| HP:0010851 | EEG with burst suppression |
| HP:0012758 | Neurodevelopmental delay |
| HP:0002643 | Neonatal respiratory distress |
| HP:0001557 | Prenatal movement abnormality |
| HP:0011152 | Early onset absence seizures |
| HP:0000711 | Restlessness |
| HP:0010841 | Multifocal epileptiform discharges |
