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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:0003128 | Lactic acidosis |
| HP:0012768 | Neonatal asphyxia |
| HP:0001943 | Hypoglycemia |
| HP:0011166 | Focal myoclonic seizure |
| HP:0000737 | Irritability |
| HP:0010845 | EEG with generalized slow activity |
| HP:0012420 | Meconium stained amniotic fluid |
| HP:0002188 | Delayed CNS myelination |
| HP:0000496 | Abnormality of eye movement |
| HP:0010819 | Atonic seizure |
