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early-onset vitamin B6-dependent epilepsy 4
Summary
- Synonym
-
- AASA dehydrogenase deficiency
- EPEO4
- PDE-ALDH7A1
- antiquitin deficiency
- Definition
- A pyridoxine-dependent epilepsy that has_material_basis_in homozygous or compound heterozygous mutation in the ALDH7A1 gene on chromosome 5q23.2.
- Super Class
- pyridoxine-dependent epilepsy
External Links
- Disease Ontology
- DOID:0070519
- Mondo Disease Ontology
- OMIM
