pyridoxamine 5'-phosphate oxidase deficiency Gene Set

Dataset OMIM Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Pyridoxal phosphate-responsive seizures is a very rare neonatal epileptic encephalopathy disorder characterized clinically by onset of severe seizures within hours of birth that are not responsive to anticonvulsants, but are responsive to treatment with pyridoxal phosphate. (Orphanet Rare Disease Ontology, Orphanet_79096)
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1 genes associated with the pyridoxamine 5'-phosphate oxidase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

Symbol Name
PNPO pyridoxamine 5'-phosphate oxidase