GenTIGSA Gene Database on Rare Genetic Disorders
Pyridoxal Phosphate-responsive Seizures  
Disease Aliases (12)

Epileptic encephalopathy, neonatal, pnpo-related

Pnpo deficiency

Pnpo-related neonatal epileptic encephalopathy

Pnpod

Pyridox(am)ine 5’-phosphate oxidase deficiency

Pyridoxal 5-phosphate dependent epilepsy

Pyridoxal phosphate-dependent seizures

Pyridoxamine 5'-oxidase deficiency

Pyridoxamine 5'-phosphate oxidase deficiency

Pyridoxamine 5-prime-phosphate oxidase deficiency

Pyridoxine 5' phosphate oxidase deficiency

Pyridoxine-5'-phosphate oxidase deficiency

Associated Genes (0)
 

Cross-references of Pyridoxal phosphate-responsive seizures OMIM GARD Orphanet NCBI-GTR NCBI-MedGen MalaCards      MeSH Annotations