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OMIM ID
610090
OMIM term:
PYRIDOXAMINE 5-PRIME-PHOSPHATE OXIDASE DEFICIENCY
Alternative terms:
PNPO DEFICIENCY
SEIZURES, PYRIDOXINE-RESISTANT, PLP-SENSITIVE
EPILEPTIC ENCEPHALOPATHY, NEONATAL, PNPO-RELATED
(∗) Location:
17q21.32
(†) Associated OMIM genes:
PNPO
(‡) Associated MGI genes:
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