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GENATLAS PHENOTYPE
last update : 09-01-2017
Symbol NEE
Location 17q21
Name neonatal epileptic encephalopathy
Other name(s) pyridoxine-5-prime-phosphate oxydase deficiency
Corresponding gene PNPO
Other symbol(s) PNPOD
Main clinical features cellular deficiency of pyridoxal phosphate
Genetic determination autosomal recessive
Function/system disorder metabolism/vitamin
neurology
Type disease
Gene product
Name pyridoxine-5'-phosphate oxidase
Mechanism(s)
Gene mutationChromosome rearrangementEffectComments
missense   abnormal protein/loss of function  
Remark(s)