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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 mutation | Chromosome rearrangement | Effect | Comments |
| missense
|  
| abnormal protein/loss of function
|  
| |
Remark(s) |