| neurodegeneratie geassocieerd met bètapropellerproteïne (aandoening) |
| neurodegeneratie geassocieerd met bètapropellerproteïne |
| BPAN
NBIA5
neurodegeneratie met ijzerstapeling in hersenen type 5
beta-propeller protein-associated neurodegeneration
statische encefalopathie in kindertijd met neurodegeneratie in volwassenheid
SENDA
|
| Beta-propeller protein-associated neurodegeneration |
| Neurodegeneration with brain iron accumulation type 5
Static encephalopathy of childhood with neurodegeneration in adulthood
BPAN - beta-propeller protein-associated neurodegeneration
|
| A rare form of neurodegeneration with brain iron accumulation (NBIA) with characteristics of early-onset developmental delay and further neurological deterioration in early adulthood. Caused by de novo heterozygous or hemizygous mutation in the WDR45 gene on chromosome Xp11. |
