Vroeg optredend ernstig syndroom van Hermansky-Pudlak met gehoorverlies door AP3D1-deficiëntie
ORPHA:664511· Early-onset severe Hermansky-Pudlak syndrome with hearing loss, due to AP3D1 deficiency
- Overerving
- Autosomal recessive
ORPHA:664511· Early-onset severe Hermansky-Pudlak syndrome with hearing loss, due to AP3D1 deficiency