Früh einsetzendes schweres Hermansky-Pudlak-Syndrom mit Hörverlust durch AP3D1-Genmutation
ORPHA:664511· Early-onset severe Hermansky-Pudlak syndrome with hearing loss, due to AP3D1 deficiency
- Vererbung
- Autosomal recessive
ORPHA:664511· Early-onset severe Hermansky-Pudlak syndrome with hearing loss, due to AP3D1 deficiency