Síndrome Hermansky-Pudlak grave de início precoce com perda auditiva, devido a deficiência AP3D1
ORPHA:664511· Early-onset severe Hermansky-Pudlak syndrome with hearing loss, due to AP3D1 deficiency
- Hereditariedade
- Autosomal recessive
ORPHA:664511· Early-onset severe Hermansky-Pudlak syndrome with hearing loss, due to AP3D1 deficiency