Hermansky-Pudlak syndrome 6

Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the HPS6 gene that affects lysosome‑related organelle formation, including melanosomes and platelet dense granules. The presentation includes oculocutaneous albinism with nystagmus and reduced visual acuity and a platelet‑type bleeding diathesis, typically mild. Systemic complications reported in other HPS types are generally absent in HPS6.