Hermansky-Pudlak syndrome 7

Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the DTNBP1 gene, leading to defective melanosomes and lack of platelet dense granules. Core features comprise oculocutaneous/ocular albinism with visual impairment and a platelet‑type bleeding diathesis. Granulomatous colitis has been reported in some patients.