Hermansky-Pudlak syndrome 9

Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the BLOC1S6 gene, resulting in defective melanosomes and absence of platelet dense granules. The phenotype includes oculocutaneous/ocular albinism with nystagmus and reduced visual acuity and a bleeding tendency. Distinguishing features can include leukopenia with recurrent infections and thrombocytopenia in some patients.