Hermanski-Pudlak Syndrome

Synonyms

Hermanski Pudlak Syndrome

Hermansky Pudlak Syndrome

Hermansky-Pudlak Syndrome

Syndrome characterized by the triad of oculocutaneous albinism (ALBINISM, OCULOCUTANEOUS); PLATELET STORAGE POOL DEFICIENCY; and lysosomal accumulation of ceroid lipofuscin.