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.