Catalog

Hermansky-Pudlak syndrome with neutropaenia

No MMS code

Link to WHO Definition

Hermansky-Pudlak syndrome with neutropaenia – http://id.who.int/icd/entity/1415110774

HPS type 2, which is due to mutations in AP3B1 gene and presents with neutropaenia as well as the other characteristic features of HPS.