ORPHA:79430

Hermansky-Pudlak syndrome

Also called HPS

Body system

Inborn errors of metabolism

Inheritance pattern

Autosomal recessive

Typical age of onset

Infancy, Neonatal

Estimated prevalence

1-9 / 1 000 000 (Worldwide)

Rarity class

1-9 / 1 000 000

ORPHA:79430 is classified under "Inborn errors of metabolism" in the Orphanet nomenclature.