ORPHA:231531
Hermansky-Pudlak syndrome due to BLOC-1 deficiency
- Body system
- Inborn errors of metabolism
- Inheritance pattern
- Autosomal recessive
- Typical age of onset
- Not documented in Orphadata
- Estimated prevalence
- <1 / 1 000 000 (Worldwide)
- Rarity class
- <1 / 1 000 000
ORPHA:231531 is classified under "Inborn errors of metabolism" in the Orphanet nomenclature.