ORPHA:664511
Early-onset severe Hermansky-Pudlak syndrome with hearing loss, due to AP3D1 deficiency
Also called Early-onset severe Hermansky-Pudlak syndrome with deafness, Early-onset severe Hermansky-Pudlak syndrome with hearing loss due to adaptator related protein complex 3 subunit delta 1 deficiency, Early-onset severe Hermansky-Pudlak syndrome with neutropenia and hearing loss due to AP3D1 deficiency, HPS10, Hermansky-Pudlak syndrome type 10
- Body system
- Inborn errors of metabolism
- Inheritance pattern
- Autosomal recessive
- Typical age of onset
- Not documented in Orphadata
- Estimated prevalence
- Not documented in Orphadata
- Rarity class
- Not documented in Orphadata
ORPHA:664511 is classified under "Inborn errors of metabolism" in the Orphanet nomenclature.