HPS3

HPS3, biogenesis of lysosomal organelles complex 2 subunit 1
OMIM: 606118
PanelMode of inheritanceDetails
2 panels
R-numbers: R39
Signed-off version 1.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hermansky-Pudlak syndrome 3
R-numbers: R90
Signed-off version 1.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
614072 Hermansky-Pudlak syndrome 3