HPS5

HPS5, biogenesis of lysosomal organelles complex 2 subunit 2
OMIM: 607521
PanelMode of inheritanceDetails
2 panels
R-numbers: R39
Signed-off version 1.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hermansky-Pudlak syndrome 5
R-numbers: R90
Signed-off version 1.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
614074 Hermansky-Pudlak syndrome 5