BLOC1S6

biogenesis of lysosomal organelles complex 1 subunit 6
OMIM: 604310
PanelMode of inheritanceDetails
3 panels
R-numbers: R39
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Hermansky-pudlak syndrome 9 614171 AR
R-numbers: R90
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
614171 ?Hermansky-pudlak syndrome 9
R-numbers: R15
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hermansky-pudlak syndrome 9, 614171, HPS9, palladin deficiency (NK cell defect), Immune Dysregulation