BLOC1S3

biogenesis of lysosomal organelles complex 1 subunit 3
OMIM: 609762
PanelMode of inheritanceDetails
2 panels
R-numbers: R39
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hermansky-Pudlak syndrome 8, OMIM:614077, MONDO:0013560
R-numbers: R90
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hermansky-Pudlak syndrome 8, 614077