HPS4

HPS4, biogenesis of lysosomal organelles complex 3 subunit 2
OMIM: 606682
PanelMode of inheritanceDetails
3 panels
R-numbers: R39
Signed-off version 1.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hermansky-Pudlak syndrome 4
R-numbers: R90
Signed-off version 1.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
614073 Hermansky-Pudlak syndrome 4
R-numbers: R15
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hermansky-Pudlak syndrome 4, 614073