Locus | Oculocutaneous albinism | Bleeding disorders | Short stature | Neurological symptoms | HLH | Neutropenia | NKs defects | CTLs defects | Giant granules | |
---|---|---|---|---|---|---|---|---|---|---|
CHS | CHS1 | + | + | - | + | + | +/-* | + | + | + |
GS2 | RAB27A | + | - | - | - | + | +/-* | + | + | - |
HPS2 | ADTB3A | + | + | - | - | + | + | + | + | - |
HPS9 | PLDN | + | - | - | - | - | - | + | N/A | - |
MAPBPIP deficiency | LAMTOR2 | + | - | + | - | - | + | + | + | - |