| FHL and related disorder | Chromosomal location/gene mutated | Nature of encoded protein |
| FHL type 1 | 9q21.3-q22 | Unknown |
| FHL type 2 | 10q22.1/PRF1 | Pore forming cytolytic protein |
| FHL type 3 | 17q25.1/UNC13D | Ca2+ binding vesicle priming protein regulating vesicle fusion |
| FHL type 4 | 6q24.2/STX11 | t-SNARE |
| FHL type 5 | 19p13.2/STXBP2 | SNARE interacting protein regulating vesicle priming and fusion |
| Chédiak-Higashi syndrome (CHS) | 1q42.3/LYST | Lysosomal trafficking regulator |
| Griscelli syndrome type 2 | 15q21.3/RAB27A | Rab family small GTPase regulating endosomal traffic |