| Description | OMIM Number |
| ATAXIA-TELANGIECTASIA; AT | 208900 |
| BLOOM SYNDROME; BLM | 210900 |
| FANCONI ANEMIA COMPLEMENTATION GROUP A GENE; FANCA | 607139 |
| FANCONI ANEMIA, COMPLEMENTATION GROUP C; FANCC | 227645 |
| FANCONI ANEMIA, COMPLEMENTATION GROUP D1; FANCD1 | 605724 |
| FANCONI ANEMIA, COMPLEMENTATION GROUP D2; FANCD2 | 227646 |
| FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF | 603467 |
| HYPOMELANOSIS OF ITO; HMI | 300337 |
| IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME | 242860 |
| INCONTINENTIA PIGMENTI; IP | 308300 |
| NIJMEGEN BREAKAGE SYNDROME | 251260 |
