| Diagnosis | Omim Number | Sample Count |
| XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A; XPA | 278700 | 35 |
| XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP B; XPB | | 14 |
| XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C; XPC | 278720 | 109 |
| XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D; XPD | 278730 | 41 |
| XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E | 278740 | 4 |
| XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP F; XPF | 278760 | 3 |
| XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP G; XPG | 278780 | 16 |
| XERODERMA PIGMENTOSUM, VARIANT TYPE; XPV | 278750 | 21 |
| XERODERMA PIGMENTOSUM: COMPLEMENTATION GROUP UNDETERMINED | | 8 |
| XX GONADAL DYSGENESIS | 233300 | 1 |
| XX MALE SYNDROME | 278850 | 8 |
| XXXX SYNDROME | | 2 |
| XXXXX SYNDROME | | 1 |
| XXXY AND XXXXY SYNDROME | | 4 |
| XXY SYNDROME; KLINEFELTER SYNDROME | | 13 |
| XYY SYNDROME | | 4 |