| Diagnosis | Omim Number | Sample Count |
| WAS GENE; WAS | 300392 | 2 |
| WEAVER SYNDROME | 277590 | 2 |
| WERNER SYNDROME; WRN REPLICATION FOCUS-FORMING ACTIVITY 1, INCLUDED; FFA1, INCLUDED | 277700 | 28 |
| WERNICKE-KORSAKOFF SYNDROME | 277730 | 5 |
| WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR | | 9 |
| WILLIAMS-BEUREN SYNDROME; WBS | 194050 | 54 |
| WILMS TUMOR 1; WT1 | 194070 | 18 |
| WILSON DISEASE | 277900 | 31 |
| WINCHESTER SYNDROME; WNCHRS | 277950 | 1 |
| WISKOTT-ALDRICH SYNDROME; WAS | 301000 | 3 |
| WOLF-HIRSCHHORN SYNDROME; WHS | 194190 | 4 |
| WOLFRAM SYNDROME | 222300 | 11 |
| WOLMAN DISEASE | 278000 | 14 |
| WOUND HEALING DISORDER | | 2 |