| Syndrome |
Gene |
Chromosome |
Location |
Category |
| WAARDENBURG SYNDROME TYPE 2E | WS2E | 22 | q13.1 | Autism spectrum | |
| Wagner syndrome | VCAN | 5 | q14.2 | Cataracts | |
| WAGR Syndrome | BDNF | 11 | p13 | Autism spectrum | |
| WAGR Syndrome | PAX6 | 11 | p13 | Autism spectrum | |
| WAGR Syndrome | WT1 | 11 | p13 | Autism spectrum | |
| Waisman syndrome | RAB39B | 23 | q28 | Autism spectrum | |
| Waldenström macroglobulinemia | CXCR4 | 2 | q22.1 | Ataxia spectrum | |
| Waldenström macroglobulinemia | MYD88 | 3 | p22.2 | Ataxia spectrum | |
| Walker-Warburg syndrome | B3GALNT2 | 1 | q42.3 | Microphthalmia | |
| Walker-Warburg syndrome | B4GAT1 | 11 | q13.2 | Microphthalmia | |
| Walker-Warburg syndrome | DAG1 | 3 | p21.31 | Microphthalmia | |
| Walker-Warburg syndrome | FKRP | 19 | q13.32 | Microphthalmia | |
| Walker-Warburg syndrome | ISPD | 7 | p21.2 | Microphthalmia | |
| Walker-Warburg syndrome | LARGE1 | 22 | q12.3 | Microphthalmia | |
| Walker-Warburg syndrome | POMGNT1 | 1 | p34.1 | Microphthalmia | |
| Walker-Warburg syndrome | POMGNT2 | 3 | p22.1 | Microphthalmia | |
| Walker-Warburg syndrome | POMK | 8 | p11.21 | Microphthalmia | |
| Walker-Warburg syndrome | POMT1 | 9 | q34.13 | Microphthalmia | |
| Walker-Warburg syndrome | POMT2 | 14 | q24.3 | Microphthalmia | |
| Walker-Warburg syndrome | RXYLT1 | 12 | q14.2 | Microphthalmia | |
| WARBURG MICRO SYNDROME 4 | WARBM4 | 20 | p13 | Autism spectrum | |
| Warsaw breakage syndrome | DDX11 | 12 | p11 | Microcephaly | |
| Werner syndrome | WRN | 8 | p12 | Cataracts | |
| WHITE-SUTTON SYNDROME | WHSUS | 1 | q21.3 | Autism spectrum | |
| Wieacker-Wolf syndrome | ZC4H2 | 23 | q11.2 | Arthrogryposis spectrum | |
| Wiedemann-Steiner syndrome | KMT2A | 11 | q23.3 | Autism spectrum | |
| Wiedemann-Steiner syndrome | WDSTS | 11 | q23.3 | Autism spectrum | |
| Williams syndrome | CLIP2 | 7 | q11.23 | Panic phobia anxiety | |
| Williams syndrome | GTF2IRD1 | 7 | q11.23 | Panic phobia anxiety | |
| Williams syndrome | LIMK1 | 7 | q11.23 | Panic phobia anxiety | |
| Williams syndrome | NCF1 | 7 | q11.23 | Panic phobia anxiety | |
| WILLIAMS-BEUREN REGION DUPLICATION SYNDROME | BAZ1B | 7 | q11.23 | Autism spectrum | |
| WILLIAMS-BEUREN REGION DUPLICATION SYNDROME | FZD9 | 7 | q11.23 | Autism spectrum | |
| Wilson disease | ATP7B | 13 | q14.3 | Panic phobia anxiety | |
| Wilson disease | PRNP | 20 | p13 | Panic phobia anxiety | |
| Wilson Disease - copper | ATP7B | 13 | q14.3 | Copper metabolism defects | |
| Wilson Disease - copper | PRNP | 20 | p13 | Copper metabolism defects | |
| WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY MEMBER 2 | WNT2 | 7 | q31.2 | Autism spectrum | |
| Witteveen-kolk syndrome | SIN3A | 15 | q24.2 | Autism spectrum | |
| Witteveen-kolk syndrome | WITKOS | 15 | q24.2 | Autism spectrum | |
| Wolff-Parkinson-White syndrome | PRKAG2 | 7 | q36.1 | Tachycardia (>100 beats/minute) | |
| Wolf-Hirschhorn syndrome | LETM1 | 4 | p16.3 | Cleft lip / cleft palate | |
| Wolf-Hirschhorn syndrome | MSX1 | 4 | p16.2 | Cleft lip / cleft palate | |
| Wolf-Hirschhorn syndrome | WHSC1 | 4 | p16.3 | Cleft lip / cleft palate | |
| Wolfram syndrome | CISD2 | 4 | q24 | Ataxia spectrum | |
| Wolfram syndrome | WFS1 | 4 | p16.1 | Ataxia spectrum | |
| Wolfram syndrome - diabetes mellitus | CISD2 | 4 | q24 | Diabetes | |
| Wolfram syndrome - diabetes mellitus | WFS1 | 4 | p16.1 | Diabetes | |
| WOLFRAM-LIKE SYNDROME AUTOSOMAL DOMINANT | WFSL | 4 | p16.1 | Autism spectrum | |
| Woodhouse-Sakati syndrome | DCAF17 | 2 | q31.1 | Hypothyroidism | |
| Woodhouse-Sakati syndrome - diabetes mellitus | DCAF17 | 2 | q31.1 | Diabetes | |
| Woodhouse-Sakati syndrome with alopecia totalis | DCAF17 | 2 | q31.1 | Alopecia | |