| Syndrome |
Gene |
Chromosome |
Location |
Category |
| Zaki-Gleeson syndrome | EIF2AK3 | 2 | p11.2 | Autism spectrum | |
| Zaki-Gleeson syndrome | EOMES | 3 | p24.1 | Autism spectrum | |
| Zaki-Gleeson syndrome | PTF1A | 10 | p12.2 | Autism spectrum | |
| Zhu-Tokita-Takenouchi-Kim syndrome | SON | 21 | q22.11 | Autism spectrum | |
| ZIC FAMILY MEMBER 1 | ZIC1 | 3 | q24 | Autism spectrum | |
| ZINC FINGER MYND DOMAIN-CONTAINING PROTEIN 11 | ZMYND11 | 10 | p15.3 | Autism spectrum | |
| ZINC FINGER PROTEIN 407 | ZNF407 | 18 | q22.3 | Autism spectrum | |
| ZINC FINGER SWIM DOMAIN-CONTAINING PROTEIN 6 | ZSWIM6 | 5 | q12.1 | Autism spectrum | |
| Zinc Fingers syndrome | ZNF713 | 7 | p11.2 | Autism spectrum | |
| Zonular pulverulent cataract type 3 (CZP3) | GJA3 | 13 | q12.11 | Cataracts | |
| ZTTK SYNDROME | ZTTKS | 21 | q22.11 | Autism spectrum | |