| ACTB |
| ACTL6B |
| ADNP |
| AHDC1 |
| ANKRD11 |
| ASH1L |
| ASXL3 |
| ATP1A3 |
| ATRX |
| AUTS2 |
| BCL11A |
| BPTF |
| BRPF1 |
| BRWD3 |
| CACNA1A |
| CAMTA1 |
| CASK |
| CDK13 |
| CHD2 |
| CHD3 |
| CHD4 |
| CHD7 |
| CHD8 |
| CLTC |
| CNOT3 |
| CNTNAP1 |
| CSNK2A1 |
| CTCF |
| CTNNB1 |
| CUL4B |
| DDX3X |
| DEAF1 |
| DYNC1H1 |
| DYRK1A |
| EBF3 |
| EEF1A2 |
| EFTUD2 |
| ERF |
| FBX011 |
| FOXG1 |
| FOXP1 |
| GATAD2B |
| GLI2 |
| GRIK2 |
| GRIN1 |
| GRIN2A |
| GRIN2B |
| HECW2 |
| HNRNPU |
| HUWE1 |
| IQSEC2 |
| ITPR1 |
| KANSL1 |
| KAT6A |
| KAT6B |
| KCNQ2 |
| KDM5B |
| KDM5C |
| KIF1A |
| KMT2A |
| KMT2C |
| KMT5B |
| LZTR1 |
| MAGEL2 |
| MECP2 |
| MED12 |
| MED13 |
| MED13L |
| MEF2C |
| MYT1L |
| NAA10 |
| NAA15 |
| NALCN |
| NEXMIF |
| NFIX |
| NRXN1 |
| NSD2 |
| OPHN1 |
| PACS1 |
| PHIP |
| PIGN |
| POGZ |
| PPP2R5D |
| PRMT7 |
| PUF60 |
| PURA |
| RAI1 |
| RERE |
| RPS6KA3 |
| SATB2 |
| SCN1A |
| SCN1B |
| SCN2A |
| SCN8A |
| SETD1A |
| SETD5 |
| SHANK2 |
| SHANK3 |
| SIN3A |
| SLC6A1 |
| SLC6A8 |
| SLC9A6 |
| SMC1A |
| SMC3 |
| SON |
| SOX5 |
| SPTAN1 |
| SRCAP |
| STXBP1 |
| SYNGAP1 |
| TAF1 |
| TBL1XR1 |
| TCF20 |
| TCF4 |
| TLK2 |
| TRAPPC9 |
| TRIO |
| TRIP12 |
| TUBA1A |
| USP9X |
| VPS13B |
| WAC |
| WDR45 |
| WDR62 |
| WDR73 |
| ZBTB20 |
| ZMYND11 |
| Helsmoortel-van der Aa syndrome |
| Xia-Gibbs syndrome |
| KBG Syndrome |
| Bainbridge-Ropers syndrome |
| Alpha-thalassemia/impaired intellectual development syndrome |
| Dias-Logan syndrome |
| Snijders Blok-Campeau syndrome |
| Sifrim-Hitz-Weiss syndrome |
| CHARGE syndrome |
| Okur-Chung neurodevelopmental syndrome |
| Vulto-van Silfout-de Vries syndrome |
| Chitayat syndrome |
| GAND syndrome |
| Culler-Jones syndrome |
| Gillespie syndrome |
| Koolen-De Vries syndrome |
| Arboleda-Tham syndrome |
| SBBYSS Syndrome |
| NESCAV syndrome |
| Wiedemann-Steiner syndrome |
| Schaaf-Yang syndrome |
| Ogden syndrome |
| Rauch-Steindl syndrome |
| Schuurs-Hoeijmakers syndrome |
| Chung-Jansen syndrome |
| White-Sutton syndrome |
| Verheij Syndrome |
| Smith-Magenis syndrome |
| Coffin-Lowry syndrome |
| Glass syndrome |
| Phelan-McDermid syndrome |
| Witteveen-Kolk syndrome |
| ZTTK syndrome |
| Lamb-Shaffer syndrome |
| Pitt-Hopkins syndrome |
| Cohen syndrome |
| Desanto-Shinawi syndrome |
| Primrose syndrome |
| CHAMP1 |
| RNU4-2 |
