Kabuki-Syndrom, dominant
| Gen | OMIM | Methodik |
| KMT2D (MLL2), KDM6A | 602113 300128 | Sequenzierung MLPA |
Coffin-Siris Syndrom, dominant
Nicolaides-Baraitser-Syndrom
| Gen | OMIM | Methodik |
| SMARCA2 | 600014 | Sequenzierung |
Lesch-Nyhan-Syndrom
| Gen | OMIM | Methodik |
| HPRT1 | 308000 | Sequenzierung |
Cornelia-de-Lange-Syndrom, dominant
| Gen | OMIM | Methodik |
| NIPBL1 NIPBL2 | 608667 | MLPA |
