- Aarskog-Scott syndrome (FGD1 gene)
- Aicardi-Goutieres syndrome
- Bardet Biedl syndrome
- Beckwith-Wiedemann syndrome
- Brugada syndrome type 1,2,3,4
- Crigler-Najjar syndrome
- Fragile X Syndrome
- Gilbert syndrome
- Hyperferrininemia cataract syndrome
- Leigh syndrome
- Lesch-Nyhan syndrome
- Long QT syndrome
- Microdeletion syndromes
- DiGeorge, Sotos, Rubinstein-Taybi και NF1 (Νευροϊνωμάτωση τύπου Ι)
- Williams, Prader-Willi, Angelman, Miller-Dieker, Smith-Magenis και RETT
- 1q21.1-TAR; 2p16.1; 15q13.3; 16p11; 17q12
- 2p16, Langer-Giedion region 8q24, 9q22.3, WAGR syndrome 11p13, 15q24, 17q21.31
- 1p36, 3q29, Cri du Chat, Wolf-Hirschhorn region, 22q13 Phelan-McDermid
- 1q21.1- TAR, 3q29, 7q36.1, 12p11.23, 15q13, 15q24.1, 16p11, 17q12, 18q21.2, and 20p12.2