Syndromen

• Aicardi-syndroom

• Angelman syndroom

• Bardet-Biedl syndroom

• Beals syndroom (congenitale contractural arachnodactyly)

• Cayler syndroom

• Cardio-Facio-Cutaneus syndroom (CFC-syndroom)

• CHARGE-syndroom

• Coffin Lowry syndroom

• Congenitaal perisylvian syndroom

• Costello syndroom

• Cowden syndroom

• Cri-du-chat syndroom

• Foetaal alcohol syndroom

• Fragiele-X syndroom

• Greig syndroom

• Joubert-syndroom

• Klinefelter-syndroom

• Kohlschutter-Tonz syndroom

• Lison-syndroom

• Marfan-syndroom

• Miller-Dieker syndroom

• Mowat-Wilson syndroom

• Noonan syndroom

• Pallister-Hall syndroom

• Pallister-Killian syndroom

• PCA type 2

• Pelizaeus-Merzbacher

• Pierre Robin syndroom

• Pitt Hopkins syndroom

• Rett-syndroom

• Septo-optische dysplasie

• Silver Russell syndroom

• Smith-Lemli-Opitz syndroom (SLO-syndroom)

• Smith-Magenis syndroom

• Sotos syndroom

• Usher syndroom

• Velocardiaalfaciaal syndroom (22q11 deletie)

• Williams syndroom

• Wolf-Hirschhorn syndroom

• XYY-syndroom