Genetically, de novo truncating mutations in ASXL1 have been shown to account for approximately 50% of<unk>  cases. A second gene associated with this condition is the Kelch-like family member 7 (KLHL7).
Bohring–Opitz syndrome
Ellis–Van Creveld syndrome
Landau–Kleffner syndrome
Smith–Lemli–Opitz syndrome
Fryns-Aftimos syndrome
Toriello–Carey syndrome
Romano–Ward syndrome
Koolen–De Vries syndrome