With fewer than 100 cases having been reported worldwide, the exact prevalence is unknown but is believed to be rare. It is likely to be underdiagnosed, with one large study identifying 2.7% of people with intellectual disability to have a mutation in KCNH1.
Temple–Baraitser syndrome
Catel–Manzke syndrome
Neu–Laxova syndrome
Nance–Horan syndrome
Parkes Weber syndrome
Bart–Pumphrey syndrome
Valentino's syndrome
Nicolau–Balus syndrome