Rare disease prevalence

Mount Sinai estimate puts Phelan-McDermid syndrome at about 1 in 7,300 people

Mount Sinai researchers estimate that Phelan-McDermid syndrome affects about 1 in 7,300 people, more than 45,000 of them in the US. The figure is modelled from 180,000 tested autistic people, and the authors say the missing diagnoses matter as targeted trials begin.