A non-recurrent deletion on chromosome 9q22.3 comprising a region of 352 Kb, in which the PTCH1 gene is present, has been shown to cause NBCCS and developmental delay and/or intellectual disability, metopic craniosynostosis, obstructive hydrocephalus, pre- and postnatal macrosomia, and convulsions. The gene discussed is PTCH1; the disease is nevoid basal cell carcinoma syndrome.