Their original clinical diagnoses include five with a clinical suspicion of NFNS, three with a clinical suspicion of NS, one with a suspicion of NF1 with other features, one with a suspicion of an unspecified RASopathy, and the one patient with a pathogenic SPRED1 variant had a clinical diagnosis of NF1. The gene discussed is SPRED1; the disease is neurofibromatosis type 1.