NF1 whole gene deletions of the NF1 gene are associated with a more severe clinical phenotype of NF1, including dysmorphic facial features, intellectual disability, congenital cardiac anomalies and increased numbers of cutaneous and subcutaneous neurofibromas (CNF) and plexiform neurofibromas (PNF) [14–17]. Here, NF1 is linked to congenital nephrotic syndrome, Finnish type.