NF1 microdeletion syndrome

Clinical manifestations

• more severe phenotype than that observed in the majority of neurofibromatosis patients
• variable facial dysmorphism
• mental retardation
• developmental delay
• excessive number of neurofibromas

More general terms

• neurofibromatosis (von Recklinghausen's disease)
• syndrome

Database

• OMIM: https://mirror.omim.org/entry/162200