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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

General

neurofibromatosis (von Recklinghausen's disease) syndrome

Database Correlations

OMIM 162200

References

  1. UniProt :accession Q6IEE7
  2. OMIM :accession 162200