GTR Home > Conditions/Phenotypes > Neurofibromatosis-Noonan syndrome


A variant of neurofibromatosis type 1 characterised by the combination of features of neurofibromatosis type 1, such as café-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, optic nerve glioma and multiple neurofibromas; and Noonan syndrome, with features such as short stature, typical facial features, congenital heart defects and unusual pectus deformity. [from SNOMEDCT_US]

Available tests

46 tests are in the database for this condition.

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Genes See tests for all associated and related genes

  • Also known as: NFNS, VRNF, WSS, NF1
    Summary: neurofibromin 1

Clinical features


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