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GTR Home > Conditions/Phenotypes > Neurofibromatosis-Noonan syndrome

Neurofibromatosis-Noonan syndrome

Synonyms
Neurofibromatosis with Noonan phenotype
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

A variant of neurofibromatosis type 1 characterized 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

125 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (125 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

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

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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