NF1 and neurofibromatosis-Noonan syndrome: To diagnose, we collated the signs and symptoms of the patient into forms of HPO (the Human Phenotype Ontology) and retrieved the top 10 diseases associated with the phenotypes using the online analysis tool, Phenotype Profile Search, provided by The Monarch Initiative (https://monarchinitiative.org/), and it turned out that chromosome 17q11.2 deletion syndrome, Legius syndrome, NFNS, and NF1 are the most likely primary disorders.