Likely pathogenic variant) had an incomplete assessment which was lacking a formal ophthalmological examination but had other suggestive features, with some suggestive of a NF1-Noonan syndrome (NS) phenotype (NFNS, OMIM# 601321); the c.1A>C (p.Met1)? This evidence concerns the gene NF1 and neurofibromatosis-Noonan syndrome.