NF1 and Noonan syndrome: NF1 association with Noonan syndrome (PTPN11) [119,120], Huntington’s disease (HTT) [121], congenital myopathy (RYR1) [122], hereditary breast cancer (BRCA1) [123], multiple endocrine neoplasia type 2 (RET) [124], and Jalili syndrome (association between conical rod-dystrophy and amelogenesis imperfecta) are all described [125].