NSML is inherited in an autosomal dominant fashion, although it can also arise due to spontaneous mutation. In the two predominant mutations of NSML ( Y279C and T468M) the mutations cause a loss of catalytic activity of the SHP2 protein (the gene product of the PTPN11 gene), which is a previously unrecognized behavior for this class of mutations. This interferes with growth factor and related signalling. While further research confirms this mechanism, additional research is needed to determine how this relates to all of the observed effects of NSML.
Noonan syndrome with multiple lentigines
Multiple hamartoma syndrome
Hemihyperplasia–multiple lipomatosis syndrome
Sabinas brittle hair syndrome
Tuber cinereum hamartoma
Acorea, microphthalmia and cataract syndrome
Pure hair-nail type ectodermal dysplasia
Lenz microphthalmia syndrome