Noonan Syndrome-Like Disorder with Loose Anagen Hair 1 (NSLH1)

Noonan Syndrome-Like Disorder with Loose Anagen Hair 1, also known as mazzanti syndrome, is related to noonan syndrome-like disorder with loose anagen hair and heart septal defect. An important gene associated with Noonan Syndrome-Like Disorder with Loose Anagen Hair 1 is SHOC2 (SHOC2 Leucine Rich Repeat Scaffold Protein), and among its related pathways/superpathways are RAF/MAP kinase cascade and Negative regulation of FGFR3 signaling. Affiliated tissues include skin and brain, and related phenotypes are deep palmar crease and hypoplasia of the corpus callosum