Mend Syndrome (MEND)

Mend Syndrome, also known as male ebp disorder with neurological defects, is related to x-linked chondrodysplasia punctata 2 and chondrodysplasia punctata 2, x-linked dominant. An important gene associated with Mend Syndrome is EBP (EBP Cholestenol Delta-Isomerase), and among its related pathways/superpathways are Metabolism and Regulation of retinoblastoma protein. Affiliated tissues include skin and heart, and related phenotypes are elevated 8-dehydrocholesterol and elevated 8(9)-cholestenol