Goldberg-Shprintzen Syndrome (GOSHS)

Goldberg-Shprintzen Syndrome, also known as goldberg-shprintzen megacolon syndrome, is related to mowat-wilson syndrome and hirschsprung disease 1. An important gene associated with Goldberg-Shprintzen Syndrome is KIFBP (Kinesin Family Binding Protein), and among its related pathways/superpathways are Signal Transduction and Vesicle-mediated transport. Affiliated tissues include eye and colon, and related phenotypes are intellectual disability and microcephaly