KIFBP was found as a disease-causing gene associated with the neurological disorder Goldberg-Shprintzen syndrome [GOSHS (29–31)], an autosomal disease characterized by facial dysmorphism, mental retardation, and congenital heart disease [OMIM (Online Mendelian Inheritance in Man) #609460]. This evidence concerns the gene KIFBP and Shprintzen-Goldberg syndrome.