Mutations in NAD(P) steroid dependent dehydrogenase-like (NSDHL) gene are associated with the X-linked dominant disorder CHILD syndrome (OMIM #308050; [51]) and the X-linked recessive disorder CK syndrome (OMIM #300831; [52]), and mutations in mevalonate kinase (MVK) with the autosomal recessive disorder Mevalonic Aciduria (OMIM #610377; [53]). The gene discussed is MVK; the disease is mevalonic aciduria.