Of 10 diagnostic cases, nine fetuses had inherited the relevant mutations from their parents (one fetus with diagnosis of Gaucher disease, type II, GBA; three with mucopolysaccharidosis VII, GUSB; one with glycogen storage disease IV, GBE1; one with congenital myasthenic syndrome, RAPSN; one with lymphatic malformation-6, PIEZO1; one with Noonan syndrome LZTR1, and one with immunodysregulation, polyendocrinopathy, and enteropathy, FOXP3). This evidence concerns the gene FOXP3 and glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form.