For example, VPS4A has been associated with cerebellar hypoplasia, cataracts, impaired intellectual development, congenital microcephaly, dystonia, dyserythropoietic anemia, and growth retardation (CIMDAG syndrome, MIM 619273) and with recurrent urinary tract infections, which frequently indicates an underlying structural anomaly (e.g., vesicoureteral reflux or obstruction) (19). Here, VPS4A is linked to cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome.