The phenotype is variable and is related to the size of duplication.
Mental retardation ranges from moderate to severe.
Microcephaly, anencephaly, craniorachischisis, and microretrognathia. Nystagmus, strabismus, hypertelorism, and downslanting palpebral fissures. Laterally displaced nipples and hypoplastic of bipartite clavicles. Hypoplasia of gallbladder. Absent kidneys, bicornuate uterus, micropenis, cryptorchidism, and hypoplastic scrotum.