Of note, similar to a spontaneous lde mutant rat model, the phenotypes of patients with homozygous loss-of-function mutations of WWOX gene from consanguineous families include microcephaly, cerebellar ataxia associated with epileptic seizures and mental retardation, retinopathy, profound developmental delay, and premature death [2, 12, 22, 35, 48, 50, 57, 60, 61]. Here, WWOX is linked to aceruloplasminemia.