SALL4 knockout mice were embryonic lethal, and in heterozygotes, the phenotype varied; some litters showed phenotypic changes in the heart (interventricular septum loss) and did not survive long, yet those that survived longer than 3 weeks showed no obvious phenotypes of Okihiro syndrome, such as abnormalities in the digits [90]. Here, SALL4 is linked to Okihiro syndrome.