The acrocallosal syndrome, Joubert syndrome, and fetal hydrolethalus are a group of autosomal recessive diseases caused by mutations in the KIF7 gene [4]. Putoux and co-workers have reported on patients with acrocallosal syndrome who had compound heterozygous mutations in the KIF7 gene [9,10]. The gene discussed is KIF7; the disease is acrocallosal syndrome.