Biallelic mutations in KIF7 (MIM# 611254) have unfrequently been reported in a clinically variable group of ciliopathies (hydrolethalus syndromes, HLS, MIM# 614120; acrocallosal syndrome, ACLS, and Joubert-12, JBTS12, MIM# 200990; Al-Gazali-Bakalinova syndrome, MIM# 607131). This evidence concerns the gene KIF7 and ciliopathy.