Data aggregation of exome sequencing from multiple laboratories allowed associating homozygous and compound heterozygote variants in KIAA1109 with a syndrome that we suggest naming Alkuraya-Kučinskas syndrome (AKS), as these clinicians first described affected individuals at the severe and mild ends of the phenotype, respectively. This evidence concerns the gene BLTP1 and Alkuraya-Kucinskas syndrome.