The study of 3 consanguineous and 3 nonconsanguineous families with Harboyan syndrome revealed homozygosity or compound heterozygosity, respectively, for SLC4A11 mutations in Harboyan patients, indicating that CHED2 and Harboyan syndrome are allelic disorders [20]. The gene discussed is SLC4A11; the disease is Corneal dystrophy - perceptive deafness.