The<unk>  is caused by different mutations all with a linkage at the achromatopsia locus 2q11 on the metal transporter gene, CNNM4. Sequence analysis of this gene within<unk>  sufferers has identified homozygosity or compound heterozygosity for several different mutations in the CNNM4 gene.
Jalili syndrome
Helsmoortel-Van der Aa syndrome
May–Thurner syndrome
Van Den Bosch syndrome
Rud syndrome
Keutel syndrome
Bruck syndrome
Jeavons syndrome