Table 2: Families with compound-heterozygote mutations in the CNNM4 gene
| Origin | Consanguinity | Mutation 1 | Mutation 2 |
| Kosovo | no | c.1312dupC; p.Leu438Profs*9 | c.694_722del; p.Ile232Profs*80 |
| Guatemala | no | c.2149C > T; p.Gln717* | c.62_145del; p.Leu21Hisfs*185 |
| Scotland | no | c.971T > C; p.Leu324Pro | c.1690C > T; p.Gln564* |