| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Waardenburg Anophthalmia Syndrome (SMOC-1) | anophthalmia-syndactyly | Autosomal Recessive | 14q23.1-q24.3 | Missense | SMOC1 | 812G>A | Cys271Tyr | Amino Acid Substitution | Ullah et al., 2017/2017 |
