| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Amelogenesis imperfecta (WDR72) | hypomaturation AI | Autosomal Recessive | 15q21.3 | Nonsense | WDR72 | 2728C>T | Ser783* | Premature Termination | 0/El-Sayed et al., 2011 |
| Amelogenesis Imperfecta (WDR72) | hypomaturation AI | Autosomal Recessive | 15q21.3 | Nonsense | WDR72 | 2728C>T | Trp978* | Premature Termination | 0/El-Sayed et al., 2011 |
| Amelogenesis Imperfecta (WDR72) | Amelogenesis imperfecta, hypomaturation type | Autosomal Recessive | 15q21.3 | Nonsense | WDR72 | c.2686C > T | p. (Arg896*) | Premature Termination | Ullah et al.,/2025 |
