| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Tooth agenesis (EDA) | Hypodontia | Autosomal Recessive | Xq12-q13.1 | Missense | EDA | 993G>C | Gln331His | Amino acid substitution | 2010/Ayub et al., 2010 |
| Tooth agenesis (EDA) | Hypodontia | Autosomal Recessive | Xq12-q13.1 | Missense | EDA | 1091T>C | Met364Thr | Amino acid substitution | 2008/Rasool et al., 2008 |
