| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Ectodermal Dysplasia (Hair,Nail & Skin Pigments) | Hair, Nail and Skin pigmentations | Autosomal Recessive | 18p11.32-p11.31 | 0/Habib et al., 2015 |
