| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Alopecia,dentogingival & ID (ITGB6) | Alopecia, ID & dentogingival defects | Autosomal Recessive | 2q24.1-q31.1 | Missense | ITGB6 | 898G4A | Glu300Lys | Amino Acid Substitution | Ansar et al., 2015/2015 |
