| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Alopecia with mental retardation Type 3 | Alopecia & mental retardation | Autosomal Recessive | 18q11.2-q12.2 | - | - | - | - | - | Wali et al., 2007/2007 |
