| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Trichothiodystrophy 4 Nonphotosensitive (MPLKIP) | Hair abnormalities,ID,nail dystrophy, etc | Autosomal Recessive | 7p14.1 | Splice site | MPLKIP | 339+1G > A | Frame shift mutation & PTC | 0/Shah et al., 2016 |
