| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Ichthyosis with Hypotrichosis Syndrome(ST14) | ichthyosis, non-scarring hypotrichosis | Autosomal Recessive | 11q24.3 | Missense | ST14 | 1315G>A | Gly439Ser | Amino Acid Substitution | Ahmad et al., 2018/ |
