| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Woolly Hairs (KRT25) | Tightly curled hair with abnormal growth | Autosomal Recessive | 17q21.2 | Missense | KRT25 | 950T>C | Leu317Pro | Amino Acid Substitution | 0/Ansar M et.al.,,2015 |
