| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Ichthyosis Congenital (PNPLA1) | dry,dark brown,abnormal sweat&hyperthermia | Autosomal Recessive | 6p22.3-p21.2 | Missense | PNPLA1 | 102C>A | Asp34Glu | Amino Acid Substitution | 0/Farooq et al., 2016 |
| Ichthyosis Congenital (PNPLA1) | Ichthyosis phenotypes | Autosomal Recessive | 6p21.31 | Substitution | PNPLA1 | c.892C>T | p.Arg298* | Nonsense | Ahmad et al., 2021/2021 |
