| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Ectodermal-dysplasia-syndactyly syndrome (PVRL4) | skin and its appendages affection | Autosomal Recessive | 1q23.3 | Missense | PVRL4 | 635C>G | Pro212Arg | Amino Acid Substitution | Jelani et al., 2011/2011 |
| Ectodermal-dysplasia-syndactyly syndrome (PVRL4) | skin and its appendages affection | Autosomal Recessive | 1q23.3 | Nonsense | PVRL4 | 181C>T | Asp61* | Premature Termination | Raza et al., 2015/2015 |
| Ectodermal-dysplasia-syndactyly syndrome (PVRL4) | skin and its appendages affection | Autosomal Recessive | 1q23.3 | Missense | PVRL4 | 242T>C | Leu81Pro | Amino Acid Substitution | Ahmad et al., 2018/ |
