| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Retinitis Pigmentosa Syndromic (PCDHB5) | RP, Hearing loss, Speech defects, color vision problems, photophobia | Autosomal Recessive | 5q31.3 | Splice site | PCDHB5 | c.877–2A>G | - | Splice site | Asghar et al., 2025/2025 |
