| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| CODAS syndrome (LONP1) | Cerebral, ocular, dental, auricular, and skeletal anomalies | Autosomal Recessive | 19p13.3 | Substitution | LONP1 | c.1448G>A | p. (Arg483His) | Misense | Zafar et al.,/2025 |
