| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Cockayne syndrome type I, CSA (ERCC8) | Impaired neurological functions, cachectic dwarfism, microcephaly and photosensitivity | Autosomal Recessive | 5q12.1 | Substitution | ERCC8 | c.202A>T | p.Ile68Phe | Missense | Zulfiqar et al., 2024/2024 |
