| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Autosomal recessive cutis laxa type 2A (ARCL2A) | Neurovegetative, developmental and progeroid elastic skin anomalies | Autosomal recessive | 12q24.31 | Delation | ATP6V0A2 | c.1977_1980del | p. Val660LeufsTer23 | Frame shift | Zaman et al., 2023/2023 |
