| 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 | 10q24.1 | Substitution | ALDH18A1 | c.1867G>A | p. Asp623Asn | Missense | Zaman et al., 2023/2023 |
