| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Syndactyly (MEGF8) | Nonsyndromic digit anomaly | Autosomal Recessive | 19q13.2 | Substitution | MEGF8 | Cys1925Arg | Missense | M Bilal et al., 2023/2023 |
