| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Split Hand/Foot Malformation (ZAK) | split hands & feet | Autosomal Recessive | 2q31 | Missense | ZAK | 1103T>G | Phe368Cys | Amino Acid Substitution | 0/Spielmann et al., 2016 |
