| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Synpolydactyly 1 (SPD1, HOXD13) | syndactyly, brachydactyly,polydactyly | Autosomal Dominant | 2q31.1 | Nonsense | HOXD13 | 742C>T | Gln248* | Premature Termination | 2011/Kurban et al., 2011 |
| Synpolydactyly 1 (SPD1, HOXD13) | syndactyly, brachydactyly,polydactyly | Autosomal Dominant | 2q31.1 | Duplication | HOXD13 | 184_210dup | expansion of +9 Ala | 0/Wajid et al., 2009 | |
| Synpolydactyly 1 (SPD1, HOXD13) | syndactyly, brachydactyly,polydactyly | Autosomal Dominant | 2q31.1 | Duplication | HOXD13 | 187_207dup | expansion of +7 Ala | 0/Wajid et al., 2009 |
