| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Syndactyly Type IX (Malik-Percin Type,BHLHA9) | Nonsyndromic digit anomaly | Autosomal Recessive | 17p13.3 | Missense | BHLHA9 | 211A>G | Asn71Asp | Amino Acid Substitution | 0/Malik et al., 2014 |
| Syndactyly Type IX (Malik-Percin Type,BHLHA9) | Nonsyndromic digit anomaly | Autosomal Recessive | 17p13.3 | Missense | BHLHA9 | 218G>C | Arg73Pro | Amino Acid Substitution | 0/Malik et al., 2014 |
| Syndactyly Type IV (Haas Type, ZRS,LMBR1) | triphalangeal thumb,polydactyly & syndactyly | Autosomal Dominant | 7q36 | Missense | ZRS, LMBR1 | 287C>A | 0/VanderMeer et al., 2012 |
