| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Mesoaxial synostotic syndactyly with phalangeal reduction (BHLHA9) | Mesoaxial synostotic syndactyly with phalangeal reduction | Autosomal Recessive | 17p13.3 | Missense | BHLHA9 | 311T>C | Ile104Thr | Amino Acid Substitution | 0/Khan et al., 2017 |
