| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Short-Rib Thoracic Dysplasia 1,Polydact (SRTD1) | skeletal,renal,hepatic,pancreatic,retinal problem | Autosomal Recessive | 15q13 | - | - | - | - | - | Morgan et al., 2003/2003 |
