| Disease ID | Source | Name | Description |
| 618853 | OMIM | Anauxetic dysplasia 3 (ANXD3) | An autosomal recessive skeletal dysplasia characterized by severe short stature, brachydactyly, skin laxity, joint hypermobility and dislocations, short metacarpals, broad middle phalanges, and metaphyseal irregularities. Most patients also exhibit motor and cognitive delays. The disease may be caused by variants affecting the gene represented in this entry. |