Disease ID | Source | Name | Description |
617396 | OMIM | Anauxetic dysplasia 2 (ANXD2) | An autosomal recessive spondyloepimetaphyseal dysplasia characterized by severe short stature of prenatal onset, very short adult height (less than 1 meter), hypodontia, midface hypoplasia, and mild intellectual disability. The disease is caused by variants affecting the gene represented in this entry. |