| Disease ID | Source | Name | Description |
| 211180 | OMIM | Bowen-Conradi syndrome (BWCNS) | A combination of malformations characterized in newborns by low birth weight, microcephaly, mild joint restriction, a prominent nose, micrognathia, fifth finger clinodactyly, and 'rocker-bottom' feet. The syndrome is transmitted as an autosomal recessive trait. The prognosis is poor, with all infants dying within the first few months of life. The disease is caused by variants affecting the gene represented in this entry. |