Disease ID | Source | Name | Description |
245600 | OMIM | Multiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects (JDSCD) | An autosomal recessive disease characterized by dysmorphic facies, bilateral dislocations of the elbows, hips, and knees, clubfeet, and short stature, as well as cardiovascular defects. The disease is caused by variants affecting the gene represented in this entry. |