| Disease ID | Source | Name | Description |
| 617044 | OMIM | Short stature, developmental delay, and congenital heart defects (SDDHD) | An autosomal recessive syndrome characterized by short stature, developmental delay, intellectual disability and congenital heart defects including ventricular septal defect, atrial septal defect and patent foramen ovale. Cataract and uveitis are observed in some patients. The disease is caused by variants affecting the gene represented in this entry. |