Disease ID | Source | Name | Description |
618845 | OMIM | Vertebral, cardiac, renal, and limb defects syndrome 3 (VCRL3) | An autosomal recessive, lethal disorder characterized by severe cardiac and renal anomalies, including hypoplastic or absent left ventricle, transposition of the great arteries, absent pulmonary trunk, and hypoplastic or absent kidneys. Patients also exhibit vertebral segmentation defects and shortening of the proximal long bones or micromelia. Death occurs in early infancy. The disease is caused by variants affecting the gene represented in this entry. |