| Disease ID | Source | Name | Description |
| 617107 | OMIM | Thauvin-Robinet-Faivre syndrome (TROFAS) | A rare autosomal recessive syndrome characterized by generalized overgrowth, developmental delay, learning disabilities, and variable congenital abnormalities including congenital heart defects, renal dysplasia, and skeletal defects. The disease is caused by variants affecting the gene represented in this entry. |