| Disease ID | Source | Name | Description |
| 618371 | OMIM | Turnpenny-Fry syndrome (TPFS) | A syndrome characterized by facial dysmorphism, intellectual disability, feeding problems, impaired growth, and a range of brain, cardiovascular, and skeletal abnormalities. Craniofacial features include frontal bossing, sparse hair, malar hypoplasia, small palpebral fissures and oral stoma, and dysplastic ears. The disease is caused by variants affecting the gene represented in this entry. |