| Disease ID | Source | Name | Description |
| 600775 | OMIM | Craniosynostosis 4 (CRS4) | A primary abnormality of skull growth involving premature fusion of one or more cranial sutures. The growth velocity of the skull often cannot match that of the developing brain resulting in an abnormal head shape and, in some cases, increased intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability. The disease is caused by variants affecting the gene represented in this entry. |
| 617180 | OMIM | Chitayat syndrome (CHYTS) | An autosomal dominant syndrome characterized by hyperphalangism, partial syndactyly, bilateral accessory phalanx resulting in shortened index fingers, hallux valgus, brachydactyly, facial anomalies, diffuse bronchomalacia, and respiratory distress at birth and in infancy. The disease is caused by variants affecting the gene represented in this entry. |