Disease ID | Source | Name | Description |
304110 | OMIM | Craniofrontonasal syndrome (CFNS) | X-linked inherited syndrome characterized by hypertelorism, coronal synostosis with brachycephaly, downslanting palpebral fissures, clefting of the nasal tip, joint anomalies, longitudinally grooved fingernails and other digital anomalies. The disease is caused by variants affecting the gene represented in this entry. |