| Disease ID | Source | Name | Description |
| 249420 | OMIM | Frank-Ter Haar syndrome (FTHS) | A syndrome characterized by brachycephaly, wide fontanels, prominent forehead, hypertelorism, prominent eyes, macrocornea with or without glaucoma, full cheeks, small chin, bowing of the long bones and flexion deformity of the fingers. The disease is caused by variants affecting the gene represented in this entry. |