| Disease ID | Source | Name | Description |
| 613094 | OMIM | Microphthalmia, isolated, 4 (MCOP4) | A disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues. Ocular abnormalities like opacities of the cornea and lens, scaring of the retina and choroid, and other abnormalities may also be present. The disease is caused by variants affecting the gene represented in this entry. |
| 118100 | OMIM | Klippel-Feil syndrome 1, autosomal dominant (KFS1) | A skeletal disorder characterized by congenital fusion of cervical vertebrae. It is due to a failure in the normal segmentation of vertebrae during the early weeks of fetal development. The clinical triad consists of short neck, low posterior hairline, and limited neck movement. Deafness is a feature in some cases and may be of sensorineural, conductive, or mixed type. The disease is caused by variants affecting the gene represented in this entry. |
| 615360 | OMIM | Leber congenital amaurosis 17 (LCA17) | A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or almost absent pupillary responses, photophobia, high hyperopia and keratoconus. The disease is caused by variants affecting the gene represented in this entry. |
| 617898 | OMIM | Multiple synostoses syndrome 4 (SYNS4) | A bone disease characterized by multiple progressive joint fusions that commonly involve proximal interphalangeal, tarsal-carpal, humeroradial and cervical spine joints. Additional features can include progressive conductive deafness and facial dysmorphism. SYNS4 inheritance is autosomal dominant. The disease is caused by variants affecting the gene represented in this entry. |