| Disease ID | Source | Name | Description |
| 135700 | OMIM | Fibrosis of extraocular muscles, congenital, 1 (CFEOM1) | A congenital ocular motility disorder marked by restrictive ophthalmoplegia affecting extraocular muscles innervated by the oculomotor and/or trochlear nerves. It is clinically characterized by anchoring of the eyes in downward gaze, ptosis, and backward tilt of the head. Patients affected by congenital fibrosis of extraocular muscles type 1 show an absence of the superior division of the oculomotor nerve (cranial nerve III) and corresponding oculomotor subnuclei. The disease is caused by variants affecting the gene represented in this entry. |