| Disease ID | Source | Name | Description |
| 614819 | OMIM | Weill-Marchesani syndrome 3 (WMS3) | A rare connective tissue disorder characterized by short stature, brachydactyly, joint stiffness, and eye abnormalities including microspherophakia, ectopia lentis, severe myopia and glaucoma. The disease is caused by variants affecting the gene represented in this entry. |
| 251750 | OMIM | Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma (MSPKA) | A rare disease characterized by smaller and more spherical lenses than normal bilaterally, an increased anteroposterior thickness of the lens, and highly myopic eyes. Lens dislocation or subluxation may occur, leading to defective accommodation. The disease is caused by variants affecting the gene represented in this entry. |
| 613086 | OMIM | Glaucoma 3, primary congenital, D (GLC3D) | An autosomal recessive form of primary congenital glaucoma (PCG). PCG is characterized by marked increase of intraocular pressure at birth or early childhood, large ocular globes (buphthalmos) and corneal edema. It results from developmental defects of the trabecular meshwork and anterior chamber angle of the eye that prevent adequate drainage of aqueous humor. The disease is caused by variants affecting the gene represented in this entry. |