| Disease ID | Source | Name | Description |
| 614195 | OMIM | Craniofacial anomalies and anterior segment dysgenesis syndrome (CAASDS) | A disorder with extremely variable expressivity. Clinical features include wide interpupillary distance, abnormal corneal endothelium, unusual pinnae, partially to completely empty sella turcica, posterior fossa cyst, anterior encephalocele, and/or hydrocephalus. The disease is caused by variants affecting the gene represented in this entry. |
| 148300 | OMIM | Keratoconus 1 (KTCN1) | Frequent corneal dystrophy with an incidence that varies from 50 to 230 per 100'000. The cornea assumes a conical shape as a result of a progressive non-inflammatory thinning of the corneal stroma. Keratoconus is most often an isolated sporadic condition with cases of autosomal dominant and autosomal recessive transmission. The disease is caused by variants affecting the gene represented in this entry. |