| Disease ID | Source | Name | Description |
| 212500 | OMIM | Cataract 46, juvenile-onset, with or without arrhythmic cardiomyopathy (CTRCT46) | A form of cataract, an opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. CTRCT46 can be associated with variable onset of a severe form of arrhythmic cardiomyopathy resulting in sudden cardiac death. The disease is caused by variants affecting the gene represented in this entry. |