| Disease ID | Source | Name | Description |
| 616108 | OMIM | Retinal dystrophy, juvenile cataracts, and short stature syndrome (RDJCSS) | A disorder characterized by retinal dystrophy resulting in progressive decrease in visual acuity and difficulties with night vision in the first decade of life, development of juvenile cataracts, facial dysmorphism, psychomotor developmental delays, learning disabilities and short stature. Ophthalmological findings include salt-and-pepper retinopathy, attenuation of the arterioles, generalized rod-cone dysfunction, mottled macula at an early age, and peripapillary sparing of the retinal pigment epithelium. The disease is caused by variants affecting the gene represented in this entry. |