| Disease ID | Source | Name | Description |
| 250410 | OMIM | Retinitis pigmentosa with or without skeletal anomalies (RPSKA) | An autosomal recessive disease characterized by retinal degeneration, brachydactyly, short stature, craniofacial dysmorphism, and neurologic defects. Retinal defects are consistent with retinitis pigmentosa in most patients. Neurologic manifestations include mild-to-moderate intellectual disability and psychomotor retardation. The disease is caused by variants affecting the gene represented in this entry. |