| Disease ID | Source | Name | Description |
| 608940 | OMIM | Spondylometaphyseal dysplasia with cone-rod dystrophy (SMDCRD) | A disorder characterized by postnatal growth deficiency resulting in profound short stature, rhizomelia with bowing of the lower extremities, platyspondyly with anterior vertebral protrusions, progressive metaphyseal irregularity and cupping with shortened tubular bones, and early-onset progressive visual impairment associated with a pigmentary maculopathy and electroretinographic evidence of cone-rod dysfunction. The disease is caused by variants affecting the gene represented in this entry. |