| Disease ID | Source | Name | Description |
| 618363 | OMIM | Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis (SSASKS) | An autosomal recessive disorder characterized by disproportionate short stature, defective tooth enamel formation, and skeletal dysplasia with severe scoliosis in some patients. Variable features include facial dysmorphism, hearing impairment, and mildly impaired intellectual development. The disease is caused by variants affecting the gene represented in this entry. |