| Disease ID | Source | Name | Description |
| 243605 | OMIM | Stromme syndrome (STROMS) | An autosomal recessive congenital disorder characterized by intestinal atresia, ocular anomalies, microcephaly, and renal and cardiac abnormalities in some patients. The disease has features of a ciliopathy, and lethality in early childhood is observed in severe cases. The disease is caused by variants affecting the gene represented in this entry. |