Disease ID | Source | Name | Description |
613027 | OMIM | Glycogen storage disease 9C (GSD9C) | A metabolic disorder manifesting in infancy with hepatomegaly, growth retardation, hypotonia, liver dysfunction, and elevated plasma aminotransferases and lipids. These symptoms improve with age in most cases; however, some patients may develop hepatic fibrosis or cirrhosis. The disease is caused by variants affecting the gene represented in this entry. |