| Disease ID | Source | Name | Description |
| 617156 | OMIM | Mitochondrial DNA depletion syndrome 15, hepatocerebral type (MTDPS15) | An autosomal recessive mitochondrial disorder characterized by severe intrauterine growth restriction, neonatal-onset hypoglycemia and liver dysfunction, mitochondrial DNA depletion in liver and skeletal muscle, and abnormal mitochondrial morphology observed in skeletal muscle. Hepatic pathology includes cirrhosis, steatosis and cholestasis. Progression to liver failure and death is rapid with no evidence of neurological impairment or other organ involvement. The disease is caused by variants affecting the gene represented in this entry. |