| Disease ID | Source | Name | Description |
| 602473 | OMIM | Ethylmalonic encephalopathy (EE) | Autosomal recessive disorder characterized by neurodevelopmental delay and regression, recurrent petechiae, acrocyanosis, diarrhea, leading to death in the first decade of life. It is also associated with persistent lactic acidemia and ethylmalonic and methylsuccinic aciduria. The disease is caused by variants affecting the gene represented in this entry. |