| Disease ID | Source | Name | Description |
| 600721 | OMIM | D-2-hydroxyglutaric aciduria 1 (D2HGA1) | A rare recessive neurometabolic disorder causing developmental delay, epilepsy, hypotonia, and dysmorphic features. Both a mild and a severe phenotype exist. The severe phenotype is homogeneous and is characterized by early infantile-onset epileptic encephalopathy and cardiomyopathy. The mild phenotype has a more variable clinical presentation. Diagnosis is based on the presence of an excess of D-2-hydroxyglutaric acid in the urine. The disease is caused by variants affecting the gene represented in this entry. |