| Disease ID | Source | Name | Description |
| 236792 | OMIM | L-2-hydroxyglutaric aciduria (L2HGA) | A rare autosomal recessive disorder clinically characterized by mild psychomotor delay in the first years of life, followed by progressive cerebellar ataxia, dysarthria and moderate to severe mental retardation. Diagnosis is based on the presence of an excess of L-2-hydroxyglutaric acid in urine, blood and cerebrospinal fluid. The disease is caused by variants affecting the gene represented in this entry. |