| Disease ID | Source | Name | Description |
| 220120 | OMIM | D-glyceric aciduria (D-GA) | A rare metabolic disease characterized by chronic metabolic acidosis and a highly variable clinical phenotype. Clinical features range from an encephalopathic presentation with seizures, microcephaly, severe mental retardation and early death, to milder manifestations with only speech delay or even normal development. The disease is caused by variants affecting the gene represented in this entry. |