has material basis in germline mutation in L2HGDH L-2-hydroxyglutaric aciduria https://rarediseases.info.nih.gov/diseases/10472/l-2-hydroxyglutaric-aciduria https://www.malacards.org/card/l_2_hydroxyglutaric_aciduria L2HGA OMIM:236792 icd11.foundation:562958433 MEDGEN:341029 L-2-hydroxyglutaric aciduria is a primarily neurological form of 2-hydroxyglutaric aciduria characterized by psychomotor retardation, cerebellar ataxia and variable macrocephaly or epilepsy. L-2-hydroxyglutaric acidemia UMLS:C1855995 L-2-hydroxyglutaric aciduria Orphanet:79314 DOID:0050574 MONDO:0009370 SCTID:237961001 L-2-HGA GARD:0010472 2-hydroxyglutaric aciduria