Term Name:	combined D-2- and L-2-hydroxyglutaric aciduria
Synonyms:	combined D,L-2-hydroxyglutaric aciduria, combined D-2-hydroxyglutaric acidemia and L-2-hydroxyglutaric acidemia, combined D-2-hydroxyglutaric aciduria and L-2-hydroxyglutaric aciduria, D,L-2-HGA, D,L-2-hydroxyglutaric acidemia, D,L-2-hydroxyglutaric aciduria
Definition:	A 2-hydroxyglutaric aciduria characterized by neonatal-onset encephalopathy with severe hypotonia, intractable seizures, respiratory distress, and lack of psychomotor development resulting in early death that has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A1 gene on chromosome 22q11.21.
Ontology:	Human Disease [DOID:0111619]   ( DOID:0111619 )