L-2-hydroxyglutaric aciduria
L-2-hydroxyglutaric aciduria is a primarily neurological form of 2-hydroxyglutaric aciduria characterized by psychomotor retardation, cerebellar ataxia and variable macrocephaly or epilepsy.
MONDO:0016001
2-hydroxyglutaric aciduria
is_a
L-2-HGA
exact
L-2-hydroxyglutaric acidemia
exact
L-2-hydroxyglutaric aciduria
exact
L2HGA
related