GTR Home > Conditions/Phenotypes > D-2(OH) glutaric aciduria

Clinical features

  • Apnea
  • Muscle weakness
  • Subependymal cysts
  • Multifocal cerebral white matter abnormalities
  • Prominent forehead
  • Episodic vomiting
  • Intellectual disability
  • Infantile encephalopathy
  • Dilation of lateral ventricles
  • Glutaric aciduria
  • Micrognathia
  • Seizure
  • Macrocephaly
  • Muscular hypotonia
  • Global developmental delay
  • Cardiomyopathy
  • Aortic regurgitation
  • Frontal bossing
  • Delayed CNS myelination
  • Inspiratory stridor
  • D-2-hydroxyglutaric aciduria
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