GTR Home > Conditions/Phenotypes > Homocystinuria, cblD type, variant 1

Available tests

7 tests are in the database for this condition. Compare labs offering these tests.

Clinical features

  • Erythrocyte macrocytosis
  • Gait disturbance
  • Intellectual disability
  • Hypomethioninemia
  • Decreased adenosylcobalamin
  • Decreased methylmalonyl-CoA mutase activity
  • Cognitive impairment
  • Seizure
  • Nystagmus
  • Anorexia
  • Behavioral abnormality
  • Pallor
  • Muscular hypotonia
  • Lethargy
  • Global developmental delay
  • Dystonia
  • Megaloblastic anemia
  • Cerebral cortical atrophy
  • Homocystinuria
  • Hyperhomocystinemia
  • Spastic ataxia
  • Methylmalonic acidemia
  • Decreased methylcobalamin
  • Decreased methionine synthase activity
  • Reduced consciousness/confusion
  • Methylmalonic aciduria
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