Rare Diseases Symptoms Automatic Extraction

Cobalamin C disease presenting with hemophagocytic lymphohistiocytosis.

[homocystinuria without methylmalonic aciduria]

Cobalamin C disease is a rare genetic condition resulting in methylmalonic aciduria, homocystinuria, and hematologic abnormalities. Clinical characteristics include ophthalmologic findings and neurological abnormalities, such as microcephaly, seizure, and mental retardation. The authors report on a 4-month-old patient initially diagnosed with hemophagocytic lymphohistiocytosis (HLH), who was later diagnosed with cobalamin C disease.

Diseases presenting "rare genetic condition" symptom

  • congenital toxoplasmosis
  • cowden syndrome
  • epidermolysis bullosa simplex
  • homocystinuria without methylmalonic aciduria
  • kabuki syndrome
  • oculocutaneous albinism
  • phenylketonuria
  • wolf-hirschhorn syndrome

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