Rare Diseases Symptoms Automatic Extraction

CblC/D defect combined with haemodynamically highly relevant VSD.

[homocystinuria without methylmalonic aciduria]

An infant with combined methylmalonic aciduria and homocystinuria (cblC/D defect) presented with significant VSD. She underwent successful cardiac surgery at 53 days.

Diseases presenting "homocystinuria" symptom

  • adrenomyeloneuropathy
  • cohen syndrome
  • homocystinuria without methylmalonic aciduria
  • primary hyperoxaluria type 1
  • pyruvate dehydrogenase deficiency

This symptom has already been validated