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Diseases

  • Edwards syndrome
  • Steele Richardson Olszewski syndrome, atypical
  • Osteopetrosis renal tubular acidosis
  • Pagon Bird Detter syndrome
  • Telecanthus hypertelorism pes cavus
  • Acrofacial dysostosis
  • Subcortical laminar heterotopia
  • Hyperlipoproteinemia type I
  • Hypercholesterolemia due to LDL receptor deficiency

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