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Diseases

  • Partial lissencephaly
  • Lachiewicz Sibley syndrome
  • Trisomy 2 mosaicism
  • 2-Hydroxyglutaricaciduria, rare (NIH)
  • Meckel syndrome
  • DiGeorge syndrome
  • Bahemuka Brown syndrome
  • Keratoconjunctivitis sicca
  • Marfan-like syndrome

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