Miller–Dieker lissencephaly syndrome (Q2200977)

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A syndrome characterized by classical lissencephaly and distinct facial features. Visible and submicroscopic deletions of 17p13.3, including the LIS1 gene, are found in almost 100% of patients.
  • Miller-Dieker syndrome
  • MDS
  • Miller–Dieker syndrome
  • Miller-Dieker lissencephaly syndrome
  • Telomeric deletion 17p
  • Monosomy 17p13.3
  • Lissencephaly due to 17p13.3 deletion
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English
Miller–Dieker lissencephaly syndrome
A syndrome characterized by classical lissencephaly and distinct facial features. Visible and submicroscopic deletions of 17p13.3, including the LIS1 gene, are found in almost 100% of patients.
  • Miller-Dieker syndrome
  • MDS
  • Miller–Dieker syndrome
  • Miller-Dieker lissencephaly syndrome
  • Telomeric deletion 17p
  • Monosomy 17p13.3
  • Lissencephaly due to 17p13.3 deletion

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