Miller-Dieker syndrome

What is Miller-Dieker syndrome?

Miller-Dieker Syndrome (MDS) is a contiguous gene deletion syndrome of chromosome 17p13.3, characterised by classical lissencephaly (lissencephaly type 1) and distinct facial features. Additional congenital malformations can be part of the condition.

Other condition names

  • Lissencephaly due to 17p13.3 deletion
  • Monosomy 17p13.3
  • Telomeric deletion 17p

Inheritance type

Autosomal dominant

Age of Onset

  • Infancy
  • Neonatal
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