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Miller-Dieker syndrome

Disease definition

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.

ORPHA:531

  • Synonym(s):
    • Lissencephaly due to 17p13.3 deletion
    • Monosomy 17p13.3
    • Telomeric deletion 17p
  • Prevalence: Unknown
  • Inheritance: Autosomal dominant 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q04.3
  • OMIM: 247200
  • UMLS: C0265219
  • MeSH: D054221
  • GARD: 3669
  • MedDRA: 10068361

Detailed information

Professionals

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