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3q29 microdeletion syndrome

Disease definition

3q29 microdeletion syndrome is a recurrent subtelomeric deletion syndrome with variable clinical manifestations including intellectual deficit and dysmorphic features.

ORPHA:65286

  • Synonym(s):
    • 3q subtelomere deletion syndrome
    • 3qter deletion
    • Del(3)(q29)
    • Monosomy 3q29
    • Monosomy 3qter
  • Prevalence: Unknown
  • Inheritance: Autosomal dominant 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q93.5
  • OMIM: 609425
  • UMLS: C2674949
  • MeSH: -
  • GARD: 11974
  • MedDRA: -

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