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14q11.2 microduplication syndrome

Disease definition

14q11.2 microduplication syndrome is a rare chromosomal anomaly characterized by developmental delay, mild to severe intellectual disability with speech impairment and epilepsy. Additionally, it may include dysmorphic features (such as hypo- or hypertelorism, dysplastic ears, short palpebral fissures), microcephaly or macrocephaly, behavioral abnormalities, stereotyped hand movements, ataxia, hypotonia, cleft palate.


Classification level: Disorder
  • Synonym(s):
    • Dup(14)(q11.2)
    • Trisomy 14q11.2
  • Prevalence: <1 / 1 000 000
  • Inheritance: -
  • Age of onset: Neonatal, Infancy
  • ICD-10: Q92.3
  • ICD-11: LD41.D
  • OMIM: -
  • UMLS: C4749855
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information


ERN produced/endorsed by ERN(s)   FSMR produced/endorsed by FSMR(s)
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