Orphanet: Proximal 16p11.2 microduplication syndrome

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Proximal 16p11.2 microduplication syndrome

Disease definition

Proximal 16p11.2 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from a partial duplication of the short arm of chromosome 16 characterized by developmental delay and intellectual disability of a highly variable degree, autism spectrum, obsessive-compulsive, attention deficit hyperactivity disorder, speech articulation abnormalities, muscular hypotonia, tremor, hyper- or hyporeflexia, seizures, microcephaly, neuroimaging abnormalities, decreased body mass index and schizophrenia or bipolar disorder later on in life.


Classification level: Disorder
  • Synonym(s):
    • Proximal dup(16)(p11.2)
    • Proximal trisomy 16p11.2
  • Prevalence: -
  • Inheritance: -
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q92.3
  • OMIM: 614671
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information

General public

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