Orphanet: 17q12 microduplication syndrome

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17q12 microduplication syndrome

Disease definition

17q12 microduplication syndrome is a rare chromosomal anomaly with variable phenotypic expression and reduced penetrance associated with developmental delay, mild to severe intellectual disability, speech delay, seizures, microcephaly, behavioral abnormalities, autism spectrum disorder, eye or vision defects (such as strabismus, astigmatism, amblyopia, cataract, coloboma, and microphthalmia), non-specific dysmorphic features, hypotonia, cardiac and renal anomalies, schizophrenia.


Classification level: Disorder
  • Synonym(s):
    • Dup(17)(q12)
    • Trisomy 17q12
  • Prevalence: <1 / 1 000 000
  • Inheritance: -
  • Age of onset: -
  • ICD-10: Q92.3
  • OMIM: 614526
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information

Article for general public


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