Orphanet: Familiale klompvoet als gevolg van 17q23.1q23.2 microduplicatie

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Familial clubfoot due to 17q23.1q23.2 microduplication

Disease definition

17q23.1-q23.2 microduplication is a newly described cause of familial isolated clubfoot.


Classification level: Subtype of disorder
  • Synonym(s):
    • Hereditary clubfoot due to 17q23.1-q23.2 microduplication
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant or Not applicable 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q66.8
  • OMIM: 613618
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -
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