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Mosaic trisomy 8

Disease definition

A rare autosomal anomaly defined by the presence of three copies of chromosome 8 in some cells of the body, and clinically characterized by facial dysmorphism, typically deep palmar and plantar creases, mild intellectual deficit and joint, urinary, cardiac and skeletal anomalies.

ORPHA:96061

Classification level: Disorder
  • Synonym(s):
    • Mosaic trisomy chromosome 8
    • Trisomy 8 mosaicism
    • Warkany syndrome
  • Prevalence: Unknown
  • Inheritance: Not applicable or Unknown 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q92.1
  • OMIM: -
  • UMLS: C1096527
  • MeSH: C537940
  • GARD: 5359
  • MedDRA: 10053916
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