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Paternal uniparental disomy of chromosome 7

Disease definition

Paternal uniparental disomy of chromosome 7 is an uniparental disomy of paternal origin that most likely do not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier (e.g., cystic fibrosis, congenital chloride diarrhea, sensorineural hearing loss).

ORPHA:96192

  • Synonym(s):
    • UPD(7)pat
  • Prevalence: <1 / 1 000 000
  • Inheritance: -
  • Age of onset: Infancy, Childhood
  • ICD-10: Q99.8
  • OMIM: -
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -
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