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Mosaic genome-wide paternal uniparental disomy

Disease definition

A rare chromosomal anomaly characterized by a combination of paternal uniparental and biparental cell lineages, leading to variable clinical presentation that predominantly includes features of Beckwith-Wiedemann syndrome and increased risk of various tumors. In addition, features of Angelman syndrome and transient neonatal diabetes might be expected.

ORPHA:329813

Classification level: Disorder
  • Synonym(s):
    • Androgenetic/biparental mosaicism
    • Genome-wide paternal uniparental disomy mosaicism
    • Mosaic genome-wide paternal UPD
  • Prevalence: <1 / 1 000 000
  • Inheritance: -
  • Age of onset: Neonatal, Antenatal
  • ICD-10: -
  • OMIM: -
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -
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