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Start free with EleplanMosaic genome-wide paternal uniparental disomy syndrome
ORPHA:329813Malformation syndrome
Also called Androgenetic/biparental mosaicism · Genome-wide paternal uniparental disomy mosaicism · Mosaic genome-wide paternal UPD
What it is
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.
Key facts
- Prevalence
- <1 / 1 000 000
- Age of onset
- Antenatal, Neonatal
- Classified as
- Malformation syndrome
Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.
ICD-10 codes
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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