Paternal uniparental disomy of chromosome 13 syndrome
ORPHA:99324· ICD-10 Q99.8
Definition
Paternal uniparental disomy of chromosome 13 is an uniparental disomy of paternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier.
- Age of onset
- Antenatal, Neonatal