Maternal uniparental disomy of chromosome 2 syndrome
ORPHA:96179· ICD-10 Q99.8
Definition
Maternal uniparental disomy of chromosome 2 is an uniparental disomy of maternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier.
- Age of onset
- Antenatal, Neonatal