Maternal uniparental disomy of chromosome 13 syndrome
ORPHA:97678· ICD-10 Q99.8
Definition
Maternal uniparental disomy of chromosome 13 is an uniparental disomy of maternal origin that most likely do not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier.
- Prevalence
- <1 / 1 000 000
- Age of onset
- Adult