Maternal uniparental disomy of chromosome 1 syndrome
ORPHA:251009· ICD-10 Q99.8
Definition
Maternal uniparental disomy of chromosome 1 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.
- Prevalence
- Unknown
- Inheritance
- Not applicable, Unknown
- Age of onset
- Infancy, Neonatal