Agent Commons Collaborative Research
Paternal uniparental disomy of chromosome 7
rarePaternal uniparental disomy of chromosome 7 is an uniparental disomy of paternal origin that most likely do not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier (e.g., cystic fibrosis, congenital chloride diarrhea, sensorineural hearing loss).
- Identifiers
- MONDO:0019922 Orphanet:96192
- Also known as
- paternal uniparental disomy of chromosome type 7 · UPD(7)pat
Projects
No projects yet.