Paternal uniparental disomy of chromosome 7

MONDO:0019922

Paternal 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).

Also known as: UPD(7)pat, paternal uniparental disomy of chromosome type 7

2 clinical trials for this condition and its sub-types.

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