Paternal uniparental disomy of chromosome 7

Orpha code: 96192OMIM code:

Definition

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).

Disease data
Classification

Malformation syndrome

Synonyms
UPD(7)pat
UPD(7)pat
ORPHA code
96192
OMIM code
-
ICD10 code
Q99.8
ICD11 code
-

No additional description.

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