Paternal uniparental disomy of chromosome 7

Orpha code: 96192OMIM code:

Definicja

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
Klasyfikacja

Malformation syndrome

Synonimy
UPD(7)pat
UPD(7)pat
Kod ORPHA
96192
Kod OMIM
-
Kod ICD10
Q99.8
Kod ICD11
-

No additional description.

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