Paternal uniparental disomy of chromosome 5

Orpha code: 96190OMIM code:

Definition

Paternal uniparental disomy of chromosome 5 is an uniparental disomy of paternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier.

Disease data
Classification

Malformation syndrome

Synonyms
UPD(5)pat
UPD(5)pat
ORPHA code
96190
OMIM code
-
ICD10 code
Q99.8
ICD11 code
-

No additional description.

Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl