Paternal uniparental disomy of chromosome 21

Orpha code: 96195OMIM code:

Definition

Paternal uniparental disomy of chromosome 21 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(21)pat
UPD(21)pat
ORPHA code
96195
OMIM code
-
ICD10 code
Q99.8
ICD11 code
-

No additional description.

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