Maternal uniparental disomy of chromosome 13

Orpha code: 97678OMIM code:

Definition

Maternal uniparental disomy of chromosome 13 is an uniparental disomy of maternal origin that most likely do not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier.

Disease data
Classification

Malformation syndrome

Synonyms
UPD(13)mat
UPD(13)mat
ORPHA code
97678
OMIM code
-
ICD10 code
Q99.8
ICD11 code
-

No additional description.

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