Maternal uniparental disomy of chromosome X

Orpha code: 261519OMIM code:

Definition

A uniparental disomy of maternal origin that does not seem to have an adverse impact on the phenotype of an individual. There is a possibility of homozygosity for a recessive disease mutation for which the mother is a carrier and specific phenotype depends on the inherited disorder.

Disease data
Classification

Malformation syndrome

Synonyms
UPD(X)mat
UPD(X)mat
ORPHA code
261519
OMIM code
-
ICD10 code
Q99.8
ICD11 code
LD45.0

No additional description.

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