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Maternal uniparental disomy of chromosome 6

rare

Maternal uniparental disomy of chromosome 6 is an uniparental disomy of maternal origin characterized by intrauterine growth retardation. Homozygosity for a recessive disease mutation for which only a mother is a carrier may lead to other phenotypes.

Identifiers
MONDO:0019912 Orphanet:96181
Part of
Chromosome 6 disorderUniparental disomy
Also known as
maternal uniparental disomy of chromosome type 6 · UPD(6)mat

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