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Maternal uniparental disomy of chromosome 13

MONDO:0019994

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.

Also known as: UPD(13)mat, maternal uniparental disomy of chromosome type 13

2 clinical trials for this condition and its sub-types.

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Broader categories

Disease (618) Human disease (14) Chromosomal disorder (12) Disease of genetic or genomic mechanism (2) Autosomal anomaly (0) Chromosome 13 disorder (0) Disease by etiologic mechanism (0) Uniparental disomy (0)
Not yet finished but already full! 1 Completed 1
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  • Could a simple questionnaire unlock the secrets of Kids' eating disorders?

    Knowledge-focused Completed

    This study tested a new parent questionnaire called ORALQUEST to assess feeding and eating disorders in children aged 9 months to 6 years. Researchers included 338 children with chronic conditions like heart defects or autism, as well as those with picky eating. The goal was to s…

    Sponsor: Assistance Publique - Hôpitaux de Paris • Aim: Knowledge-focused

    Last updated Jun 27, 2026 08:04 UTC

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