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Partial deletion of the short arm of chromosome 19

MONDO:0016897

Also known as: partial deletion of chromosome 19p, partial deletion of the short arm of chromosome type 19, partial monosomy of chromosome 19p, partial monosomy of the short arm of chromosome 19

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

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Sub-types

19p13.12 microdeletion syndrome (0) Chromosome 19p13.13 deletion syndrome (0) Distal monosomy 19p13.3 (0)

Broader categories

Disease (618) Human disease (14) Chromosomal disorder (12) Disease of genetic or genomic mechanism (2) Autosomal anomaly (0) Chromosome 19 disorder (0) Disease by etiologic mechanism (0) Partial deletion of chromosome 19 (0) Syndrome caused by partial chromosomal deletion (0)
Not yet finished but already full! 1 Completed 1
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  • 10,000 genomes scoured for clues to rare brain diseases

    Knowledge-focused ENROLLING_BY_INVITATION

    This study will analyze DNA from 10,000 people with suspected rare genetic disorders affecting the brain. Researchers will map structural changes in chromosomes to find which genes cause disease. The goal is to improve genetic diagnosis and lay groundwork for future treatments.

    Sponsor: Karolinska Institutet • Aim: Knowledge-focused

    Last updated Jun 26, 2026 13:56 UTC

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