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Proximal chromosome 18q deletion syndrome

MONDO:0700118

Chromosome abnormality that occurs when there is a missing (deleted) copy of genetic material from the part of the long (q) arm near the center of chromosome 18.

Also known as: proximal 18q deletion, proximal 18q deletion syndrome, proximal 18q-

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

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Broader categories

Disease (618) Syndromic disease (24) Human disease (14) Chromosomal disorder (12) Disease of genetic or genomic mechanism (2) Chromosome 18 disorder (1) Autosomal anomaly (0) Chromosome 18q deletion syndrome (0) Disease by body system or component (0) Disease by etiologic mechanism (0)
Trials to join now! 1 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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