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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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  • Massive study aims to unlock secrets of rare chromosome 18 disorders

    Knowledge-focused Recruiting now

    This study is gathering medical and educational information from up to 4,000 people with chromosome 18 abnormalities and their families. The goal is to better understand these rare conditions and provide better resources and care. Participants must be at least one year old and in…

    Sponsor: The University of Texas Health Science Center at San Antonio • Aim: Knowledge-focused

    Last updated Jun 27, 2026 08:08 UTC

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