Distal chromosome 18q deletion syndrome

MONDO:0700119

Distal chromosome 18q deletion syndrome is a chromosome abnormality that occurs when there is a missing (deleted) copy of genetic material at the end of the long arm (q) of chromosome 18.

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

1 clinical trial for this condition and its sub-types, 0 tagged with Distal chromosome 18q deletion syndrome itself.

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Including sub-types (1) Tagged with Distal chromosome 18q deletion syndrome (0)

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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

Distal chromosome 18q deletion syndrome

Where it sits in the disease tree

Massive study aims to unlock secrets of rare chromosome 18 disorders