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Partial deletion of chromosome 18

MONDO:0016880

Also known as: partial deletion of chromosome type 18, partial monosomy of chromosome 18

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

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Sub-types

Chromosome 18p deletion syndrome (0) Chromosome 18q deletion syndrome (0) Distal chromosome 18q deletion syndrome (0) Proximal chromosome 18q deletion syndrome (0)

Broader categories

Disease (618) Human disease (14) Chromosomal disorder (12) Disease of genetic or genomic mechanism (2) Chromosome 18 disorder (1) Autosomal anomaly (0) Disease by etiologic mechanism (0) Syndrome caused by partial chromosomal deletion (0)

Trials to join now! 1 Not yet finished but already full! 1 Completed 1

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