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Chromosome 22 disorder

MONDO:0700026

Chromosomal disorder in which chromosome 22 is affected.

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

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Sub-types

Chromosome 22, monosome mosaic (0) Maternal uniparental disomy of chromosome 22 (0) Monosomy 22 (0) Mosaic trisomy 22 (0) Ring chromosome 22 (0) Trisomy 22 (0)

Broader categories

Disease (618) Human disease (14) Chromosomal disorder (12) Disease of genetic or genomic mechanism (2) Autosomal anomaly (0) Disease by etiologic mechanism (0)

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