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PMP22-RAI1 contiguous gene duplication syndrome

MONDO:0014723

Also known as: 17p11.2p12 microduplication syndrome, YUHAL, Yuan-Harel-Lupski syndrome, dup(17)(p11.2p12), trisomy 17p11.2-p12, trisomy 17p11.2p12, YUAN-Harel-Lupski syndrome

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

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Broader categories

Disease (618) Hereditary disease (172) Syndromic disease (24) Human disease (14) Chromosomal disorder (12) Disease of genetic or genomic mechanism (2) Autosomal anomaly (0) Chromosome 17 disorder (0) Disease by body system or component (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

PMP22-RAI1 contiguous gene duplication syndrome

Broader categories

10,000 genomes scoured for clues to rare brain diseases