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15q11q13 microduplication syndrome

MONDO:0012081

The 15q11-q13 microduplication (dup15q11-q13) syndrome is characterized by neurobehavioral disorders, hypotonia, cognitive deficit, language delay and seizures. Prevalence is unknown.

Also known as: 15q11-q13 duplication syndrome, 15q11-q13 microduplication syndrome, 15q11q13 duplication syndrome, Dup15q, autism susceptibility 4, dup(15)(q11q13), trisomy 15q11-q13, trisomy 15q11q13

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

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Broader categories

Disease (618) Human disease (14) Chromosomal disorder (12) Disease of genetic or genomic mechanism (2) Partial duplication of the long arm of chromosome 15 (1) Disease by etiologic mechanism (0) Syndrome caused by partial chromosomal duplication (0)

Not yet finished but already full! 1 Completed 1 Terminated 2

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