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Distal 7q11.23 microduplication syndrome

MONDO:0016832

Distal 7q11.23 microduplication syndrome is a rare chromosomal anomaly characterized by a predominantly neuropsychiatric phenotype with a few dysmorphic characteristics. Speech delay, learning difficulties, attention deficit hyperactivity disorder, bipolar disorder and aggressiveness have been reported.

Also known as: Dup7q11.23D, distal dup(7)(q11.23), distal trisomy 7q11.23

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

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Broader categories

Disease (618) Hereditary disease (172) Human disease (14) Chromosomal disorder (12) 7q11.23 microduplication syndrome (3) Disease of genetic or genomic mechanism (2) Autosomal anomaly (0) Chromosome 7 disorder (0) Disease by etiologic mechanism (0) Partial duplication of chromosome 7 (0)
Not yet finished but already full! 1 Completed 1
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  • 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

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