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3q26 microduplication syndrome

MONDO:0019878

3q26 microduplication syndrome is a rare chromosomal anomaly characterized by prenatal and postnatal growth retardation, developmental delay, intellectual impairment, dysmorphic signs and variable combination of congenital anomalies, including cardiovascular, genitourinary and skeletal anomalies and spectrum of caudal malformations.

Also known as: Cornelia de Lange-like syndrome, dup(3)(q26), dup(3q) syndrome, trisomy 3q26

2 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) Autosomal anomaly (0) Chromosome 3 disorder (0) Disease by etiologic mechanism (0) Partial duplication of chromosome 3 (0) Partial duplication of the long arm of chromosome 3 (0) Syndrome caused by partial chromosomal duplication (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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