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Distal Xq28 microduplication syndrome

MONDO:0017404

Distal Xq28 microduplication syndrome is a rare, hereditary, syndromic intellectual disability characterized by cognitive impairment, behavioral and psychiatric problems, recurrent infections, atopic diseases, and distinctive facial features in males. Females are clinically asymptomatic or mildly affected, presenting mild learning difficulties and facial dysmorphism.

Also known as: Xq28 Microduplication, distal dup(X)q(28), distal trisomy Xq28

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

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Broader categories

Disease (680) Nervous system disorder (231) Hereditary disease (176) Neurodevelopmental disorder (147) Intellectual disability (133) Syndromic disease (25) X-linked disease (16) Human disease (14) Chromosomal disorder (12) Developmental defect during embryogenesis (8)
Trials to join now! 2 Not yet finished but already full! 2 Completed 1
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  • Scientists dig into the mysteries of x and y chromosomes

    Knowledge-focused Completed

    This study looked at 112 people with known differences in their sex chromosomes (X and Y) to better understand how these variations affect health, especially infertility. Participants underwent physical exams, blood and urine tests, imaging, and sensory checks over about 5 days. …

    Sponsor: National Human Genome Research Institute (NHGRI) • Aim: Knowledge-focused

    Last updated Jun 27, 2026 13:07 UTC

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