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Smith-Magenis syndrome

MONDO:0008434

Smith-Magenis syndrome (SMS) is a complex genetic disorder characterized by variable intellectual deficit, sleep disturbance, craniofacial and skeletal anomalies, psychiatric disorders, and speech and motor delay.

Also known as: 17p11.2 microdeletion syndrome, SMITH-Magenis syndrome, SMS, Smith Magenis Syndrome, Smith-Magenis syndrome, Smith-Magenis syndrome, Isolated cases, chromosome 17P11.2 deletion syndrome, chromosome 17p11.2 deletion syndrome

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) Human disease (14) Chromosomal disorder (12) Developmental defect during embryogenesis (8) Hereditary neurological disease (6)
Trials to join now! 1 Not yet recruiting 1 Not yet finished but already full! 1 Completed 2
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  • Scientists hunt for clues to rare genetic disorders

    Knowledge-focused Recruiting now

    This observational study aims to find biological markers (biomarkers) for RAI1-related disorders, including Smith-Magenis and Potocki-Lupski syndromes. Researchers will study 90 participants through clinical exams, blood tests, optional skin biopsies, and sleep studies. The goal …

    Sponsor: Baylor College of Medicine • Aim: Knowledge-focused

    Last updated Jun 27, 2026 13:00 UTC

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