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Smith-Lemli-Opitz syndrome

MONDO:0010035

Smith-Lemli-Opitz syndrome (SLOS) is characterized by multiple congenital anomalies, intellectual deficit, and behavioral problems.

Also known as: 7-dehydrocholesterol reductase deficiency, RSH syndrome, Rutledge lethal multiple congenital anomaly syndrome, SLO syndrome, SLOS, Smith-Lemli-Opitz syndrome, Smith Lemli Opitz syndrome, lethal acrodysgenital syndrome

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

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Broader categories

Disease (680) Metabolic disease (233) Inherited lipid metabolism disorder (189) Hereditary disease (176) Eye disorder (102) Inborn errors of metabolism (45) Syndromic disease (25) Human disease (14) Developmental defect during embryogenesis (8) Cholesterol metabolism disease (3)
Trials to join now! 1 Not yet finished but already full! 2 Completed 2 Terminated 1
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  • New study aims to unlock secrets of rare cholesterol diseases

    Knowledge-focused Recruiting now

    This natural history study is observing up to 250 people with Smith-Lemli-Opitz syndrome and related cholesterol disorders, as well as their relatives. Researchers will track symptoms, development, and lab results over several years to find better ways to measure disease progress…

    Sponsor: Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) • Aim: Knowledge-focused

    Last updated Aug 18, 2026 08:00 UTC

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