Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
MONDO:0015159Also known as: MCA/MR, multiple congenital anomalies-intellectual disability with or without dysmorphism, multiple congenital anomalies/dysmorphic syndrome-intellectual disability
58 clinical trials for this condition and its sub-types.
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Broader categories
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Scientists dive into rare cholesterol disorders to uncover clues
Knowledge-focused TerminatedThis study looks at rare genetic disorders where the body can't make cholesterol properly, which can cause birth defects and learning problems. Researchers collect blood, urine, and tissue samples from affected people and their families to learn more about these conditions. The g…
Sponsor: Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) • Aim: Knowledge-focused
Last updated Aug 14, 2026 00:00 UTC
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Scientists dive into cells to unravel costello Syndrome's secrets
Knowledge-focused TerminatedThis study collects small skin samples from children aged 2 to 17 with Costello syndrome or a related condition. Researchers will analyze the cells to understand how a mutation in the HRAS gene affects energy use and mitochondria. The goal is to learn more about the disease's und…
Phase: NA • Sponsor: University Hospital, Bordeaux • Aim: Knowledge-focused
Last updated Jun 27, 2026 13:05 UTC
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Scientists hunt for clues in rare genetic brain disorder
Knowledge-focused TerminatedThis study aimed to observe how MECP2 duplication syndrome progresses over time by measuring biological markers in spinal fluid and blood, and by tracking changes in development, behavior, and seizures. It enrolled 29 males aged 1 month to 65 years with a confirmed genetic diagno…
Sponsor: Ionis Pharmaceuticals, Inc. • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:05 UTC