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Jacobsen syndrome

MONDO:0007838

A multiple congenital anomaly/intellectual disability contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11.

Also known as: 11q terminal deletion disorder, Del(11)(q23.3), Del(11)(qter), Jacobsen syndrome, Jacobsen syndrome, Isolated cases, distal deletion 11q, distal monosomy 11q, monosomy 11qter

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

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Broader categories

Disease (680) Hereditary disease (176) Hematologic disorder (170) Thrombocytopenia (70) Syndromic disease (25) Blood platelet disease (17) Human disease (14) Chromosomal disorder (12) Disease of genetic or genomic mechanism (2) Inherited thrombocytopenia (2)
Trials to join now! 1 Completed 1
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  • Scientists hunt for clues to fatigue in Low-Platelet patients

    Knowledge-focused Recruiting now

    This study looks for substances in the blood that might be linked to fatigue in people with low platelet counts (thrombocytopenia). Researchers think a protein called BDNF, which is stored in platelets, could play a role. They will measure BDNF levels in 280 patients and healthy …

    Phase: NA • Sponsor: Assistance Publique - Hôpitaux de Paris • Aim: Knowledge-focused

    Last updated Jun 27, 2026 09:01 UTC

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