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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 hidden genetic causes of rare bleeding disorder

    Knowledge-focused Completed

    This study investigates inherited thrombocytopenias, rare conditions where low platelet counts cause bleeding problems. About half of patients have an unknown genetic cause. Researchers aim to identify new disease genes and build a lab-grown bone marrow model to test how well dru…

    Sponsor: Fondazione IRCCS Policlinico San Matteo di Pavia • Aim: Knowledge-focused

    Last updated Jul 01, 2026 00:00 UTC

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