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Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome

MONDO:0014757

Also known as: Takenouchi-Kosaki syndrome, TAKENOUCHI-Kosaki syndrome, TKS, macrothrombocytopenia and intellectual disability syndrome, macrothrombocytopenia and mental retardation syndrome

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) Developmental defect during embryogenesis (8) 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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