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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 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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