" /> Jacobsen Syndrome - CISMeF





Preferred Label : Jacobsen Syndrome;

NCIt synonyms : 11q Terminal Deletion Disorder;

NCIt related terms : 11q partial monosomy syndrome;

NCIt definition : A very rare genetic syndrome caused by deletion of the terminal band of chromosome 11. It is characterized by the presence of growth and psychomotor retardation, broad nasal bridge, low set ears, strabismus, trigonocephaly, and thrombocytopenia.;

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31/07/2025


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