" /> Complete Trisomy 13 Syndrome - CISMeF





Preferred Label : Complete Trisomy 13 Syndrome;

NCIt synonyms : Patau Syndrome;

NCIt definition : A syndrome characterized by the presence of three complete copies of genetic material for chromosome 13, instead of the normal two. It leads to a variety of abnormalities that include mental retardation, microcephaly, low-set ears, eye structural defects, polydactyly, and limb abnormalities.;

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31/07/2025


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