" /> Potocki-Lupski Syndrome - CISMeF





Preferred Label : Potocki-Lupski Syndrome;

NCIt synonyms : 17p11.2 Duplication Syndrome; PTLS;

CISMeF acronym : PTLS;

NCIt definition : A rare genetic disorder characterized by hypotonia, failure to thrive, mental retardation, developmental disorders, congenital anomalies, and autism spectrum disorders. The majority of patients harbor a microduplication of chromosome 17p11.;

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30/07/2025


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