" /> Townes-Brocks Syndrome - CISMeF





Preferred Label : Townes-Brocks Syndrome;

NCIt related terms : Townes Syndrome;

NCIt definition : An autosomal dominant inherited syndrome caused by mutations in the SALL1 gene. Clinical manifestations include imperforate anus, malformations in the ears and hands, hearing loss, and kidney and heart abnormalities.;

Alternative definition : NICHD: An autosomal dominant syndrome caused by mutations in the SALL1 gene, and characterized by imperforate anus, malformations in the ears and hands, hearing loss, and kidney and heart abnormalities.;

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29/07/2025


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