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Multiple congenital anomalies due to 14q32.2 paternally expressed gene defect

MONDO:0100507

Temple syndrome is a less specific phenotype including intrauterine and postnatal growth restriction, hypotonia, feeding difficulties in infancy, truncal obesity, and small feet and hands. Temple syndrome is caused by defects or absence of paternally derived imprinting signals (including maternal UPD14).

Also known as: Temple syndrome

2 clinical trials for this condition and its sub-types.

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Broader categories

Disease (717) Human disease (15) Developmental defect during embryogenesis (8) Multiple congenital anomalies/dysmorphic syndrome (1) Disease by developmental or physiological process (0) Disorder of development or morphogenesis (0) Multiple congenital anomalies due to 14q32.2 imprinting defect (0)
Trials to join now! 1 Not yet recruiting 1
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  • 2000-Patient study aims to uncover hidden metabolic risks in rare genetic disorders

    Knowledge-focused Recruiting now

    This observational study will follow 2000 children and adults with imprinting disorders—rare genetic conditions like Silver-Russell and Prader-Willi syndromes. Researchers aim to describe the natural history of these diseases and identify common metabolic profiles, risks for obes…

    Sponsor: Institut National de la Santé Et de la Recherche Médicale, France • Aim: Knowledge-focused

    Last updated Jun 27, 2026 09:05 UTC

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