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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

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

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Broader categories

Disease (618) Human disease (14) Developmental defect during embryogenesis (7) 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! 3 Not yet recruiting 1 Completed 2
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  • Scientists investigate hidden genetic patterns in rare childhood disorders

    Knowledge-focused Not yet recruiting

    This study aims to better understand a condition called multilocus imprinting disorder (MLID), where multiple genes are affected by abnormal chemical marks. Researchers will test a new technique to detect these marks in 96 people, including those with known imprinting disorders a…

    Phase: NA • Sponsor: Assistance Publique - Hôpitaux de Paris • Aim: Knowledge-focused

    Last updated Jun 27, 2026 12:01 UTC

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