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Microcephaly 13, primary, autosomal recessive

MONDO:0014473

Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CENPE gene.

Also known as: CENPE autosomal recessive primary microcephaly, autosomal recessive primary microcephaly caused by mutation in CENPE, microcephaly 13, primary, autosomal recessive, MCPH13

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

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Broader categories

Disease (618) Nervous system disorder (217) Musculoskeletal system disorder (196) Hereditary disease (172) Neurodevelopmental disorder (125) Bone disorder (47) Syndromic disease (24) Human disease (14) Hereditary neurological disease (5) Autosomal recessive disease (4)
Trials to join now! 29 Not yet recruiting 11 Not yet finished but already full! 6 Completed 11 Terminated 1
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  • Scientists gather leftover surgical tissue to unlock secrets of bone disease

    Knowledge-focused Terminated

    This study collected bone, cartilage, skin, and fat tissue from 50 patients undergoing surgery at Children's National Medical Center. The goal was to grow cells from these tissues in the lab and analyze them to better understand bone and connective tissue diseases. The study was …

    Sponsor: National Institute of Dental and Craniofacial Research (NIDCR) • Aim: Knowledge-focused

    Last updated Jun 27, 2026 07:52 UTC

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