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Cornelia de Lange syndrome 1

MONDO:0007387

Any Cornelia de Lange syndrome in which the cause of the disease is a mutation in the NIPBL gene.

Also known as: Cornelia De Lange syndrome type 1, Cornelia de Lange syndrome 1, Cornelia de Lange syndrome caused by mutation in NIPBL, NIPBL Cornelia de Lange syndrome, Brachmann-De Lange syndrome, CDLS1, Cdl, Cornelia DE Lange syndrome 1

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

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Broader categories

Disease (680) Musculoskeletal system disorder (207) Hereditary disease (176) Bone disorder (51) Syndromic disease (25) Human disease (14) Developmental defect during embryogenesis (8) Cornelia de Lange syndrome (4) Skeletal system disorder (4) Congenital limb malformation (3)
Trials to join now! 1 Completed 1
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  • New exercise program aims to get adults with intellectual disability moving more

    Disease control Recruiting now

    This study tests a 16-week inclusive exercise program called PACE for adults with intellectual disability. Participants will attend fitness classes, meet with coaches, and use a web dashboard to set goals. The trial includes 376 people and will measure daily steps and moderate-to…

    Phase: NA • Sponsor: University of North Carolina, Chapel Hill • Aim: Disease control

    Last updated Jun 27, 2026 09:08 UTC

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