Chromosome 17q11.2 deletion syndrome, 1.4Mb
MONDO:0013357A rare severe form of neurofibromatosis type 1 (NF1) characterized by mild facial dysmorphism, developmental delay, intellectual disability, increased risk of malignancies, and a large number of neurofibromas.
Also known as: 17q11 microdeletion syndrome, Del(17)(q11), MMFD, NF1 microdeletion syndrome, NF1 microduplication syndrome, RNF135-related overgrowth syndrome, Van Asperen syndrome, chromosome 17q11.2 deletion syndrome
37 clinical trials for this condition and its sub-types.
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Could you help scientists unlock genetic cancer secrets?
Knowledge-focused Not yet recruitingThis study screens up to 1,000 people with personal or family histories of certain cancers to see if they qualify for ongoing genetics research at the National Cancer Institute. Participants fill out a 15-20 minute online survey about their health and family history. No treatment…
Sponsor: National Cancer Institute (NCI) • Aim: Knowledge-focused
Last updated Aug 18, 2026 04:00 UTC
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New online tool aims to help families uncover hidden cancer risks
Knowledge-focused Not yet recruitingThis study tests whether a new online program can help families understand their inherited cancer risk and encourage relatives to get low-cost genetic testing. Researchers will enroll 400 adults who carry a cancer-related gene change and their family members. The goal is to see i…
Phase: NA • Sponsor: Stanford University • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:33 UTC
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50,000 samples to unlock secrets of hereditary tumors
Knowledge-focused Not yet recruitingThis study will collect blood and tumor tissue from up to 50,000 adults with hereditary or genetic-linked cancers. Researchers will use these samples to create lab-grown tumor models, like mini-tumors, to study how these cancers work and test new treatments. The goal is to better…
Sponsor: University of California, San Francisco • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:28 UTC