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