17q11 microdeletion syndrome

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17q11 microdeletion syndrome

Synonyms: Del(17)(q11) | Monosomy 17q11 | NF1 microdeletion syndrome | Neurofibromatosis type 1 microdeletion syndrome

17q11 microdeletion syndrome is a rare severe form of neurofibromatosis type 1 (NF1; see this term) characterized by mild facial dysmorphism developmental delay intellectual disability increased risk of malignancies and a large number of neurofibromas.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version March 2024

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17q11 microdeletion syndrome?

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Advocacy Organizations

Cache DNA

At Cache, we are on a mission to store the biomolecules of today in order to unlock the possibilities of tomorrow. Our vision is to create a scalable, sustainable, and standardized platform for reliable storage and access of biomolecules by combining chemistry, biology, automation, and computational tools to support patient advocacy groups worldwide and better connect samples to insights.

Clinical Trials

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