2q31.1 microdeletion syndrome

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Synonyms: Del(2)(q31.1) | Monosomy 2q31.1

2q31.1 microdeletion syndrome is a well-defined and clinically recognisable syndrome characterized by moderate to severe developmental delay short stature facial dysmorphism and variable limb defects.

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 June 2024

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2q31.1 microdeletion syndrome?

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