6q16 microdeletion syndrome

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Synonyms: Del(6)(q16) | Monosomy 6q16 | Prader-Willi-like syndrome due to microdeletion 6q16

A rare Prader-Willi like syndrome due to an interstitial deletion located at 6q16.1q16.2 and characterized by obesity hyperphagia hypotonia small hands and feet eye/vision anomalies and global developmental delay.

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 May 2024

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6q16 microdeletion syndrome?

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