16p11.2p12.2 microdeletion syndrome
Synonyms: Del(16)(p11.2p12.2) | Monosomy 16p11.2p12.2
16p11.2-p12.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version March 2024
Newly diagnosed with
16p11.2p12.2 microdeletion syndrome?
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