Distal 16p11.2 microdeletion syndrome

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Synonyms: Distal del(16)(p11.2) | Distal monosomy 16p11.2

Distal 16p11.2 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the short arm of chromosome 16 with a highly variable phenotype typically characterized by developmental delay mild intellectual disability and autism spectrum disorder. Macrocephaly (apparent by 2 years of age) structural brain malformations epilepsy vertebral anomalies and obesity are frequently associated.

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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Distal 16p11.2 microdeletion syndrome?

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