Table 2.

Clinical Features in Probands with 16p12.2 Recurrent Deletion

FindingFrequency%
Developmental delay76/11367%
Speech delay68/9274%
Intellectual disability46/5978%
Craniofacial features50/8559%
Musculoskeletal features30/5753%
Growth restriction26/7435%
Microcephaly25/8131%
Congenital cardiac defect13/3438%
Epilepsy27/7138%
Psychiatric/behavioral disorders9/1656%
Autism31/6746%
Hearing loss12/5920%
Hypotonia24/7134%
Genital problems12/4725%
Sacral dimple or tethered cord4/2417%

Some probands had additional genetic abnormalities identified that likely contributed to their phenotypes; frequencies therefore likely represent an ascertainment bias.

From: 16p12.2 Recurrent Deletion

Cover of GeneReviews®
GeneReviews® [Internet].
Adam MP, Feldman J, Mirzaa GM, et al., editors.
Seattle (WA): University of Washington, Seattle; 1993-2025.
Copyright © 1993-2025, University of Washington, Seattle. GeneReviews is a registered trademark of the University of Washington, Seattle. All rights reserved.

GeneReviews® chapters are owned by the University of Washington. Permission is hereby granted to reproduce, distribute, and translate copies of content materials for noncommercial research purposes only, provided that (i) credit for source (http://www.genereviews.org/) and copyright (© 1993-2025 University of Washington) are included with each copy; (ii) a link to the original material is provided whenever the material is published elsewhere on the Web; and (iii) reproducers, distributors, and/or translators comply with the GeneReviews® Copyright Notice and Usage Disclaimer. No further modifications are allowed. For clarity, excerpts of GeneReviews chapters for use in lab reports and clinic notes are a permitted use.

For more information, see the GeneReviews® Copyright Notice and Usage Disclaimer.

For questions regarding permissions or whether a specified use is allowed, contact: ude.wu@tssamda.

NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health.