8q12 microduplication syndrome
Synonyms: Dup(8)(q12) | Trisomy 8q12
The newly described 8q12 microduplication syndrome is associated with unusual and characteristic multi-organ clinical features which include hearing loss congenital heart defects intellectual disability hypotonia in infancy and Duane anomaly (see this term).
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 September 2023.
Newly diagnosed with
8q12 microduplication syndrome?
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