17q12 microduplication syndrome

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Synonyms: Dup(17)(q12) | Trisomy 17q12

17q12 microduplication syndrome is a rare chromosomal anomaly with variable phenotypic expression and reduced penetrance associated with developmental delay mild to severe intellectual disability speech delay seizures microcephaly behavioral abnormalities autism spectrum disorder eye or vision defects (such as strabismus astigmatism amblyopia cataract coloboma and microphthalmia) non-specific dysmorphic features hypotonia cardiac and renal anomalies schizophrenia.

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 July 2024

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17q12 microduplication syndrome?

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