17q12 microduplication syndrome
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.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version December 2023
Newly diagnosed with
17q12 microduplication syndrome?
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Rare Chromosome Disorder Support Group – Unique
To inform, support and alleviate the isolation of anyone affected by a rare chromosome or single gene disorder and to raise public awareness.
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