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 May 2026
Newly diagnosed with
17q12 microduplication syndrome?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
Advocacy Organizations
17q12 Foundation
Creating a community for those affected by 17q12 syndromes while raising awareness and encouraging research.
Rare Chromosome Disorder Support Group – Unique
Through sharing knowledge and lived experience, Unique helps families and professionals navigate the world of chromosome and gene disorders
Uganda Alliance of Patients Organization
Supporting patients to access quality, safe and patient-centered healthcare services.
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Clinical Trials
For a list of clinical trials in this disease area, please click here.