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.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024
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
Providing support and information to anyone affected by a rare chromosome or gene disorder, their families and the professionals caring for them.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Clinical Trials
For a list of clinical trials in this disease area, please click here.