Chromosome 17q12 duplication syndrome

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.

Also known as: 17q12 microduplication syndrome, chromosome 17q12 duplication syndrome, dup(17)(q12), trisomy 17q12, 17q12 duplication, 17q12 microduplication, recurrent duplication of 17q12

1 clinical trial for this condition and its sub-types, 1 tagged with Chromosome 17q12 duplication syndrome itself.