17q12 microduplication syndrome
From BugSigDB
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.
- Aliases
- 17q12 duplication
- 17q12 microduplication
- 17q12 microduplication syndrome
- chromosome 17q12 duplication syndrome
- chromosome 17q12 duplication syndrome
- Dup(17)(q12)
- dup(17)(q12)
- recurrent duplication of 17q12
- Trisomy 17q12
- trisomy 17q12
