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.
MONDO:0016967
partial duplication of the long arm of chromosome 17
is_a
17q12 duplication
related
17q12 microduplication
related
17q12 microduplication syndrome
exact
chromosome 17q12 duplication syndrome
exact
dup(17)(q12)
exact
recurrent duplication of 17q12
related
trisomy 17q12
exact