disease arises from structure disease arises from alteration in structure 17q12 (Human) syndrome caused by partial chromosomal duplication chromosome 17q12 duplication syndrome https://github.com/monarch-initiative/mondo/issues/3492 https://www.malacards.org/card/chromosome_17q12_duplication_syndrome DOID:0060433 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. SCTID:764435003 17q12 duplication Orphanet:261272 MEDGEN:482767 17q12 microduplication syndrome OMIM:614526 MONDO:0013796 GARD:0013296 recurrent duplication of 17q12 17q12 microduplication chromosome 17q12 duplication syndrome trisomy 17q12 UMLS:C3281137 dup(17)(q12) partial duplication of the long arm of chromosome 17