disease arises from structure disease arises from alteration in structure 16p11.2-p12.2 (Human) syndrome caused by partial chromosomal duplication 16p11.2p12.2 microduplication syndrome https://github.com/monarch-initiative/mondo/issues/3492 https://github.com/monarch-initiative/mondo/issues/6311 https://www.malacards.org/card/16p112p122_microduplication_syndrome 16p11.2p12.2 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the short arm of chromosome 16 with a highly variable phenotype typically characterized by developmental/psychomotor delay (particularly of speech), intellectual disability, autism spectrum disorder and/or obsessive and repetitive behavior, behavioral problems (such as aggression and outbursts), dysmorphic facial features (triangular face, deep set eyes, broad and prominent nasal bridge, upslanting or narrow palpebral features, hypertelorism). Additionally, finger/hand anomalies, short stature, microcephaly and slender build are frequently described. trisomy 16p11.2p12.2 GARD:0020772 16p11.2-p12.2 microduplication syndrome MEDGEN:1377902 UMLS:C4518821 MONDO:0016834 SCTID:733518000 DECIPHER:96 16p11.2 microduplication syndrome dup(16)(p11.2p12.2) Orphanet:261204 DECIPHER:78 partial duplication of the short arm of chromosome 16