disease arises from structure disease arises from alteration in structure 16p13.3 (Human) syndrome caused by partial chromosomal duplication chromosome 16p13.3 duplication syndrome https://github.com/monarch-initiative/mondo/issues/3492 https://github.com/monarch-initiative/mondo/issues/4521 https://rarediseases.info.nih.gov/diseases/10755/chromosome-16p133-duplication https://www.malacards.org/card/chromosome_16p133_duplication_syndrome DOID:0060431 UMLS:C3150708 16p13.3 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from a partial duplication of the short arm of chromosome 16 and manifesting with a variable phenotype which is mostly characterized by: mild to moderate intellectual deficit and developmental delay (particularly speech), normal growth, short, proximally implanted thumbs and other hand and feet malformations (such as camptodactyly, syndactyly, club feet), mild arthrogryposis and characteristic facies (upslanting, narrow palpebral fissures, hypertelorism, mid face hypoplasia, bulbous nasal tip and low set ears). Other reported manifestations include cryptorchidism, inguinal hernia and behavioral problems. GARD:0010755 trisomy 16pter SCTID:733473000 16p13.3 duplication distal trisomy 16p chromosome 16p13.3 duplication syndrome interstitial 16p13.3 duplication OMIM:613458 MEDGEN:462058 16p13.3 microduplication syndrome Orphanet:96078 MONDO:0013273 chromosome 16p13.3 duplication dup(16)(p13.3) distal duplication 16p chromosome 16p13.3 duplication syndrome, isolated cases telomeric duplication 16p partial duplication of the short arm of chromosome 16