partial trisomy of the long arm of chromosome 20 distal trisomy 20q https://github.com/monarch-initiative/mondo/issues/3492 https://www.malacards.org/card/distal_trisomy_20q UMLS:C4706935 GARD:0019321 distal trisomy type 20q trisomy 20qter MEDGEN:1636588 Distal trisomy 20q is a rare chromosomal anomaly syndrome, resulting from the partial trisomy of the long arm of chromosome 20, with high phenotypic variability mostly characterized by neurodevelopmental delay, cardiac malformations (e.g. ventricular septal defect, coarctation of aorta) and facial dysmorphism (incl. large/high forehead, microphthalmia, upslanting palpebral fissures, epicanthus, large, long, low-set ears, anteverted nares, protruding upper lip, cleft lip/palate, micro/retrognathia, dimpled chin). Skeletal (brachydactyly, scoliosis, pectus excavatum) and cerebral anomalies have also been reported. distal duplication 20q MONDO:0019888 SCTID:764500002 telomeric duplication 20q Orphanet:96107