8p23.1 duplication syndrome https://github.com/monarch-initiative/mondo/issues/3492 https://github.com/monarch-initiative/mondo/issues/6311 https://rarediseases.info.nih.gov/diseases/10304/8p231-duplication-syndrome https://www.malacards.org/card/8p231_duplication_syndrome MEDGEN:1645138 trisomy 8p23.1 GARD:0010304 Orphanet:251076 DECIPHER:85 8p23.1 duplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 8, with a highly variable phenotype, principally characterized by mild to moderate developmental delay, intellectual disability, mild facial dysmorphism (incl. prominent forehead, arched eyebrows, broad nasal bridge, upturned nares, cleft lip and/or palate) and congenital cardiac anomalies (e.g., atrioventricular septal defect). Other reported features include macrocephaly, behavioral abnormalities (e.g., attention deficit disorder), seizures, hypotonia and ocular and digital anomalies (poly/syndactyly). MONDO:0016659 UMLS:C4707330 SCTID:765140006 dup(8)(p23.1p23.1) partial duplication of the short arm of chromosome 8 8p23.1 microduplication syndrome