partial duplication of the short arm of chromosome 3 distal trisomy 3p https://github.com/monarch-initiative/mondo/issues/3492 https://www.malacards.org/card/distal_trisomy_3p distal trisomy type 3p MEDGEN:1637379 Distal trisomy 3p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 3, with highly variable phenotype principally characterized by craniofacial dysmorphism (incl. brachy-/microcephaly, square facies, frontal bossing, bitemporal indentation, hypertelorism/telecanthus, low-set and/or dysmorphic ears, short nose with broad, flat nasal bridge, prominent cheeks and philtrum, downturned corners of mouth, micrognathia/retrognathia, short neck) associated with psychomotor delay, moderate to severe intellectual disability, cardiac (e.g. patent ductus arteriosus) and urogenital (e.g. renal hypoplasia, hypogenitalism) abnormalities, as well as seizures and presence of whorls on fingers. telomeric duplication 3p Orphanet:96071 SCTID:764519007 UMLS:C4706938 trisomy 3pter distal duplication 3p GARD:0019305 MONDO:0019872