partial duplication of the long arm of chromosome 2 distal trisomy 2q https://github.com/monarch-initiative/mondo/issues/3492 https://www.malacards.org/card/distal_trisomy_2q distal duplication 2q MEDGEN:1634043 SCTID:763272003 GARD:0019310 distal trisomy type 2q trisomy 2qter Orphanet:96094 UMLS:C4706361 Distal trisomy 2q is a rare chromosomal anomaly, resulting from the partial duplication of the long arm of chromosome 2, characterized by moderate psychomotor delay, mild intellectual disability, facial dysmorphism (high hairline, prominent forehead, hypertelorism, upslanting palpebral fissures, large, low-set and/or posteriorly rotated ears, depressed/broad nasal bridge, prominent nasal tip, thin upper lip vermillion), clino-/camptodactyly and normal or increased body measurements. On occasion genital anomalies (hypospadias, cryptorchidism, shawl scrotum) and short stature may be observed. MONDO:0019877 telomeric duplication 2q