distal trisomy 19q https://github.com/monarch-initiative/mondo/issues/3492 https://www.malacards.org/card/distal_trisomy_19q distal duplication 19q Orphanet:1717 trisomy 19qter UMLS:C4707664 GARD:0018743 MONDO:0015744 telomeric duplication 19q distal trisomy type 19q SCTID:766052008 Distal trisomy 19q is a rare chromosomal anomaly syndrome characterized by low birth weight, developmental delay, intellectual disability, short stature, craniofacial dysmorphism (incl. microcephaly, midface hypoplasia, hypertelorism, flat nasal bridge, ear anomalies, short philtrum, downturned corners of the mouth, micrognathia) and a short neck with redundant skin folds. Additional features may include hypotonia, skeletal anomalies (e.g. clino/camptodactyly), seizures and congenital cardiac, urogenital and gastrointestinal malformations. MEDGEN:1646863 partial duplication of the long arm of chromosome 19