disease arises from structure disease arises from alteration in structure 1p36 (Human) partial duplication of the short arm of chromosome 1 distal trisomy 1p36 https://github.com/monarch-initiative/mondo/issues/3492 https://www.malacards.org/card/distal_trisomy_1p36 trisomy 1pter distal trisomy type 1p36 telomeric duplication 1p36 GARD:0019303 Orphanet:96069 MEDGEN:1646544 SCTID:766053003 MONDO:0019870 distal duplication 1p36 UMLS:C4707665 Distal trisomy 1p36 is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 1, characterized by borderline to mild intellectual disability, mild developmental delay, metopic craniosynostosis and mild craniofacial dysmorphism (incl. slopping forehead, bitemporal narrowing, blepharophimosis). Other associated abnormalities may include growth retardation, microcephaly, large hands, syndactyly, supernumerary ribs, rectal stenosis and/or anterior displacement of anus. Congenital heart malformations (e.g. atrial septal defect, patent ductus arteriosus) have also been reported.