trisomy 9p https://github.com/monarch-initiative/mondo/issues/3492 https://github.com/monarch-initiative/mondo/issues/4278 https://www.malacards.org/card/partial_duplication_triplication_of_the_short_arm_of_chromosome_9_syndrome https://www.malacards.org/card/trisomy_9p_syndrome partial trisomy of chromosome 9p GARD:0020866 partial duplication of chromosome 9p trisomy of the short arm of chromosome 9 icd11.foundation:1126301219 trisomy type 9p partial duplication of the short arm of chromosome 9 partial trisomy 9p MEDGEN:120539 Duplication 9p 9p duplication Orphanet:236 Duplication of the short arm of chromosome 9 partial trisomy of the short arm of chromosome 9 partial trisomy of the short arm of chromosome type 9 Orphanet:262767 MONDO:0016526 UMLS:C0265428 Trisomy 9p is a rare chromosomal anomaly syndrome, resulting from a partial or complete trisomy of the short arm of chromosome 9, with a wide phenotypic variablility, typically characterized by intellectual disability, craniofacial dysmorphism (e.g. microcephaly, large anterior fontanel, hypertelorism, strabismus, downslanting palpebral fissures, malformed, low-set, protruding ears, bulbous nose, macrostomia, down-turned corners of mouth, micrognathia), digital anomalies (brachydactyly and clinodactyly), and short stature. Less frequently patients present with cardiopathy and renal, skeletal, and central nervous system malformations. 9p trisomy chromosome 9p duplication obsolete chromosomal anomaly with cataract syndrome caused by partial chromosomal duplication of the short arm of chromosome 9