partial duplication of the short arm of chromosome 7 distal trisomy 7p https://github.com/monarch-initiative/mondo/issues/3492 https://www.malacards.org/card/distal_trisomy_7p trisomy 7pter telomeric duplication 7p MONDO:0019874 distal duplication 7p SCTID:763276000 Orphanet:96074 Distal trisomy 7p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 7, with highly variable phenotype typically characterized by severe to profound psychomotor delay, intellectual disability, dysmorphic features (incl. dolichocephaly, microbrachycephaly, high and/or broad forehead, large anterior fontanel, hypertelorism, downslanting palpebral fissures, low-set, dysplastic ears, low, broad and prominent nasal bridge, abnormal palate, micro-/retrognathia), and hypotonia. Cardiovascular, gastrointestinal, skeletal and urogenital anomalies have commonly been reported. distal trisomy type 7p UMLS:C4706364 MEDGEN:1641655 GARD:0019307