partial duplication of the long arm of chromosome 6 distal trisomy 6q https://github.com/monarch-initiative/mondo/issues/3492 https://www.malacards.org/card/distal_trisomy_6q GARD:0019314 distal trisomy type 6q trisomy 6qter Chromosome 6, Partial Trisomy 6q Orphanet:96098 NORD:959 MEDGEN:162773 UMLS:C0795817 MONDO:0019881 telomeric duplication 6q Distal trisomy 6q is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 6, with highly variable phenotype, typically characterized by growth and developmental delay, intellectual disability, craniofacial dysmorphism (microcephaly, flat facial profile, frontal bossing, hypertelorism, downward-slanting palpebral fissures, flat nasal bridge, anteverted nares, bow shaped mouth, micrognathia), short webbed neck and joint contractures. Cardiac, urogenital, ophthalmologic and hand and foot anomalies, as well as umbilical hernia, spasticity, and seizures, are other features that have been reported. MESH:C537810 distal duplication 6q SCTID:763275001