partial duplication of the long arm of chromosome 4 distal trisomy 4q https://github.com/monarch-initiative/mondo/issues/3492 GARD:0019312 trisomy 4qter Distal trisomy 4q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 4, with highly variable phenotype typically characterized by psychomotor delay, intellectual disability, craniofacial dysmorphism (microcephaly, low-set, prominent ears, downslanting palpebral fissures, hypertelorism, epicanthic folds, broad, prominent nasal bridge, high arched and cleft palate, micro-/retrognathia), seizures, as well as tooth and digital anomalies (clinodactyly, polydactyly). Cardiac malformations, renal anomalies, cryptorchidism, hypotonia and hearing impairment have also been reported. Orphanet:96096 UMLS:C4706362 telomeric duplication 4q distal duplication 4q MEDGEN:1633392 distal trisomy type 4q MONDO:0019879 SCTID:763273008