mosaic trisomy 20 https://www.malacards.org/card/mosaic_trisomy_20 GARD:0018744 Mosaic trisomy 20 is a rare chromosomal anomaly syndrome with a highly variable phenotype ranging from normal (in the majority of cases) to a mild, subtle phenotype principally characterized by spinal abnormalities (i.e. stenosis, vertebral fusion, and kyphosis), hypotonia, lifelong constipation, sloped shoulders, skin pigmentation abnormalities (i.e. linear and whorled nevoid hypermelanosis) and significant learning disabilities despite normal intelligence. More severe phenotypes, with patients presenting psychomotor and speech delay, mild facial dysmorphism, cardiac (i.e. ventricular septal defect, dysplastic tricuspid mitral valve) and renal anomalies (e.g. horseshoe kidneys), have also been reported. MONDO:0015764 UMLS:C5979884 Orphanet:1724 Mosaic trisomy chromosome 20 MEDGEN:1876689 Mosaic trisomy type 20 chromosome 20 trisomy obsolete_mosaic trisomy 20