mosaic trisomy 12 https://www.malacards.org/card/mosaic_trisomy_12 Mosaic trisomy type 12 SCTID:764463001 Orphanet:1698 MEDGEN:1631133 Mosaic trisomy chromosome 12 GARD:0005304 MONDO:0015718 UMLS:C4706889 trisomy 12 mosaicism Mosaic trisomy 12 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, principally characterized by developmental or growth delay, short stature, craniofacial dysmorphism (e.g. turricephaly, tall forehead, downslanting palpebral fissures, posteriorly rotated and low set ears, narrow palate), congenital heart defects (e.g. atrial septal defect, patent ductus arteriosus), hypotonia, and pigmentary dysplasia. Scoliosis, hearing loss, facial/body asymmetry, and intellectual disability have also been reported. chromosome 12 disorder trisomy obsolete_mosaic trisomy 12