mosaic trisomy 3 https://www.malacards.org/card/mosaic_trisomy_3 UMLS:C4707012 Mosaic trisomy chromosome 3 trisomy 3 mosaicism MONDO:0015060 Mosaic trisomy type 3 Mosaic trisomy 3 is a rare chromosomal anomaly syndrome with high phenotypic variability ranging from a mild phenotype presenting joint pain and laxity, mild facial dysmorphism (e.g. long facies, prominent eyes, dysplastic ears, downturned corners of the mouth, micrognathia) and no developmental delays to more severe phenotypes including short stature, intellectual disability, severe developmental delays, additional craniofacial dysmorphic features (e.g. brachycephaly, high forehead, flat midface, short neck) and hearing impairment, as well as skeletal (e.g. pectus excavatum, scoliosis), ocular (e.g. coloboma) and cardiac abnormalities. MEDGEN:1646607 Orphanet:100071 SCTID:764627005 GARD:0005342 chromosome 3 disorder trisomy obsolete_mosaic trisomy 3