mosaic trisomy 2 https://www.malacards.org/card/mosaic_trisomy_2 Mosaic trisomy chromosome 2 MONDO:0015763 Mosaic trisomy 2 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, principally characterized by intrauterine growth restriction, growth and motor delay, craniofacial dysmorphism (e.g. microcephaly, hypertelorism, micro/anophthalmia, midface hypoplasia, cleft lip/palate), congenital heart and neural tube defects, as well as various skeletal (e.g. scoliosis, radioulnar hypoplasia, preaxial polydactyly) and gastrointestinal (e.g. intestinal malrotation, Hirschsprung disease) anomalies. Central nervous system malformations (including ventriculomegaly, thin corpus callosum, spina bifida) have also been reported. GARD:0005331 UMLS:C4707010 SCTID:764623009 trisomy 2 mosaicism Orphanet:1723 MEDGEN:1631294 Mosaic trisomy type 2 chromosome 2 disorder trisomy obsolete_mosaic trisomy 2