mosaic trisomy 7 https://rarediseases.info.nih.gov/diseases/5354/mosaic-trisomy-7 https://www.malacards.org/card/mosaic_trisomy_7 MEDGEN:419125 Mosaic trisomy 7 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, mostly characterized by blaschkolinear skin pigmentary dysplasia, body asymmetry, enamel dysplasia, and developmental and growth delay. Intellectual disability, facial dysmorphism (e.g. frontal bossing, abnormal palpebral fissures, strabismus, abnormally shaped ears, and micrognathia), and genital anomalies (e.g. undescended testes) have also been observed. It has been reported to be associated with maternal uniparental disomy of chromosome 7, resulting in a Silver-Russell syndrome phenotype. Cases with no associated malformations have also been reported. Mosaic trisomy type 7 Mosaic trisomy chromosome 7 SCTID:764630003 trisomy 7 mosaicism Orphanet:1747 GARD:0005354 MONDO:0015771 MESH:C537822 UMLS:C2931631 chromosome 7 disorder trisomy obsolete_mosaic trisomy 7