mosaic trisomy 12
http://purl.obolibrary.org/obo/MONDO_0015718
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. [ Orphanet:1698 ]
Term info
- UMLS:CN073989 (MONDO:equivalentTo)
- Orphanet:1698 (MONDO:equivalentTo)
- GARD:0005304 (MONDO:equivalentTo)
- SCTID:764463001 (MONDO:equivalentTo)
gard_rare, ordo_malformation_syndrome
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.
http://purl.obolibrary.org/obo/Orphanet_1698, http://identifiers.org/snomedct/764463001, http://linkedlifedata.com/resource/umls/id/CN073989
trisomy 12 mosaicism, Mosaic trisomy type 12, Mosaic trisomy chromosome 12
MONDO:0015718