| umls-concept:C0265497 | skos:definition | JABL: Presence of five X chromosomes (49,XXXXX) associated with short stature, delayed psychomotor development, characteristic facies with upslanting palpebral fissures, micromelia with radioulnar synostosis, and other abnormalities.,NCI: A rare sex chromosome abnormality in which a female child has 3 extra X chromosomes. | lld:umls |
