| umls-concept:C0795820 | skos:definition | JABL: Duplication of the short arm of chromosome 7. Clinical manifestations vary with the size of duplication and the involvement of additional chromosomes and usually include mental retardation, dolichocephaly, micrognathia, upslanting palpebral fissures, low-set malformed ears, abnormal dermatoglyphics, and other anomalies. | lld:umls |
