| umls-concept:C0795825 | skos:definition | JABL: Duplication of the short arm of chromosome 8, either de novo or resulting from parental translocation, associated with craniofacial defects (high forehead, frontal or parietal bossing, carp mouth, full cheeks, and round face), brevicollis with redundant skin folds, mental retardation, and other abnormalities. Phenotypic expression is related to the length of the duplicated segment. | lld:umls |
