| umls-concept:C0740302 | skos:definition | JABL: Deletion of the long arm of chromosome 5 with mental retardation and multiple abnormalities, usually frontal bossing, anteverted nostrils, brachycephaly, epicanthal folds, long deep philtrum, microretrognathia, and short neck. Additional defects are variable and may include hypertelorism, blepharophimosis, ear deformities, cleft palate, and other anomalies. | lld:umls |
