Source:http://linkedlifedata.com/resource/umls/id/C0795828
JABL: Deletion of the long arm of chromosome 8 with craniofacial abnormalities (microcephaly, midfacial hypoplasia, and prominent forehead), psychomotor retardation, and various eye, nose, ear, heart, and skeletal abnormalities. The phenotype and severity of symptoms vary with the type of deletion. Interstitial deletions 8q may be associated with several syndromes, including the tricho-rhino-phalangeal syndromes I and II (Langer-Giedion syndrome).