Source:http://linkedlifedata.com/resource/umls/id/C0795865
JABL: Duplication of the short arm of chromosome 17 with delayed psychomotor development, craniofacial abnormalities (narrow downslanting palpebral fissures, microcephaly, hypertelorism, and malformed ears), digital anomalies, and other congenital defects. Expression varies with the karyotype.