Source:http://linkedlifedata.com/resource/umls/id/C0795829
JABL: Duplication of the long arm of chromosome 8. The most commonly associated abnormalities include low birth weight, mental deficiency, prominent forehead, flat occiput, hypertelorism, upslanting palpebral fissures, ear and nose deformities, thin upper lips, and skeletal defects. The phenotype varies in relation to the type of duplication.