Source:http://linkedlifedata.com/resource/umls/id/C0795855
JABL: A condition in which both ends of chromosome 15 have been lost (deletion) and the two broken ends have reunited to form a ring-shaped figure. Common clinical findings include growth retardation, triangular expressionless face, hypertelorism, slightly receding mandible, malformed ears, short neck, brachymesophalangy, hypogonadism, small hands and feet, mental retardation, and other disorders.