Source:http://linkedlifedata.com/resource/umls/id/C0795833
JABL: Deletion of the long arm of chromosome 9. It is a rare chromosomal aberration with a variable phenotype. Common manifestations include hypotonia, growth and mental retardation, and down-slanting or oblique palpebral fissures. Additional anomalies may include arhinencephaly, malformed ears, atrial or ventricular septal defects, and lung hypoplasia.