Source:http://linkedlifedata.com/resource/umls/id/C0795818
JABL: An anomaly in which two ends of chromosome 7 have been lost (deletion) and the two broken ends have reunited to form a ring-shaped figure. The syndrome is rare and is characterized mainly by brain anomalies, microcephaly, midfacial dysplasia, mental deficiency, dermatological abnormalities, growth failure, cleft lip and palate, genital deformities, and other variable defects.