Source:http://linkedlifedata.com/resource/umls/id/C0795804
JABL: Deletion of the long arm of chromosome 2 with a highly variable phenotype marked mainly by low birth weight, delayed somatic and mental development, craniofacial defects (relative small facial features with eye, ear, and nose abnormalities), short neck, finger deformities, heart and lung congenital defects, and other anomalies.