Source:http://linkedlifedata.com/resource/umls/id/C0795952
JABL: Anomalies of the prosencephalic structures, atelencephaly, and microcephaly in association with congenital heart diseases, preaxial limb malformations, eye abnormalities, and genital and other deformities. The disorder is frequently lethal. Infants who survive are severely retarded. Ring chromosome 13, duplication of the long arm of chromosome 13, and this syndrome share many common clinical features. In the synonym XK syndrome, the letter "X" stands for the unreported name of the patient of Garcia and Duncan, and "K" for the initial of Lurie's patient.