Source:http://linkedlifedata.com/resource/umls/id/C0796088
JABL: A syndrome of multiple craniofacial anomalies (prominent forehead, ear anomalies, vertical groove on the tip of the nose, megalocephaly, and cowlick), possible heart defect, finger and foot abnormalities, abnormal EEG, developmental delay, and kidney agenesis originally reported in one of two brothers..