Source:http://linkedlifedata.com/resource/umls/id/C0795980
JABL: A syndrome, originally reported in a mother and 3 daughters, characterized by mental impairment with delayed psychomotor development, and/or psychotic disturbances, hydrocephalus with arachnoid cysts, Sprengel anomaly (congenital elevation of the scapula, and scoliosis), brachydactyly, and craniofacial abnormalities.