Source:http://linkedlifedata.com/resource/umls/id/C0796172
JABL: Dwarfism, coarse facial features, sclerotic changes of the skull, contractures of the hips and knees, hyperextensibility of stubby and tapering fingers, kyphosis, scoliosis, pectus carinatum, ossification of the metaphyses of the long bones, flat vertebral crests, and delayed growth and mental development.