Source:http://linkedlifedata.com/resource/umls/id/C1851537
JABL: A severe bone dysplasia in which osteopathia striata is associated with cranial sclerosis, dysmorphic facies, cleft palate, deafness, heart defects, and vertebral anomalies with variability of expression. Neurological findings range from normal development to psychomotor retardation and hydrocephalus.