| umls-concept:C1844696 | skos:definition | JABL: A syndrome involving craniofacial, oral, and osseous structures characterized by short stature, unusual facies, cleft palate, and multiple skeletal malformations. Craniofacial abnormalities are generally milder in carrier females than those in males. Psychomotor development is usually normal but some patients have been reported as mentally retarded. | lld:umls |
